Undiagnosed condition

[gremily]

Thought I'd post about DD2, maybe there are ppl out there with similar situations.

No probs during preg, all ultrasounds normal.
8 hr labour, episiotomy, vacuum extraction.
3155g, 48cm long, 36cm head (percentile chart - weight and length just under 50%, head 97%).

Midwife called pediatrician to come check her. While I was still laying on birth bed, just been stitched up, he says "She's very interesting looking, isn't she?" Bombarded with questions whether she looks like any of us, again how she's interesting looking, etc. Good Dr, terrible PR. He referred us to a geneticist - he and his team were really lovely ppl, thank goodness!
Begin the tests! Head ultrasound, kidney ultrasound, full body xrays (had to do that twice as they left her hands and feet out - not exactly full body xray with out the hands and feet!), chromosonal test, kariotype test. The last test we did was a urine, to check her metabolisom.
All came back normal.

The bridge of her nose is flat with her eyes slightly further apart. When she was born both of her ears were curled over at the top (1 is normal now, while the other is still slightly curled over). She had frontal bossing, and her sutures (bones of head) were extremely close together.

We haven't seen the pediatrician or geneticist since she was 3 mths.

At 12 mth check with GP she referred us to another pediatrician. Saw her a couple of weeks ago.
DD1's height is now in the 10%, weight just above the 10%, and her head is in the 75%.
Pediatrician asked all sorts of questions, watched her crawl around, pick up little things, etc. Gross motor skills at a 12 mth old level, while fine motor at a 10 mth old level.
We are going to have blood tests done to check her pituitary gland (responsible for growth). They'll put the numbing patch on her arm for 40 mins, then I guess we just have to hold her down while they take the blood they need - have no idea how much.
We also have another appointment with the geneticist next week. Hopefully he might have some answers, we'll see.

The first few months of her life my feelings were up and down, all over the place. Didn't really show them on the outside, but while alone I'd have a cry, let it all out, then get back to what I was doing. DF pretty supportive, tends to look at the bigger picture so to speak, rather than dwell on the negative. I try to do that, but sometimes I've just got to let go!
The past few mths I've been quite fine, it's just the wondering what is it that's 'wrong' with her that's killing me.

We've had quite an eventful 12 mths, had our ups and downs, but she's still our beautiful little girl. DD1 adores her, was there at the birth (with my parents aswell), has changed nappies (cloth!), dressed her, fed her, and is usually the first person get her for cuddles from her day sleeps on the weekend. Developmentally, they are like chalk and cheese. We had it pretty easy with DD1 - walking at 9 1/2 mths, would eat copious amounts of food, above average with reading, maths and sports, and a pretty good kid to boot!

There's not much we can do atm, just wait and see what they decide the outcome is. It would just be nice to know, if there's medication she'll need, what the future will hold for her, is she going to be okay?

Has anyone else been in a similar situation, not knowing what it is that's 'wrong' with your child?:confused:

[TigerBlueBear]

My son has neurofibromatosis type one (NF1) and was not diagnosed until he was 18 mths old.

This condition cannot be picked up antenatally unless there is a strong family incidence of it. In Blue's case his was a new mutation.

I noticed at birth that he had a couple of extremely pale birthmarks but noone commented on them so I thought nothing of it. As he got older they got slightly darker and more numerous.

Also like your daughter he has a very flat nose bridge and for a while when he was a baby I wondered if he had undiagnosed Downs Syndrome but he had no other signs of it.

Developmentally he was in the normal brackets, he crawled at 9mths and walked at 13mths but this was quite a bit behind his siblings who crawled at 6.5 & 7mths and walked at 9.75 & 10.5mths. His fine motor skills were delayed but his gross motor did not seem to be at that stage. His language skills were also a lot behind. At 12 months he was making a few works and the doctors told me he was in the normal range - my older one had heaps of words by 12 mths.

Finally we got the "likely" diagnosis at 18mths and the other symptoms he has developed since have confirmed NF1 without a shadow of a doubt.

He is quite a bright little boy but still has to have speech therapy for his speech delays - he is now 7. He reads at a level that is a little above his age group but he has low muscle tone so he has a lot of difficulty with writing and fine motor skills. His early gross motor skills were fine but as these became more complex as he got older his muscle tone and coordination issues became more apparent - he can barely hop, he is terrible at catching balls and he has two left feet when it comes to dancing or anything like that. He is forever tripping over. Mentally he is not really impaired but he does have ADHD and problems with his memory, both of which are normal symptoms with NF1. He has also developed other symptoms of NF1 as he has got older, he now has anxillery freckling around his neck and in his groin which started to develop when he was about 3, he also has started to develop some of the neurofibromas which are benign growths on the nerve tissue under the skin. None of them are terribly obvious at the moment, although my husband is a little worried about a string of them that are growing in his neck.

The small stature and big head are two symptoms that are associated with NF1. Blue has a slightly larger head but not outside the normal range but he "missed out" on the short aspect of NF1 and is actually above the 97th percentile for height.

It was probably not so hard for me as it is for you as noone ever suggested there was anything wrong with Blue until my husband came suspicious (he has medical training) and we got a referral to take Blue to the pediatrician. The concerns over Downs were really only fleeting and I thought that would have been picked up if he did have it. Once we were told what it was I just read a lot and then got on with it. I have a friend whose daughter goes to (special) gym with Blue and she has no idea what causes her daughters problems. Her daughter is 6 and they have gone through every diagnosis they can think of, they are currently exploring Weavers syndrome. She says it is very frustrating but all she can do is deal with her daughters symptoms and hope "whatever" it is does not bring more surprises as her daughter gets older.

At least I do know what to expect from Blue's NF1 as he gets older, although sometimes I wish I didn't as some of it is not nice but whats worse is that this is a variable condition and it is just as likely he won't get some of the things so we have to wait and see.

I hope this is not what your daughter has, but that said if it is there are worse things she could have.

[mummyof5]

Hi gremily
Yes, have been there, am still there!!
When DS 2 was born, he was smack on 50th centile for everything, though was somewhat smaller than our elder 3 at birth. In fact when he arrived, we picked him up and even the m/w (who had delivered our previous child) said "where is the rest of him?"
He seemed a normal enough little boy for the first couple of weeks, but by week 3 he had his first lot of antibiotics, for a staph infection in his skin, and while he was on those anitbiotics, he came down with his first chest infection. By the 4th one, I got sick of hearing the dr's tell me that you can't compare children, even though my 3 eldest had been pretty much identical to each other with their health and milestones. Needless to say at 4.5 months after having a febrile convulsion in the dr's surgery, he went to hospital with pneumonia (sp?). That trip was worth it, as I met our peads, who was a great support. He started treating DS at 7 months and first thing we did was to treat his asthma, and try to fatten him up as he was getting further behind on the centile charts, and at 7 months was wearing a 00, which was still big on him. Lots of visits with endicronoligists (sp?), dieticians, sweat tests, blood tests, etc, etc and they all come back in the normal range, or just slightly elevated or low, but not enough for a diagnosis of anything. After some months of this, it was also becoming quite apparent that he had a global developmental delay, as he didn't roll over until he was almost 8 months, babble until 8 months, crawl till almost 12 months, and did very little to interact with others, and not keen to make eye contact, though was affectionate and would cuddle etc.
To cut a very long story short, at 16 months old we took him to see the gastroenterologist who looked at him and his growth pattern and tod us we needed to see the genetesists and probably the metabolic's unit. This was particularly stressful as at the time I was 11 weeks pregnant with no.5.
We dutifully saw the genetisist who x-rayed, poked, took blood, presented him to his collegues, you know what I mean, as it sounds like you have been there...then told us they couldn't work out was wrong, but they figured it was probably metabolic, so sent us there!! Again he was tested over and over for some really obscure enzyme problem, but still no luck there either. In fact just before we moved back to NSW from Vic, they wrote and told us that they still didn't haven't have a clue, but if we ever got any more test done, maybe we should check his very long chain fatty acids or somesuch...um, ok, sure.
Needless to say, we left the whole testing thing for a while, though he still did early interevention, and DD3 (the baby) went along by default.
When DS was 2 years 9 months and still non verbal, he had grommets inserted, and started talking within a month or so. Pretty amazing, especially as it made some of his other strange habits more apparent. He has echolalia, which is when you say something and he repeats either all or part of what you say over and over again. Also has palalaia (sp?) which is when he repeats his own sayings over and over - can get rather annoying I tell you...:rolleyes:
By now it was becoming apparent that DD was also delayed, though not as much as DS. She didn't walk until 17 months (DS was 25 months, but other children were 12 - 13 months) and now at 20 months is still non verbal, though much more expressive than DS was at this age. We had DS assessed by Child development unit at Westmead children's and they suggested he get tested for Fragile X syndrome, as they though he was too sociable and friendly for autism, though similar symptems.
I looked up Fragile X on the net, that day when I got home, and it was like turning on a light. Very much describes our boy, and also explains why his sister would have some but not all of the symptems. That was just before we moved to the hunter valley, so we had to wait until we found a peads up here and got sorted, but we had the tests done in June, only to have them come back with a result of test not working and would have to be done again. Not what I wanted to hear, especially as they cost $100 each regardless of wether you get a result!:banghead:
We are now waiting to see the genetesists at John Hunter in November, and they will do the tests again with their other tests.
Fragile X does not explain his lack of growth, as he is now 3 years, 8 months and wears a size 2 (with braces to hold up his pants) and is about 1.5 kilos lighter than his 20 month old sister (who at 9'8" born is much more like a usual fragile Xer, as they are normally bigger than their siblings at birth), and around the same height. We believe there is an underlying metabolic issue there as well as the interlectual problem which may well be totally unrelated. The hard part is that I don't know wether I am actually making him sick by feeding him something he shouldn't eat or exposing him to other things which may make him ill. All we do at this point is treat his behavioural issues and hope for the best, basically.
I know this is a long post, but I hope you realise you are not alone in your quest for answers to your baby's health issues. You think that in this day and age you should be able to go to the dr and they send you to a specialist who says this is whats wrong with your baby, and this is what we do for it, but it's a rude shock to the system when they are scratching their heads and saying we would like to help you, but....
Good luck to you, and your gorgeous girls, and to tigerbluebear too.:hugs: to us all for the stuff we have to put our kids through.
Kylie.

[gremily]

Wow, Tigerbluebear and Kylie, your posts were amazing.
Kylie, re geneticists - our's has been really lovely, I could see him over and over. They've always got a genetics councillor with him during appointments, just incase parents feel overwhelmed. He works with another geneticist (who we've met a couple of times) and they also have a team of other geneticists who they talk to. He said he might know 10,000 genetic problems whereas another geneticist might know another 10,000 different genetic problems, so if they work together they're more likely to come across what it is.

We saw him just last wk, and thinks she's do okay. Concerned about her height dropping off, so we're going to have more xrays. Plus he wants us to see an internationally renown professor at Westmead who specialises in bones (EVERY bone, inc head). I'm really looking forward to meeting him, and picking his brain. Geneticist said if prof doesn't know what it is he'll search until he finds the answers.

We had DD2's blood tests done start of last wk at Randwick. Went to have them done at RPAH's medical centre, but they don't do too many babies. DD2's veins were small, they could only find one to use in right arm, and seeing as they needed to take a fair bit of blood they recommended we go to Randwick. They were fantastic, didn't worry about the anasthetic patch (they said even though it numbs the area - yay! - it also shrinks the veins - not good when your veins are already small and hard to find!). They got just enough blood, it was like squeezing blood from a rock towards the end though. DD2 was pretty good, just a small bruise.

This is what I love about BH, ppl genuinely care, take the time to tell you their story, and hopefully help in someway.:thumbsup:

Thanks:hugs:

[mummyof5]

Hi again gremily,
Good to hear all is going well with your little girl. Don't you hate blood tests? Always ring and check if you need to go and get pathology done, as I have learnt thru experience that not every path nurse is keen to jab a skinny little baby arm!! Poor Jocko will cry when we walk into a place now, he recognises the place if we have been once before, doesn't matter where...is also really stressed about being put onto a dr's bed even if it is only for a look, as he thinks there is a jab involved:crying: Also, that patch is no good to him as it makes him break out into an itchy rash!
We are off to the geneticists at JHH in November, and the councellor I spoke to when I made the appointment sounded lovely, so here's hoping they may be able to shed some light, though the ones at monash couldn't.
We were told by the metabolics professor at RMCH that they could well call us up in 5 years and tell us they think they may have a new test to do and give us a diagnosis, or they may never give us one, and he could just be a one off. At least they are honest enough to not give you false hope, but god it's frustrating at times.
Does your little girl have any behavioural issues, or is she just delayed? I think that is the most frustrating thing in our house at the moment, Jock and Bronte are just into mischief all the time, doing the same old stuff day in, day out, and god it gets boring...getting sick of them killing each other when they want the same toy, and sick of cleaning their food off the table/floor/walls, because they had enough, but can't just leave it on their plates till you can get to them. I have to have locks on everything, but now they have worked out how to drag chairs over to light/power switches, and he has worked out how to open the lock on the back fridge, so I spend alot of my day double checking what they are doing and where they are. I used to be able to leave Jock out in the back yard, as we are on a small acerage, but it is fenced around the house (cost us a bl**dy fortune), so that he can play without me having to be with him all the time, but now he has learnt to shimmy under the wire on the bottom of the gates, so he will up and leave if he is in the mood. Needless to say we are trying to work out a way to secure the gates further, as we live on a relatively busy road, there is a creek down the border of our property, and horses in the paddock at the back...not exactly Jock friendly!!!:banghead:
Still he and his sister are the most gorgeous little kids some times, especially when they are kissing each other and happily watching wiggles together...wouldn't trade them for all the tea in china!:no:
Hope all goes well with your professor at westmead, hopefully he can shed some light on things for you.:yes:
Look forward to hearing from you soon.
Kylie.

[gremily]

Hi Kylie,

What a headache you must get sometimes! Do you have someone to give you a break occasionally? We lived in SA up until early last yr, with both parents really close, which meant if I ever needed to do something without Tatum they were always there to help. Now we're in NSW it's kind of hard for that to happen!

Maia doesn't have any behavourial probs (atm:fingerscrossed: ), which I guess makes it ALOT easier. Geneticist doesn't think she's that delayed (you know, all kids develop at different rates), but he also said it's early days still. When he asked what we thought about her development we weren't overly concerned until the paediatrician said something. Tatum (DD1) was an early walker (91/2 mths), talker, etc, so we kind of thought this was sort of 'normal' so to speak. I guess we'll just have to wait and see.

Oh, gotta go, Maia's just woken from her morning nap.:rolleyes:

[mummyof5]

Hi gremily,
Thought I'd check in and see how life is in your house this week.:D
Mine is pretty full on. Jock got his glasses last week - $300, then the same afternoon threw them in the microwave and melted them:eek: . Couldn't believe it!! Needless to say he has to wait another week or two before he gets a new pair!
Am getting a weekend in Melbourne though, as hubby and I are both in the wedding party for Jock's godparents, so looking forward to that. Hubby's getting back into the navy soon, so am going to make the most of every minute I get to spend with him....
Glad to hear your gorgeous little Maia doesn't appear to have any delay, that should hopefully make life a bit easier. We had Bronte's hearing test on Friday, and she's fine, so just have to sort out the speech therapy now, as there is no reason why she shouldn't speak...questions, never answers, story of my life.
Best go, washing awaits.:rolleyes:

[gremily]

Hi gremily,
Thought I'd check in and see how life is in your house this week.:D
Mine is pretty full on. Jock got his glasses last week - $300, then the same afternoon threw them in the microwave and melted them:eek: . Couldn't believe it!! Needless to say he has to wait another week or two before he gets a new pair!

OMG did you just about die when he did that?! $300!!!!!

No news yet on Maia's blood tests or when we'll have an appointment with the prof. Will keep you updated.:thumbsup:

How long does ur hubby have to go away for? Another BH mum's DH is going to Timor for 3 mths (army) this wk. Their bubs has just started walking, etc, and I can only imagine how hard it must be for you guys when they go away. I find it hard enough with DF working as much as he does (50-70hrs/wk). Have you got family/friends to support you while he's gone?

Best wishes.:hugs:

[matty's mum]

Hi
Just thought your birth story sounds the same as mine. Doctor being called in…….
I realise your DD has had the chromosome test, our little boy has Down syndrome and he‘s gorgeous.
I was reading a thread of another forum about a little girl needing to be tested a few times as she has Mosaic Ds. Here’s the link and this is a post her mum made Quote Don't mind at all. Larkin is a good example of many things when it comes to testing

Ok the way it shook out...her first 20 cells tested did not have Trisomy. Her next 30 did not have Trisomy. Her next 50 had it in every cell. Her genetics doc explained much the way it has been posted earlier that they simply cannot test every single cell of the body. We could keep going but I didn't want to.

I stopped at that point because it didn't matter. She has Trisomy 21. Now at this point she is developing beautifully but so are a lot of her peers
http://www.downsyn.com/phpbb2/viewtopic.php?t=19511
And this one
http://www.downsyn.com/phpbb2/viewtopic.php?p=198430&highlight=#198430

Well I do hope you find an answer soon, it must be so hard. Once we knew Aden had Ds the weight just lifted of us. We had only one thing to learn Ds is nothing oh and very , very normal.
I don’t want to frighten you, sorry just thought might be worth a look, maybe you have been down this road and passed it.:)

[gremily]

Well, it's been awhile since I've posted about Maia and a fair bit has happened in that time, but not much has been diagnosed!

Saw the geneticist again and the blood tests all came back within the normal range. Although they weren't able to do 1 of the tests as they didn't quite get enough blood (it was like trying to squeeze blood out of a rock!), but he didn't seem too concerned about that.
He's going to organise more scans but at Westmead Children's Hosp. Full body scans. Also, an appointment with an International Bone Specialist. We'll get the scans done first while waiting for the specialist appointment as apparently it's a long wait. The specialist review cases each wk, so they'll do that then he'll know what to do when we get to the appointment. Our geneticist has already personally talk to the specialist and is hoping he'll be able to move things along a bit quicker (which would be great).

So a couple of wks ago we went back for our next paediatrician appointment. We weighed and measured Maia, and she's still in the lower 10% and has only just slightly dropped off a bit but nothing major. Her appetite has started to pick up dramatically so hopefully next time she'll have gained weight and height.
We've also noticed Maia's left eye is occasionally lazy, but, of course, while with the paediatrician it was fine:rolleyes: , so she's given us a referral for an eye specialist.
We have also been concerned with her hearing, as sometimes she turns when we call her but other times she doesn't even flinch, so she gave us a referral to an audiologist.
The paed seems to think Maia definetly does have a syndrome, but what it is they just don't know.

So today I took Maia to the audiologist and it was great. She checked her ear drums first, and they weren't vibrating as they should, which means there is fluid in her ears. We then did the test where she turns to sounds, loud and soft. Maia turned to the loud sounds, but it was really random as to whether she'd turn to the soft sounds.
As for the fluid, it could either be just because she has a slight blockage from a bit of a cold or it could be a permanent thing with mild hearing loss. The audiologist asked me to see the paediatrician again to check her ears and get a prescription for a nasal spray. We'll see the audiologist again in 6 wks, and she'll have her sister with her (also an audiologist - their parents must be proud;) ) so she's got some help. If the nasal spray hasn't helped and it ends up being a permanent fluid then Maia will have to have grommets put in her ears, which will rectify the problem.
So I dropped in at the paediatrician's on the walk home and luckily enough she was inbetween patients. She gave me the prescription, and actually seemed quite surprised about the outcome.
We have to do the nasal spray once daily for 2 wks, then 2 days off, then again for 2 wks, then 2 days off, then again until the next audiology appt.
We did the first one tonight, and surprisingly she just layed there and didn't even flinch! In fact, I think she though it was pretty funny!


So that's where we are atm. Syndrome......pretty scary word when you hear it for the first time describing your child. I think it's just that stigma though, associated with the word. I look at her and think she's fine. She looks a bit different from other kids, but seeing as she doesn't have any behavioural problems most of the time I don't even think about her being different. It's when I see her with other bubs her age that I realise how small she is.
And I know all bubs develop at different stages, but is the fact that she's not walking or saying any words at 15 mths something to do with the syndrome? I guess 95% of me is positive and I guess quite proactive, while the other 5% is unsure of what will happen and worried about her.
I'm not saying having a syndrome is bad, it's just not what I expected. When all your pregnancy scans are fine, you just expect to have a 'normal' baby, without disabilities etc. I guess if you know what's coming you can kind of prepare yourself for what's to come. For the first few mths of Maia's life I was so worried, and it wasn't helped by the paed we had (he had terrible ppl skills that made me feel terrible).
But I've realised that to me she's 'normal'. She makes me laugh, I enjoy my time with her breastfeeding, and gives the best cuddles.
I'm sure I'm not the only one in this sort of situation, and it makes me feel better to know others have been through this all before and come out of it for the better.

[kiwibird27]

Keep strong, you will go through the grief process at every stage - I know i did, sometimes I would wonder how life could ever continue, or what i had done wrong, or how i was ever going to cope - but you do, we all have strength inside us to cope, it's like a roller coaster journey that is happening in your heart. But you will!!!!

It could be from whatever syndrome, or it could just be her normal development. I found the hardest part was no one could tell me what was "normal" baby and what is her disorder!! And to date they still can't.

Is your geneticist Edwin or Jason at Randwick???? Those are thre only 2 I know and they are great.

Keep us updated!!!

[gremily]

It could be from whatever syndrome, or it could just be her normal development. I found the hardest part was no one could tell me what was "normal" baby and what is her disorder!! And to date they still can't.

Is your geneticist Edwin or Jason at Randwick???? Those are thre only 2 I know and they are great.

It's interesting that the paed thinks she's behind with some of her development, whereas the geneticist said how it's just so hard to tell as they develop at different stages (exactly what I always knew). I think it's one of those things that when someone says it, it just sits in the back of your head and makes you wonder.

We're at RPAH with Robert Ogle as our geneticist. He's really lovely, treats Maia as a real person - not just as a patient, tells us things in Dr terms but also explains it in laymen's terms so we understand. He knows Maia by name and face and doesn't have to look at her charts to know her history (something our 1st paed couldn't do:thumbsdown: ). He also works with Tony Roscioli (sp?) who is wonderful aswell. He occasionally comes in with Dr Ogle to give another opinion.

I had Maia at RPAH and Dr Ogle was the geneticist we were referred to by the original paed. We only live 2km away from the hosp which is good for me. DF works 50-70 hrs/wk and it's hard for him to get days off, so I walk everywhere including to all of Maia's appointments. When we have had to go elsewhere (like to Randwick for Maia's blood tests) DF's work is pretty good about letting him take a bit of time off to get us there.
I think DF finds it hard that he can't be there for her appointments, while I sometimes find it hard to not have him there with me. I'm quite strong and cope easily at them, but it's always nice to have some support.

[kiwibird27]

I know exactly what you mean!!!! I have the exact same issues with appointments etc.
I have the most amazing paed ever, she co-ordinates all the specialists and makes sure Megan has everything she needs!!! She is also through the public system so she is totally free and we see her weekly cause she works at Randwick and our local hospital!!
, I also have her private mobile number if we have an emergency and can call her registar whenever I need. When we go into hospital it's under her and it makes such a huge difference having some-one other than myself co-ordinating things!!! Randwick children's is brillant too and they are used to dealing with kids and parents in our situation. It's there specialty.

Good luck!!

[gremily]

The 1st paed we had was through RPA so his appointments were free. The paed we are with now is private and not through the hosp so we have to pay:crying: . Our 1st appoint was $180:eek: , but after that it's $90. We get about 1/3 of that back through Medicare. It makes it difficult when we already struggle enough with money, but it's got to be done, and she's a great paed. I'd rather pay for her than go back to the 1st paed who was free!

[mummyof5]

Hi Gremily,
Good to hear things are moving along with Maia. Don't panic, we have been hearing the word syndrome bandied around about Jock for the last 2 years and 9 months, and still no name for it!!!
Jock had grommets last year, in September, and honestly it was like turning on a switch, he had single words within a month, and short sentences within the year. No he tells me off!!! Still doesn't have conversations like "normal" kids, but he does talk:smiliedance: .
He got another pair of glasses, really suit him, and will keep them on (because this time we went to OPSM and they have one of those doorbells that ding dong when you enter and leave, so he likes going there :) ), except for the odd accassion when he gets bored or annoyed with them. Like last week when we were driving back from Newcastle (about a 45 min drive for us) and he took the ashtray out of the side of the van, and stuffed them down the hole. Needless to say, Craig spent some hours pulling the car apart to retrieve the glasses from down in the far corner of the bumper...Gotta love him.
Good news is he did another developmental test the other day, and he has come along really well, so even though he still comes in at a 12 month delay, he is starting to get some concepts that should make sense for your average almost four year old.
We have been to see the geneticists again too, this time up here (Hunter genetics), and they assessed Jock and Bronte. Didn't tell me anything i don't already know, other than they don't think he has fagile x syndrome, as he is so small, but then they want to test Bronte as they think she is bigger than normal....:confused: . Anyway, he is having the test done next week, just to rule it out, if nothing else. He may end up with a diagnosis of PDD Not Otherwise Specified, if they can't find another cause, but then that doesn't explain his lack of growth either, and this geneticist seems to think it is all related. At any rate they are keeping some DNA for a new type of test that is coming to Australia soon, called micro ray or something and apparently it looks at the whole chromosome, to make sure every repeat is in the right spot and all the twists and turns go the right way etc etc, sposed to be really good. Who knows, when they do that, maybe they'll find something??
Next year he is off to preschool for 2 days a week, which makes me very nervous for him and them, but so excited too, cause if you had asked me 18 months ago, I would have thought it wasn't possible. He will have the early links team help make him a program, they are sort of like early intervention inside the classroom, and the pre school has applied for funding for him to have his own aide both days.
Bronte will continue going to Early Intervention, and they are both seeing the Occupational Therapist and speech therapist at the local hospital next term.
Gremily, is Maia doing any kind of early intervention? If she isn't talking and walking at 15 months, then she is getting to the delayed side of things, so it may be worth investigating, as some places have waiting lists. Do you get a carers allowance for her? Will help with the costs. Your peads will be able to help you out with the application forms, and will need to sign off on them anyway. If she thinks there is a delay there, I would be inclined to go with her on it, as she would see alot of kids, and have a very good idea of what is within normal range. Besides, any extra help can't do any harm, can it, so if she ends up meeting her milestones, you can always stop the EI, speech or whatever you are doing.
Took Jock to see the endocrinologist too, and he now has weighs and checks every 3 months, so that at the end of 12 months they have a picture of how he is growing (or not). He actually said to me that the more kids you have, the more likely your are to have one who doesn't follow the family traits...so the fact that all my other kids and my DSS are on the tall side, and Jock at almost 4 gets lost in size 2 clothes, and is lighter than his almost 2 year old sister is just pure chance....go figure!!
Gees this post is getting long, better stop writing now:ecomcity: .
Am so glad to hear you are well, we will have to have a catch up sesion and a coffee one day when I come down to Sydney for DH.
Take care,
Kylie.

[gremily]

I'd love to catch up if you're ever down this way Kylie:thumbsup:

The audiologist talked about how I may be eligible for a pension for Maia but she thought it would be unlikely seeing as she hasn't been officially diagnosed with a syndrome:rolleyes:

I was going to write a heap more but maia's trying to climb on my lap and I think it's time to get tea ready. I'll post again later!

[Lunar]

Gremily,
you can get what is called 'carers allowance' and a health care card for her. You need to get the forms from centrelink and get her paed to fill out the relivant sections.
If it is approved you will get $94 a fortnight. It really helps pay for medical bills etc,.

I am in south west sydney, we should try to meet up if you like.

:hugs:

[kiwibird27]

South West Sydney - Me too!!!!! East Hills/ Panania area!!!!!

[kiwibird27]

Hi ya all

Thought I would let u know Megans in hospital again - ICU. She developed a 120ml pericardial effusions around her heart which they drained sucessfully. They put down her new feeding tube which ruptured her bowel and caused chronic line sepsis. The wound from surgery then developed a bad absess which they surgically drained tody. She is doing okay now, line access issues aside. Hopefully out of ICU in a week or so - this of coyurse has put off all surgeries other surgeries for at least 3 months - BUGGER!!!!

Hope all is well

[mummyof5]

Hi Kiwibird,
Just read your last post and thought I'd check in to see how gorgeous little Megan was...hope your christmas wasn't too yucky, and she is feeling much better.
Take care,
Kylie.

[kiwibird27]

Megan is slowly improving finally - because of the absess though she is going to have a massive scar right across her tummy. Probably in ICU for another 2 weeks but she can start having a small amount of milk on thursday!!!

[mummyof5]

That sucks about the scar, but yippee she is starting to get better....:yelclap:

[kiwibird27]

Thanks Mummyof5, She si going well - Maybe back on the ward on Friday???? The ventilator was taken off today and I could have a cuddle without tubes in her face - I nearly cried!!!! It's amazing seeing your kids go through so much and keep smiling!!! At least she met the Wiggles - they sand her silent night on Xmas day!!!!

[vikki a]

Hi, I was just reading this thread and wanted to say good luck with everything. My DS (2nd), Has Asperger's Syndrome, and i took untill he was 9yrs old to get diagnosed!! I knew something was'nt quite right with him since he was about 18mths. Hes seen that many people Since then, its not funny!!But finally a year ago we got some answers!! So i hope it does'nt take that long for you to get some answers. So then you can find out how exacly how to help your child. Anyway big :hugs: :hugs: Im thinking of you all..

[jessgray]

Has anyone else been in a similar situation, not knowing what it is that's 'wrong' with your child?:confused:

yes, my ds1 has mild hearing loss in one ear and moderate hearing loss in the other. at thsi stage no one knows if the grommets he is booked into get in feb/march will fix his hearing or not. he has started talking but he says the words as they sound to him we have been told wrods would sound muffeled to him.

he was a 41 weeker, 17 hour labor, forceps and i was cut. he spent 12 days in SCN with fedding problems (couldnt suck or swallow fo rsome reason) he also had jaundice and needed the lights and for 4 days he had an infection. he went to scn on the wednesday morning he was born on early monday night.

there's been many scary times where i havent known whats wrong with him, when he had gastro again and couldn tkeep water down, when he had his 1st asthma attack. i am taking everything as it comes in my stride. i already know if grommets dont help his hearing he might need to go to a school for children with deafness and hearing loss.
in my ds1's first 12 months he has had gastro,and been diagnosed as lactose intolerant. in his first 3 days oflife he came down with what the dr's suspected was mengitits but they couldnt get the fluid from his spine the needed to test for it so they eneded up giving up testing after 4 go's and giving him general antibiotics ina drip. . i often wonder if thats what caused his hearing problems. but i will never know.
my ds1 is almost 21 months now and he only started talking on christmas day, it was the best christmas present ever :D when people come to our house , they are surpised a thow different ds1 and ds2 are, ds1 has hearing loss, where as ds2 has perfect hearing but is really sensitive to noise and will cry at the slightest sound he finds too loud lol
my ds2 was born with what the dr suspects is a cyst on his head its near his temple aat this stage we jsut have to wait and see if ti gets bigger etc.

[matty's mum]

Hi I found this link to a web site on a forum. There are quite a few children still waiting for a Dx and I though you might like to read through them, some eventually receive a Dx. I haven’t stopping thinking of you and your little girl.
I don’t think it matters all that much if you have a Dx or not but thought it might help with receiving services (help) if you have a Ds (diagnoses ) this is the link also click on the paint brush down the bottom to see more of the children. Something might stand out to you.
Think of you always
http://www.specialchild.com/diagnosis.html

[gremily]

Wow, thanks guys!
I haven't been in here for awhile (went away for a couple of week over christmas) and dd1 has been on school holidays so I haven't really spent a whole lot of time on BH.

Lunar - thanks for that info re carer's pension, etc. It's really hard when we need to do all this for Maia, but then there's everything else like bills, rent, food, and dd1's life. And I'd love to catch up:yes:

Matty's Mum - thanks for the link. I haven't checked it out yet but when Maia isn't crawling on me trying to hit the keyboard I will:D

kiwibird27 - I had a lump in my throat while I was reading about Meagan. It's so heartbreaking when your children are just sick let alone having to be in hospital/ICU. I hope she's doing okay atm and that she's giving you super hugs!

I'd really like to write more but Maia is terrorizing the keyboard and my hands!!

[jessgray]

i wasnt sure if i should start a new thread or not but here goes, we are worried about ds1 he head butts things, cement walls,floors, people. he is hitting people. i cant go shopping coz he freaks out :( this isnt normal 2 yr old stuff is it:confused:

[gremily]

Not for my dd1 it wasn't, but she was an extremely good kid (still is pretty good actually:)). Having said that though there are alot of kids who go through that sort of behaviour. Is this your son who is going to have the grommets? Maybe it's his way of trying to get attention because he can't hear properly or because he's frustrated. Maybe see what he's like afterwards - if he doesn't change and you're really worried talk to your gp/paediatrician.

[jessgray]

we see the ENT clinic on the 20th so we will know if he gets grommets like audiology think he will or not:fingerscrossed: he used to headbutt during tantrums but now its like he does it to just hurt himself:confused:

[kiwibird27]

Thanks Gremily - hopefully home in a fortnight - all going well - it often doesn't. She is bright, happy and alery!!!
Head butting can be behavioural???!!! Would see doctor!!! Probably is a habit and it gets him attention??????

[mummyof5]

Jess, Jock did alot of head butting and self injuring behaviour before his grommets, and it did ease once he could hear better, BUT he also suffers from a behavioural disorder, so it may be coincidental with the hearing thing...is it possible that your son's hearing issues are secondry to a deeper problem?? not trying to alarm you, but I would speak to my gp and get a referral to a peads (preferably to one interested in intellectual/behavioral disorders - your gp can always ring and ask who would be best, mine did), if you don't already have one, and I would go and see them, giving them a run down of these sort of behaviours,all the hearing issues, etc. He may be perfectly fine, but best to make sure. They may recommend him having a developmental assessment, then further treatment from there, and also to get services in alot of places you need a developmental assessment that is less then 12 months old, so it doesn't hurt to get one done.
definately worth checking on.
:fingerscrossed: for your little boy...

[jessgray]

:thumbsup: we are seeing the pead this coming friday afternoon so i will mention the headbutting to her.

i am unsure why he does it, it used to be sort of out of frustration but now he just will do it almost just coz he can:confused: its like he has a high threshold for pain:rolleyes:

[mummyof5]

Jock got his test results for fragile x today, and he doesn't have it....can't believe I am actually disapointed that my son DOESN'T have a syndrome...would've been nice to get a name though.:(

[gremily]

Mummyof5 - does that mean he doesn't have any syndrome but some other issue. Or does it mean he has just has a different syndrome?? I can understand how let down you must feel for it to not come back positive. I think we all get our hopes up - I know I am with Maia's ears re grommets solving not talking, walking, etc.
One of df's workmates told him his cousin's son didn't get diagnosed with his syndrome until he was 11:eek: . It must have been such a relief for them to finally know what the 'problem' was.
:hugs: for a positive outcome soon:)


I find it funny but slightly annoying the comments I get with Maia. Because she's so small (bottom 10% weight and height), she's still only crawling and not talking ppl seem to be quite, well, shocked that she's almost 18mths old.
I also feel annoyed at myself sometimes. I have 2 good friends who have an 11mth old daughter and the other a 14mth old. The 14mth old is almost running, says all sorts of words and is really 'alive' iykwim'. The 11mth old is just beginning to say words and really responds to the ppl and environment around her.
I watch Maia who doesn't talk, walk, often seems quite reserved and almost feel let down. It's almost like slight jealousy at what these bubs are doing.
Has anyone else felt like this in similar situations?
I don't feel this all the time, it's kind of a fleeting emotion that I find myself feeling while watching them every now and then.

[MamaRabbit]

Hello, yes I can relate to your fleeting moments of jealousy. My son just turned 2 and is not yet walking, let along crawling or talking. He looks lovely, is alert and interested and switched on so I find it difficult dealing with some people, but I also make a conscious effort to surround myself with friends and family who understand. I don't mind people asking me intelligent questions out of genuine interest or concern but the silly comments like "so what's wrong with him, my son walked at ....." or worse "you have to teach him".....aggh hello, what do you think I do during hours of physio dingbat?

The good news is that we are doing loads of early intervention in the way of Physio, OT, Speech etc so we are hoping for some small wins this year. He had been medicated for the first 2 years of his life and now that he is off the meds he is like a new little boy so desperate to catch up. He knows what he wants to do, now he just needs to learn with loads of repetition. Like he is starting from scratch. Those damn drugs were no good for his development but I understand they were doing some good and were a preventative measure more than anything else, so I am grateful for that. We are now cleansing his system and ready to start again and get our little boy moving. When we hold him in standing he is so excited, like it's the best feeling, and loves jumping and laughing. He can even take steps occasionally, although alot of the time he bunny hops for sheer excitement, so I suppose it is these little glimpses that show me he has the capacity to learn how to do these things we take for granted.

With regard to searching for a diagnosis or name for a condition.....it's not always all its cracked up to be! Do you want to hear our diagnosis?...... Wait for it...... "Bilateral Periventricular Nodular Heterotopia" (or PNH for short). We received this diagnosis at around 7 weeks? What does it mean? What does the future hold for us? It's anyone's guess, they really don't know. At first I was told it was a seizure related condition, however we haven't had a seizure for 2 years now. The neuro told us the seizure was a red flag to say there might be problems - hence the development delay. Having said that I have met parents of children with the same diagnosis who have never experienced a seizure. It's been the delay that triggered the diagnosis off. The PNH (a speck of grey matter left behind in the white matter) confuses the messages from the brain, such as putting your hand out to stop a fall when you lose balance. Charlie will brace himself and grimace as he knows the fall is coming and what it will feel like, so we need to clear the messages so they tell him to protect himself by putting his arm down for balance.

I believe the meds have had a huge impact on development as in the last month since coming off them he has been so switched on and motivated to move. He's more frustrated whereas on meds he was happy to "kick back". The internet only provides horror stories which thankfully are nowhere near relevant to our case.

Never the less, I do hope you find the answers you are looking for. It does help when you know what you are researching but in our case a label hasn't made much of a difference so I still spend alot of time just finding the best services and doctors to help him on his way because every so often there is someone that leads us down a new avenue :thumbsup:

All the best, and sorry for the long message. You could say I am somewhat passionate about all of this.

[Steel_boot_straps]

Hello all :wave:

I have been reading posts for awhile and after today I decided to join in.

I have just been at my 8 year old sons school with his teachers and the OT, it looks like he may have Aspergers or Dyspraxia. I am feeling a little overwhelmed as we had invested a lot of our hopes in him.

You see, Max is the middle son of three. Our eldest child Elise is 12 a little princess, who has rett Syndrome which has caused severe physical and intellectual problems ( she is like a 30kg baby) and our youngest Bob at 5 has Down syndrome. A Hat Trick!

anyone got some good advice on confirming diagnosis of aspergers/dyspraxia?

[MamaRabbit]

Hiya and welcome. I'm pleased you decided to join in. Throwing ideas around like this is so useful - be it for advice and help in research or just to have a chat with people going through similar things.

I don't know a great deal about Aspergers and Dyspraxia however I did contact the Dyspraxia Association (http://www.dyspraxia.com.au/Default.aspx?Module=Home&Page=Home) recently as I thought they may be able to steer us to some new services. They are basically a referral service with plenty of advice.

I also found this Aspergers site which I'm sure can also assist: http://www.asperger.asn.au/tiki-index.php.

Your local Children's Hospital is also a good place to start.

As for your little hat trick - what a special mum you must be. Special Needs children are only given to the mums who can handle it. These kids don't lack a special ingredient, they have all they need plus a little extra :p

Good luck with your research and feel free to drop us a line if you ever want to chat.

[gremily]

hi Steel_boot_straps:wave:
can't write much as dd2 is whinging on my lap as i type:devil6:
Just thought I'd mention that vikki a has a son who has aspergers. You might want to get in contact with her and talk about how he was diagnosed and what the future has in store.:)

[mummyof5]

G'day steel_boot_straps:wave: ,
In my travels to get a diagnosis for Jock, we went to the child development unit at Westmead Hospital. They assess children to see if they fall onto the spectrum. You need a referal from a peads to get on their list for an asessment, and even then you may not get in (who'd have thought seeing specialists could be so elitist:rolleyes: ). They are in Sydney too, so not near you, but if you speak to your peads, (I am assuming you have one....) they could probably point you in the direction of something along those lines in Melbourne or hopefully even closer. I don't know if this helps at all, but I hope so.
You have my admiration, I can imagine it is bl**dy hard work in your house at times, but I am sure they all bring you lots of love and proud moments as ours all do.:yes:

[jessgray]

:wave: hi guys
well i'm couting down the days till ds1's ENT appointment :fingerscrossed: hoping they say there is a treatmnt for his hearing loss.at this stage they could tell me anything and if it would help him hear better i'd be for it:yes: his pead took a look in his ears and said they were very waxy and try some ear drops to get the wax out,she said if that doesnt help he'd end up having a procedure to get it removed:eek: she doesnt seem concerend about the head butting she thinks it is linked to his hearing loss. if he doesnt show signs of improving she will refer him to a speech therpaist we go back in 6 weeks.
i feel envious when i seekids ds1's age talking to people.he tries hard to talk to kids but they never understand.i know not being ale to hear well wont stop him from being happy and having a great life down the track,if grommets arent going to help.he's just so into music i cant help tinking how nice it would be for him to hear it better without seeing the video clips or having it on loud lol

[gremily]

We have about 21 hrs until Maia's ENT appointment:D No I'm not excited:p :laughing:
Jessgray - The paed told us to use the ear drops the week before we saw the audiologist as Maia's ears were extremely waxing. She couldn't see in 1 ear and barely in the other. I'd kind of assume the wax would be removed if they have grommets.
I'd also think (and from other ppl's experiences) that once the grommets are done the speech comes.

[jessgray]

yeh the better ear is definetly getting a gromet according to audiology but no one knows about the other ear they used to think its was a wax bloackage but now they are saying it could be permenant hearing loss we jsut dont know
well we will know next week on tuesday 20th :smiliedance:

[gremily]

By permanent do they mean forever? The audiologist said Maia's hearing loss was permanent but the grommets would fix that. I looked at it as like when you go through the Adelaide Hills (not that I do this anymore being in Sydney!) your ears pop, giving you a kind of temporary hearing loss. Whereas with Maia's hearing it doesn't just go back to normal after a couple of hours or so, meaning that it's permanent. iykwim!


Oh, and I kind of assumed they would just do grommets in both ears, not just one:confused: . I know this is the case with Maia anyway.

[jessgray]

:yes: yep permenant the audiologist meant life long hearing loss,:( when he said that in november i was kinda sad coz i had my hopes up ds1 would get grommets ti twould all be fixed etc but now they have no clue and are relying on the ENT clinic to figure out what to do:banghead: mean while he is way behind in speech:(

[kiwibird27]

My daughter has permanent to severe hearing loss in both ears, can't be fixed. Don't know if it helps but I got hearing aids through Australian hearing (FREE SERVICE), you will be referred too..... and once you get used to using them, it's actually really easy. We also use Royal Institute for the deaf and blind (ALSO FREE) who do fortnightly home visits and have free early intervention programs. Once you are "OFFICALLY" diagnosed things start moving and speech therapy etc will get heavily involved, They will help your son get back on track. Depending on the loss you are also automatically entitled to carers allowance and healthcare card!!!

Hope this helps??? It's tough in the beginning getting confirmation but once you know u can deal with it!!!!

[Foxymoron]

I totally understand what you're all going through... Not having a diagnosis bites! My son seemed quite normal at birth, however the midwife commented on his hands looking "like they were missing some bones" but she didn't give us any referal or tell the paed. I struggled to breastfed him, and even when I tried a bottle to get SOME fluid into him it took forever for him to drink. He had a severe tongue tie, which they said would stretch ( Yeh right). Eventually a midwife at a lactation clinic found a teat through which he could drink. At the time NO ONE bothered to notice he had a weird palate- not cleft, but just abnormal ( according to his paed now- could have saved me 4 months of trying to breastfed and feeling like a massive failure!)
Later we became concerned that he had autism, and he was put on the waiting list at travancore. Not wanting to wait, I got him assessed privately at RMIT, where they said that yes, he had mild autism. We seemed to have something we could work with. But his behaviour changed again over a year and when Travancore rang us 20 months later I was happy to go in and get them to look over him. I was confident now tha the didn't have it. So were they- but most confounding, he has many features of autism! They said with his history they'd love to see himn when he gets older again, because they had such a hard time deciding whether or not he had it. They refered us to the RCH genetics clinic. He came back negative for fragile x, but he has so many 'features' associated with having a syndrome. Nothing that fits into a syndrome that they know of. So I have an intellectually disabled child for whom I have no diagnosis and no help, no support group... That is the part that I find upsetting. No one I know is in a similar circumstance. We have to go and get the full body xray as well. Not looking forward to it, my son was freaked out enough just getting one hand done for a bone age test. (He is TINY, looks 4, not 6.5)
I've been on the grief and hope rollercoaster myself for a couple of years now.
(((HUGS))) to all of you who are in the same boat.

[gremily]

:wave: Keara. Sounds like you've been on a bit of a rollarcoaster.

Had Maia's appt this arvo. Ent wasd fantastic. Maia will def need grommets. Public - he has a 6 mth waiting list. Private - it could be done in the next 2 wks but...........will cost us approx $1500 depending on which private hosp we do it at:eek: . He was great, no pressure, will have his secretary send us some exact monetary figures for each of the private hospitals he does it at.
So what the hell are we to do? We can't possibly wait 6 mths, that's just ridiculous. But we don't have $1500! I think it's going to be 'chat to our parents night':rolleyes: . Maybe we might be able to work something out:fingerscrossed:

I'm in the process of filling out the forms re applying for health care card (which is most certain we'll get) and also the Carer Allowance or Payment (not sure whether we'll be eligible for that). Paed is going to do the dr's report needed for the latter and we'll talk to her about it at our appt on Thurs. MORE money for appts this week!!

[kiwibird27]

I think it's disgusting u have to wait that long - Is the wait that long just at that hospital or at all the hospitals with all surgeons???? I know some ENT's only recommend some surgeons??!! I also think it's disgusting that he will do the desperately needed procedure for you if you pay him ....... would check out other hospitals and different ENT's!!! And find an ENT who isn't out to put cash in his own pocket

[jessgray]

kiwibird27-
that does help thanx. my ds1 has hearing loss in both ears its now moderate in his better ear and moderate to severe in his not so good ear:( so its gotten worse since november coz it was mild in the good ear and moderate in the not so good ear back then.
my ds1's pead is going to organise a referal to speech therapy in 6 weeks time,well her words where if he doesnt improve in speech (i dont see that happen in 6 weeks )she is hanging out to se what ENT deicide is best treatment so for us everything is relying on next tuesday. we spoke to c/link about carer's payments and they said coz its affected his development in speech he probably is eligible.we have the forms to hand in and stuff we see our gp tomorow to get the dr one filled out, i figure if the powers that be at c/link decide he cant get it oh well.

[jessgray]

I think it's disgusting u have to wait that long - Is the wait that long just at that hospital or at all the hospitals with all surgeons???? I know some ENT's only recommend some surgeons??!! I also think it's disgusting that he will do the desperately needed procedure for you if you pay him ....... would check out other hospitals and different ENT's!!! And find an ENT who isn't out to put cash in his own pocket

:mad: public health system so dodgy its all about money :shame: i agree with kiwibird27 find a new ENT:hugs:

[kiwibird27]

If you need more advice let me know - tell your paed u want to refeRALL now CAUSE U WILL HAVE TO WAIT FOR THE APPOINTMENT........ You have to really push for what u want!!!! No point waiting for speech when he has problems now. May as well get on with it. Ask for a referral to some-one who is in the public system at a hospital or some-thing - private costs a fortune!!!! Hearing loss is automatic acceptance for carers allowance, carers payment is different!!!

[jessgray]

yeh the payment form says 45hz or more
what is the average wait for speech therapy in public hospitals?:confused:

[gremily]

I think it's disgusting u have to wait that long - Is the wait that long just at that hospital or at all the hospitals with all surgeons???? I know some ENT's only recommend some surgeons??!! I also think it's disgusting that he will do the desperately needed procedure for you if you pay him ....... would check out other hospitals and different ENT's!!! And find an ENT who isn't out to put cash in his own pocket

That's the wait at the public hospital he does it at (Randwick):thumbsdown:
He is the surgeon. The private price is for him, anaesthetist and the private hospital (he does surgery at either Randwick private or Chatswood. He said Chatswood would be cheaper as it's not a big hospital). We would get medicare back for him and the anaesthetist but not the private hospital.

I'm just wondering how much difference there would actually be between surgeons? I'm sure that the wait would be just as long (were told this by our paediatrician and the audiologist).


AARRRRGGGHHHH! Why does it always come down to MONEY:mad:

[kiwibird27]

Was that Lowinger by any chance???? Might be worth ringing westmead??? Or going to a hospital further out of the CBD????

[gremily]

Was that Lowinger by any chance???? Might be worth ringing westmead??? Or going to a hospital further out of the CBD????

Dr Taplin. Was going to call audiologist today, as they have an ent there. I'd just like to know prices really.

Had a great phone call with my dad last night. Cried my eyes out. He's really supportive and suggested a few things.:hugs:

[jessgray]

can a Gp refuse to fill out the carer's payment/allowance forms? yesturday our gp pretty much said she wouldnt fill them out coz she thinks ds1 "isnt sick" she belives the payments are only for sick kids:mad: then when i said waht about the fact its affected his speech and langauge development she said "oh, well lets wait till he sees ENT.if THEY say he is hearing imapired i will fill it out":banghead: wtf are all the copies of hearing tests results then??? are they just paper to her??! i am so annoyed coz now i have to get ENT to fill out one of the forms then go to her get the big one filled out. ds1 isnt even up to the 12 month old standard of speech development so i cant see why she wotn fill it out. she seems to think hsi hearing can be fixed. and stuff well thats all good and fine but what about the speech therapy he needs:confused: and the fact we cant get him looked at for any behavioural stuff till his hearing is being treated.
i feel like no proffesional is prepared to acknowledge ds1 isnt hearing well and they jsut want to pass the buck to someone else:crying:

[kiwibird27]

If u have the audiologist report then why won't they do it??? I am confused too!!!! There is a section - you can read it that hearing loss below a certain level is automatic acceptance??? Do they think his hearing may improve?? Maybe thats why. You will get back paid though!!!

[jessgray]

well the gp just looked at the copy we had, and was like this doesnt really say much except his resutls reflect the better ear because it was free field and that he hs one glue ear :banghead:
she thinks his hearign will get better but i honestly think its getting worse.:( he isnt very responsive when you talk to him he just looks at you like i see your lips moving but i have no clue waht youa re on about:crying: to communicate you have to point and yell and use gestures or else he will jsut look at like you are wierd and head butt you:laughing:
i'm going to get audiology to give me copies of all of ds1's hearing test results since birth and hand them in with his form that parents fill in seen as how we have to wait for next tuesday

[gremily]

Geez Jessgray, I would have assumed they would just fill it out and let centrelink decide whether you were eligible or not. Do you have a paediatrician or do you just see a GP? Might be an idea to get a referral that way the dr is specifically child orientated and would perhaps have a better idea regarding his hearing.
While we parents can be a bit paranoid occasionally:cool: , there's no better indicator of how a child is healthwise/mentally than a parent.


Maia's Grommets - it's official. Thursday 22nd February we will be giving our littlest girl a chance to hear properly:smiliedance:
I rang the other ENT (spoke to secretary) and I would have to actually have an appt with him to find out waiting lists/prices/etc. I've had other ppl tell me $1500 is really reasonable (they've paid upwards of $1800). We talked it through and decided to max out the credit card as, even though it means will struggle financially for a bit, we can't afford to wait 6 mths to get it done publicly. 6 mths is a long time to put on hold her development.
The ent's secretary was really helpful when I spoke to her yesterday. She's going to send me out all the forms, info re day surgery and on fasting:eek: . The only issue we have atm is Maia is due for her 18mth immunisation (she's 18mths today!!). The ent is going to call me today and let me know whether to have it done now or wait until afterwards. I think, from memory, there's a month leeway to have the shots done anyway?????

Df is having a review and will get a decent raise in 1 1/2 mths, so if we can get through til then hopefully it will be alright.:fingerscrossed:


Now though, I'm waiting waiting waiting for Thursday week! Excited, nervous, hoping for a positive outcome but trying not to get my hopes up toooooo much!

[Foxymoron]

Jessgray, take your reports to a Paed, don't even BOTHER with the GP. The paed understand the developmental issues that accompany the hearing loss. If it's approved you'll be back paid for a years worth (if the paed states that it's been present for a year).
Best of luck to you!
Yay Maia, hope the grommet op goes well :smiliedance:

[kiwibird27]

Megan's immunisations are 2 months behind so don't worry!!!!

[jessgray]

we have a pead i think i will give her a call see if i can drop the forms off and then pick them up or something:idea: if i ask audiology would they give me copies of all ds1's hearing tests since he was born? coz that would help our claim and the pead:laughing:

[gremily]

Audiology would/should have copies from all of the tests and should be able to give them to you (photocopies).
Whenever I have forms for the paed I just drop them off and they get her to do it. There have been times when I've dropped in there and she's just finished with a patient and she'll have a quick talk with me about any issues. She's great:thumbsup: (Dr Joanne Leal - Central Paediatrics).
We have our next appt with her today. Df has the day off :eek: so he's actually going to get to come to one of Maia's appts!!!!! I'm not sure if I'll be able to cope with him there:laughing: . TBH In the past 8 or so mths that J.Leal has been our paed I don't think he's EVER been able to come:(

Work has given him next Thursday off without question for Maia's grommets. They're trying to become more family orientated and cater to the guys offwork needs, and what could be more family oriented than that!

[jessgray]

cool i will give audiology a buzz today:thumbsup:

thats pretty accomadting of your dp's work:thumbsup:

i think if i can get copies of all the hearing tests it be good coz ds1 has never passed a test in his life:no: his hearing has just progressivly gotten worse. 5 more sleeps till we see ENT :smiliedance: lol

i still cant belive my gp though she fully believes the carers payment is only for sick kids. i told my mum when we went oer there to pick up DP's ice cream (he got mum to order some home icecream for him lol) she said my sister had trouble getting a similar type form filled out about 6 months ago.but mum ended up just getting my sis to see my mums gp at the same place. my gp asked me if i was going to have a break from having kids for a while *blinks*
lol

[gremily]

I love it when they ask you about having more children:rolleyes:
I've never had them tell me I shouldn't though! After Tatum was born I had ppl asking me when I was having the next one (MIL would have been the top of that list:devil6: ). Since Maia's been born I have ppl ask if we'll have anymore, so more of a curious question rather than a direct "you should have another one asap"!!!. I always say the same thing - not at the moment. But not saying never. If it happens it happens.
I don't want to say never and then have another and someone feel like the child wasn't wanted iykwim.

Ppl can be so well meaning but most should probably just keep their mouths shut:laughing:


Re df's work - he work 50-80 hrs/wk. If they didn't let them have days off occasionally I don't think they'd have anyone working for them!

[Foxymoron]

Shesh, I'd have to bite back if my GP said that... Along the lines of sticking to objective comments and save the subjective opinions for oneself- makes for a better bedside manner. A degree doen't maketh a better person!
Carers PAYMENT is for SICK kids, carers ALLOWANCE is different, and helps with things like speech therapy costs and and ongoing things when you have a child who suffers a constant but non life threatening condition. She should get her facts straight!

[kiwibird27]

Shesh, I'd have to bite back if my GP said that... Along the lines of sticking to objective comments and save the subjective opinions for oneself- makes for a better bedside manner. A degree doen't maketh a better person!
Carers PAYMENT is for SICK kids, carers ALLOWANCE is different, and helps with things like speech therapy costs and and ongoing things when you have a child who suffers a constant but non life threatening condition. She should get her facts straight!

I agree - the 2 payments are different, allowance and the healthcare card are the ones for you!!!!

[Lunar]

Jess, is it the carer's payment or carer's allowance you are applying for? I have tried to stay on top of my reading in this thread, but I'm a lil lost and:confused:

As for ppl asking if you're going to have more children... I get this ALLLLL the time. Ppl immediately think cos you have one child with special needs you are probably going to have another:banghead: if they bothered to read anything on Down Syndrome they would see it is NOT heriditary and just cos I have one doesn't mean I'm going to have another. It sh!ts me to no end.

I would just like to say that we all have GORGEOUS children! Kiwibird, I always LOVE looking at your av, she is sooo beautiful.

[MamaRabbit]

Hiya, I'm a little lost about the payments too - we started getting the carer allowance for my son (along with a health care card) about a year ago. They even back-paid to when he was diagnosed at just 6 weeks of age. I didn't want to bother our busy neurologist with all the paperwork so our GP completed it all. I'm not sure what the salary bracket is for the carer payment, I've not yet looked into that one.

[Foxymoron]

Your paed would make you aware if you should apply for it. My understanding is that it is for chronic illness that requires 24/7 care for everything- say if you had a wheelchair bound child or bedridden with cancer or some severe ailment. HTH :)

[gremily]

Our paed filled out ours today. Gave it to her on Monday and she had it ready for our appt today with just a couple of Q's re things she wasn't sure of. I'll be sending it all off tomorrow after I've double checked everything.

She's anticipating a good outcome with Maia having grommets. We already understood speech, balance and walking would benefit from the op, but things like appetite (eats many different things, but very small amounts) and eyes (looking straight ahead. Her left eye sometimes looks off to the side while the other is forwards). Once the op is done it will give us a really good indicator as to whether all of the above is linked or if it's syndrome related. Have another appt with paed in 3 mths - will give Maia enough time to develop with her hearing 'fixed'.

[jessgray]

well from what c/link told me ds1 could possible be elgible for both payments.so we are applying for both giving them all the info they need and letting them decide :laughing: when i rang the carer's line coz i wasnt sure what i should do if i couldnt get the forms done in time the lady was really nice and after i told her how delayed ds1 was in speech coz of his hearing (as far as we know so far) she said we should go for both payments.

i rang audiologoy and the lady said she could give us copies and i said i 'd call before i come to pick them up (today) so they are ready:D

its so frustrating coz i know people who have been on disability all their lives and they arent disabled at all:no: they just cant read coz they dont want to. i know genuine dsylexics and these people on disabilty arent genuine. Peeves me off coz here i am trying to get the damm forms done and i have to fight to get them done, and he is genuinely impacted by hearing loss.:shame:
thats my rant for the day lol

ETA: from what i read in the payment form info book the payment is for anyone with a mental illness,disability and chronic illness theres a whole list that are automaitcly accepted

[mummyof5]

Hi all, haven't checked out this thread for a little while.

Keara, sounds like you and I should get our boys together and compare notes, as we appear to be on very much the same quest and have very similar children...who knows, maybe the only 2 out there:D .

Have :fingerscrossed: for the appointments this week and for Miss Maia's grommets. Hope she recovers as well as Jock did for his first set. Thinking we will be back on the waiting list realy soon, as his ears just keep oozing foul smelling wax.:barf: Have you seen an opthamologist about her eyes, Gremily? Sounds like a turn or overactive ablique muscle or something there, and the turn especially is unlikely to fix itself. I would be getting a referral for that one too...I know, it's all just money! You will go over your family saftey net with this op, though won't you?? That should mean a fair amount back, so any bills after that will be small. Remember the saftey net runs on a calander year. Make sure you all are registered as families for it, as it is NOT automatically done by medicare!! Ok, lecture finished:laughing: .

By the way, got a call from Hunter genetics on Friday arvo, and Bronte has tested positive as a carrier of fragile x syndrome??? So Jock doesn't have it, but we do carry the syndrome??? Needless to say, we go back next month (I will need to be tested, and probably DH as well) and they are now talking about retesting him.

Oh well, the saga continues. Have a great day ladies.

[jessgray]

:fingerscrossed: ds1 has his ENT appointment today.
havent got much sleep last night or the night before coz ds1 isnt sleeping well

[kiwibird27]

Good luck with appointment

[jessgray]

:thumbsup: thanks i will try and pop back here afterwards or i will just post how it went tomrow which ever time has dp off the computer:laughing:
i'm pretty nervous coz well we know 1 ear will get grommets but no one has een able to say what will happen to the other ear:o

[gremily]

Jessgray - I was thinking about you yesterday and how your appt would go today. :fingerscrossed: for the best outcome.

Mummyof5 - I'm pretty sure we're registered with the safety net thing. We don't have to do it each yr do we? Who would I call about that to find out?

And it's a bit bizarre that Bronte is a carrier of fragile x syndrome but Jock doesn't have it even though the signs are there. Tests, tests and more tests!

We got a referral a couple of mths ago for the opthamologist but have been concentrating on her ears atm. Paed said ears may have something to do with her eyes, so we'll wait and see what happens. If there's still probs in a couple of mths we'll make an appt. DF's sister had/has a lazy eye and someone else in his family, so I'm anticipating we will end up having to see the eye dr.

Getting very antsy about Maia's op coming up. It just can't come soon enough! She in the morning block of ops, will get a call tomorrow to find out what time. She has to fast from midnight (or 7 hrs):eek: . This is the part that is going to be hell. She still wakes twice during the night, around 11pm-ish and 3am-ish for a bf. We've decided to just get her up at 3am (or when she wakes around then) and keep her occupied. Hopefully she'll then get really tired and go to sleep without a feed around 6ish and we can drive to the hospital:fingerscrossed: . We're assuming she'll be one of the first in seeing as she's young. Hoping there's noone younger or more urgent:laughing:

[mummyof5]

Hi girls, thinking of you all, stressing through appointments and ops.
How did he go Jess???? I'm hoping they told you grommets should help both ears and they will get him in asap. :fingerscrossed:
Gremily, if you've registered, it stays that way, so that's good. The timing sucks for littlies ops, doesn't it? And there is bugger all you can do about it, just put up with their hungry whinging and be as nice as possible about it. I hope for your sake she is as good at recovery as Jock is.
Have a great day all.:D

[kiwibird27]

Hope all goes well gremily, The fasting is hard and hopefully the op is early. Megan recovers quickly so am sure Maia will too!!!! We are due to see opthamology in 2 weeks, children with Megans disorder usually have issues with crossed eyes and general vision problems. Thats all we need glasses as well as hearing aids. Nevermind, would rather know and get on with it!!!

Mummy of 5............. confusing, genetic's must find u guys fasinating???!!!

[jessgray]

well our ENT appt went as well as it could go. Cody wasnt pleased about ppl poking stuff in his ears and yep he shed some tears and threw a tantrum dp had to hold him still the whole time too. the ENT guy said he was used to kids reacting this way:laughing:
well, in a sense it was bittersweet for the results. the good news is he probably wont need grommets after 2 ENT dr's poked in his ears to check. the bad news is we are no closer to a diagnosis:gloomy: . in 3 months we will be going back. he will have a hearing test done the same day so we can take the results to ENT. they pulled some wax out of his ears but i havent noticed a change in his responsiveness if that makes any sense.
The ENT head dr was the 2nd guy to check codys ears he said at this stage grommets might not help right now but his hearing loss was conductive.he said fluid comes and goes so he could need them in winter who knows.because cody has never had a hearing test resu;t in his whole life in the normal range in either ear they want to see him again.
they acknowledged it had affected his speech alot.so i think the way its looking cody may need hearing aids or something along that line.the head ENT guy said the fluid in his ear was almost gone.:yelclap:
the part that i guess annoys me is his pead cant get cody checked out for bahvioural problems till hearing is treated i just want a word so i can say he has this:banghead:
sorry for long post

[kiwibird27]

Can't believe it takes that long 4 a simple hearing test.can u get your paed to get u an appointment sooner, I know my paed does that for us if needed??? You could argue that 3 months is a long time to catch up developmentally.and u need to know now. Is your paeds doing the right thing by u???

[jessgray]

our pead is great she has got ds1 booked in the allergy clinic at RCH melb we just have to wait for them to say when his appt is if that makes sense. the day we asked for a referal she faxed them :D
i think i will call her in the morning ask her to talk to ENT, coz he isnt up to 12 month speech standard so 3 months could make it worse:gloomy:
audiology orginally after the november test wanted to see us near ds1's bday but now i dont know if they are going to see us then still or just go with ENT :banghead:

[kiwibird27]

suppose it makes sense cause they need to know exactly what is wrong before they can get an accurate test!!!

[gremily]

:hugs: Jessgray. You must be feeling pretty frustrated and distraught atm. It's annoying that in order for one diagnosis to be worked out they need to find the diagnosis to another problem first.
I think we've been pretty lucky in that Maia's ear probs have been worked out rather quickly. And it will also help in ruling out possible links with a syndrome - that's if there's changes once the grommets are in.

Thinking of grommets :) I get the call today to find out what time Maia's op will be for tomorrow morning. Dd1 is going to stay with one of her school friends tonight, which will be a huge weight off our shoulders not having to worry about school stuff in the morning. A new chapter in Maia's life is about to begin:)

[gremily]

Welllllllll............. I just got the call!! 8am she's booked in for which is fantastic. And the fasting isn't as bad as we thought either - nothing from midnight but she can have some water or apple juice until 6:15am. See if she'll have a bit of panadol for some pre-pain relief.
And the op only goes for about 15 mins!! That was a shock, we kind of thought it would at least be an hour. So now I'm even more excited!

[mummyof5]

Oh gremily, that's great. Hopefully there will be no delays or anything, and she'll be hearing so much better by tomorrow arvo!!
Jess, bummer about having to wait longer for more tests, I so can empathise with that feeling!! Are you doing some speech therapy in the mean time? I would definately be trying to get some speech therapy and/or early intervention up and running for him.
Kiwibird, yep, fascinating is one word for it....:rolleyes:

[jessgray]

:no: we havent started any inervention programs yet i dont know where to go to get him in one. his pead is organising the speech therpay referal but i am guessing we will need to wait a bit for his 1st appt.

on the good note: i think the wax removal has helped him hear better i have noticed he is more responsive and we had the tv down lower then normal and he still heard it (he danced to the home ice cream ad:laughing: ) so now we just need to get the speech happeneing. DP said cody can hear us its now just him not being able to or not wanting to talk:confused:

[Lunar]

Emily, are Maia's ears small? Do the Dr's have trouble looking inside them? I think I remember you saying somewhere that her ears are small and low set? Correct me if I'm wrong.

The first time they tried to put grommets in Em's ears, what was supposed to be a 15 min op turned into 45 mins!!!! I was freaking out!!!
Turned out her ears were too small for even the smallest specially made grommets, the ENT said her ears(canals) at 20months were the smallest he had ever seen even on a newborn! So he had to perform a myringotomy (sp?) it's where they put a tiny slit in the eardrum to act like a grommet for a while until it heals back over. They then attempted again about 8 months ago when they took her tonsils and adenoids out and they still couldn't fit them in so another myringotomy was performed. Kailah is 11 months old and Emily is nearly 5 and their ears are the same size... and Kailah doesn't have big ears either by the way... just to give you an idea of how small her ears actually are..lol.


Ok, sorry, I didn't mean to scare you with all of that, and I hope i didn't. Just telling my experience and maybe give you a lil heads up.

But I'm sure everything will be ok and the grommets will go in. :hugs:

[jessgray]

that sounds like my ds1 but theENT said he doesnt need grommets:rolleyes:

[mummyof5]

Here's hoping the wax removal will help some more sounds/speech to come on in the next few weeks, Jess. He sounds like Bronte, except she has perfect hearing, but is still non verbal at 2 years. She says maybe 5 words, has a couple of sounds she uses regularly and that is it...like she just couldn't be bothered!!
If I were you, I would be asking at the health clinic what is available in regards to early intervention and speech. Your local nurse should be able to point you in the right direction and those 2 services you can usually get into without a referral. That is how we started at early intervention, we were on the mornington peninsula and went to Biala at Mornington. Not sure what is on offer on your side though. Try your local hospital speech department for therapy waiting lists too. They do young kids, that's where I take Bronte and Jock.

Gremily, here's some virtual :hugs: for a quick and successful op for young Maia tomorrow.

[jessgray]

well my little darling cody has mastered the art of changing his own nappy :laughing: he has now started taking off pooey nappies placing them at one end of his cot and then cries till someone comes and points to it :laughing:
he also has done a few poo's in bed :o lol
i think he is having a reaction to something atm , he is a bit more regular IYKWIM then normal lol. gunna have to go through his food diary to see waht ti could be.
i see the mchn tomorow primarily to get ds2's 4 month check up done but she always asks how the other munchkin is when its for the other one if that makes sense :laughing: ds1 will be there coz i want to see if he ahs lost more wieght since his last weighing at the pead's.

[gremily]

Not Speaking - Our niece (df's sister's) went through hearing tests, eye tests, mouth tests (checking to see if roof of mouth was 'deformed') only to discover there was absolutely nothing wrong, she just didn't want to talk. Big brother did all the talking for her, and at 3 yrs old she only said a handful of words but otherwise pointed/grunted etc if she wanted something or to show you something. She started talking more by 4, I'm pretty sure they did some speech therapy with her to help. She's in kindy now (preschool for those of you here on the east side!!) and is due to start school next term, but is likely to be kept back for another term just so she can catch up a bit and gain some confidence.

Lunar - Great memory! You're kind of right. Maia's ears are low set, but I wouldn't say they're small. At birth they were curled over at the top, one is "normal" now whereas the other has unfolded a bit but still curls over a bit at the top. They also don't seem to have alot of cartilige in them, so they're quite soft.
I don't mind knowing things that could go wrong during the op. We know there are risks, but we're just hoping for the best possible outcome:fingerscrossed:

Jessgray - great news re less wax in ears! Did the paed or ent suggest some ears drops to help get rid of any more wax? We had to use drops in Maia's ears for a week before her first hearing test as the paed couldn't even see into them. She still has a fair wax build up though. On a gross note, I'd be interested to see how much wax they get out tomorrow during the op:D
Oooh, and poo's in the bed!! I bet that was a horror scene:laughing:

Thanks for the:hugs: and best wishes everyone. I'll hopefully be able to find some time tomorrow to let you all know how we go.

[gremily]

Maia woke at 4:30am, later than what we expected which is nice. DF is just giving her the obligitory bath they said for her to have before the op.
I've got her pj's to put on (they said to put pj's on her. Prob is I had to find some that fit her! It's so hot and humid her at night she often wears a light tshirt or nothing at all!).

I had to put a dressing gown on so she wouldn't try to have a bf. She instead cuddled up and stuck her hand in and insisted on grabbing my nipple and rolling it between her two fingers:eek: .

Wish me luck!!

[jessgray]

gremily good luck today:hugs:

cody doesnt have any one who does his talking for him so we cant work out why he wont talk:confused: theres no big bro or big sis telling us things for cody:laughing:

ENT didnt say anything about ear drops. our pead said last time we were there to use ear drops but i dont think they do much,the smell of the ear drops makes me fell :barf: lol

[gremily]

All done! Got there by 8am, and there was meant to be another 1yr old before Maia, but they were late so we got moved into 1st place:yelclap:
I was 1/2 way through reading an interesting story when they came out to say it was all done! Op went really well, she had ALOT of fluid especially in her left ear.
She was very groggy and miserable for about 3/4 hr afterwards. Had bf and lots of cuddles. Ended up putting some local anasthetic drops in her ears to help with the pain and she calmed down within seconds.
Have drops to use for the next 3 days to keep area clean and help with healing.

So now we just have to wait and see what the results will be:fingerscrossed:


Jessgray - the ear drops do smell pretty bad. I ended up doing it while Maia had a bf so they could sit in her ear for awhile without her turning her head. It really helped to get wax out but only if it was in her ear for a bit. To start with I tried to do it when she slept but she just kept turning her head and the drops would seep out.
If cody does have alot of wax I'd maybe look into something like that, it may help.

[Foxymoron]

:thumbsup: Thats great news, glad it all went smoothly.

[Lunar]

FABULOUSO news Emily! So glad it all went well, hope she is back to her bubbly self very soon.
Been thinking about Maia all morning:hugs: to the lil angel.

[mummyof5]

Excellent news about Maia's operation going so smoothly!!

Jess, if you are going to try ear drops, make sure you buy the ones with hydrogen peroxide in them. Dr tells me they work much better.

[jessgray]

we have ceramol drops atm i think thats waht they are called:confused: they are in a marone (sp?) and white pack. they dont seem to do much at all:no:
mchn said cody probably doesnt qualify for the programs for kids his age for early intervention:( the ones here require kids to have multiple disabilites. she suggested we look into seeing a private ENT to get a 2nd opinion to be 100% sure. DP was satisfied with the verdict of tuesdays appt but i wasnt:gloomy:

[gremily]

ceramol - that's what we used. God they stank!! Like I said above, it really needs to sit in the ear for awhile before it works (which means laying on the side for a few mins, great for kids:rolleyes: ).

Are you seeing a public ent? If you're not happy definitely see another. It's what we did with our paed - we had one "assigned" to us at RPA when Maia was born and we loathed him. When Maia was 1 our gp gave us a referral to a private paed and we love her:thumbsup: .
Maia's ears didn't sound as bad as Cody's so I personally I would get a referral for another ent asap.


We had a crappola night last night. Maia's ears were pretty sore and she just didn't want to sleep for long. We ended up having her in our bed and I swear we only got a few hrs sleep. Just keep thinking to ourselves it won't last long before she's alright.

[jessgray]

:thumbsup: yeah i am going to ask the pead to refer us she is in brisbane atm til next week.
i hate the smeel of the ear drops and cody doesnt liek anything touchign his ears :laughing: as soon as you touch hsi ears he gets crankya nd trys to pull it out:laughing:
i emailed an early intervention program in geelong :fingerscrossed: hope they can point us in the right place for cody

[mummyof5]

Sounds like you are doing everything you can to get Cody sorted, Jess, just keep plugging away there:thumbsup: . Good luck with the early intervention.

Sorry to hear about Maia's cruddy night Gremily, hope she is better this evening.:yes:

[jessgray]

i'm starting to just email ppl and call ppl coz it feels like we are sort of having to outsoruce everything ourselves :banghead: then today i remmebered the name of the place that runs the early intervention program the nurse said he prolly didnt qualify for i googles it found their site (everyone has a site these days lol) and sent a email to them so hopefully next week i get a reply:fingerscrossed:


gremily how is maia now?

[kiwibird27]

wOW I MISSED ALOT..BEEN IN HOSPITAL FOR A FEW NIGHTS, was concerned about the serious vomitting, turns out she is leaking protein from her kidneys again and her albumim is low. The vomitting stopped yesterday by itself??!!We were allowed to go home and have to dipstick her urine daily, if it shows any protein then we have to go back. Probably need an albumim infusion next week!!! Don't care as long as we can do it as an outpatient and don't have to be admitted!!!!

Gremily...so glad the grommets went well!!!

[jessgray]

:hugs: is your dd ok now?

[mummyof5]

That's not good, kiwibird, hope Megan is feeling better now. Will keep :fingerscrossed: for the treatment to be as outpatients this time...

[kiwibird27]

Thanks Mummy of 5, My life seems to reveolve around hospital admissions, Her urine still tests positive for protein but not at he same alarming levels so don't have to go in till Monday. I am thinking the vomitting is cyclical vomitting...don't want it to be because there is nothing they can do about it. Normal reflux, even severe doesn't just stop by itself then get progressively worse.

Her kidneys is probably Nepphrodic symdrome, hopefully not severe,they won't do transplants on children with multiple issues!!!

[mummyof5]

So, the saga that is my life continues, LOL. Went back to see the genticists today, following Bronte's + test as a carrier for fragile x syndrome. Now have to be tested myself, so to see wether I am the carrier (as we suspect) or if not then hubby will be tested. Then we get to have the discussion about wether to test the other kids to see if they are carriers, silly me thought they would do this automatically, but some Dr's believe you should wait until they are older:confused: . I thought it would be better to know sooner, so it is just something that is normal to you...anyway I did make my opinion on the matter clear about that, so am hoping the geneticist agrees when the time comes.
The best bit was though, that she told me there is a lab in sydeny doing the microarray testing already, so she is going to hit them up to do Jock's for us!!!:smiliedance: :smiliedance:
Hopefully in the next few months we might actually be able to shed some light on the question of what is Jock's diagnosis:fingerscrossed: .

[MamaRabbit]

Hi Mummyof5....that is good news....well sort of. It's progress none the less. Here's hoping they come to the party with testing everyone so you can nip it in the bud one way or the other. We'll keep our fingers crossed for you :fingerscrossed:

Kiwibird - hope Megan is feeling better.

[gremily]

Had to ring Centrelink re 18mth immunisations and enquired about our application for healthcare card and carer allowance. Very happy because we've been approved:smiliedance:


Maia is continuing to improve. Is climbing sooo much which I'm linking to her balance issues.
New sounds but no words yet.
She's into piggy-backing atm. Especially with Tatum! If Maia sees Tatum sitting down she'll crawl over to her and climb on her back. She thinks it's hilarious!

[mummyof5]

Excellent news on the health care card and carers allowance, Emily.:yelclap:

Great to hear that little Maia is coming along so well after her grommets!

[kiwibird27]

WOW grommets are amazing, imagine if u had to wait????

Megan doing VERY well, gaining alot of weight and very happy, DADHC are only offering us Physio once every 4 - 6 months, that is ridiculous, They come to the house but I would be happy to go there and join in some group that they don't seem to have. Lucky I can still access the hospital physio!!! Imagine how parents with children who aren't "HIGH RISK" get on, they must find getting physio impossible!!!

Speech therapy is going well though, although she keeps asking me what time is Megan the hungriest - doesn't seem to get the whole continuous feeds and not hungry thing!!!! And the whole Megan doesn;'t eat, she just licks thing!!!

Went to the eye clinic and Megan has mild Myopia and is short sighted - no glasses, yay!!! Didn't need them as well as hearing aids!!!

We increased her reflux medication and it seems to have curbed the vomiting slightly??!! We'll see how long it lasts for.

Glad to hear evryone is doing well

[SweetDreams]

Can I join in? My daughter is just over 9mths now and has recently been diagnosed with Incontinentia Pigmenti. She was misdiagnosed as having eczema at birth and the only reason the proper diagnosis was made is because the retina in one of her eyes has detached and we've been told it's not fixable (although would've been if she'd had a proper diagnosis at birth).

We are supposed to be seeing a geneticist in the next month or so when DD has an EUA to make sure there aren't any more problems. They're pretty sure I have it as well (also misdiagnosed as eczema at birth).

Having not seen a geneticist we're unsure as to whether my mother also has IP or whether it was a spontaneous mutation at my conception. It seems likely to have been inherited as my grandmother's sister has passed on the Fragile X gene (not sure what it's called) and her grandson has it. I'm wondering if there's a link there (apart from them both being dominant x-linked condition).

From what I understand I have a 50/50 chance of having a daughter with/without IP. 99.99999% chance of miscarrying male with IP and 100% chance male carried to term (with no severe conditions) doesn't have IP.

A lot to take in in the space of 3 days I can tell you but we're getting there (ups and downs fluctuate 1/2 hourly!).

[kiwibird27]

Oh no welcome though!!! She was born on my birthday. Can u tell me more about the disorder?? Whats the long term prognosis??? Would assume it's a recessive gene therefore needing 2 faulty genes from both sided unless it's spontaneous??!!

[SweetDreams]

No it's a dominant x-linked condition that is passed down the maternal line so only needs to have my abnormal X copied to cause it (although can also be a spontaneous mutation at conception). They diagnosed me as well!!!!! You can imagine what I thought after having common garden eczema for 26 years!

If she'd (and I) had proper diagnosis they would have been monitoring eyesight, teeth, skin etc from birth.

We are lucky as long term prognosis is a normal life (albeit with sight loss)... it's not life threatening/limiting but it will affect her when she decides she wants to have children and now we know we are having to see a geneticist about it.

Basically this is what I understand my conception/birth options now are (having gone from boring low risk pregnancy...)

1) I conceive a girl - 50/50 chance she has IP
2) I conceive a boy with IP - miscarriage in utero... or in the rare case male baby survives pregnancy, a severely disabled baby - something about the gene is necessary to survival in males (they need a normal X to survive).
3) I conceive a boy without IP - no IP and is not passed on.

[gremily]

:wave: Sweetdreams.

You should have a chat with Mummyof5 as they've been having tests done re fragile x syndrome.

Actually I have a Q:

After reading through Sweetdreams posts and Mummof5 posts I have no idea what fragile x syndrome is. Is it just saying the child has a syndrome (any syndrome) coming from the X gene (mother)? Or is Fragile X an actual syndrome itself? Does that make sense?!

[MamaRabbit]

Hi everyone,

Kiwibird - we tried going down the DADHC path when the hospital told us it was time to "get out into the community services"! We wanted more sessions so we approached Lifestart Early Intervention program. Unfortunately we have to pay for this service as they only receive limited government funding but we are guaranteed at least 1 small group session per week with 1 individual session per fortnight and they also run a playgroup (open to anyone) every week so we potentially have 3 sessions per week if we want it, http://www.csnsw.org.au/ecms/home/pages/common/show-story.cfm?story_id=5929[/url] can help in finding services around NSW, they must have similar info-lines around the country.

Sweet Dreams - my son has a different condition to your DD, and it is very rare, the info given to us said that most boys don't survive in the womb, and if they do they are severely disabled and retarded. I like to think there is exception to every rule as Charlie certainly has some issues with his development, but he is very switched on and motivated to learn and he brings us so much joy. I don't see him as disabled or retarded. I'm preparing myself for him to one day have some sort of label like this put on him but for now he is still learning and communicates with us in his own way, he makes eye contact, giggles, enjoys playing with his sister, loves music etc. I have met 2 other families who have boys with the same condition and they too are thriving (albeit with development delays) but not to the severity the case studies have suggested. I too was terrified of having a second child, we were having genetic testing when I 6 months pregnant with my 2nd. Thankfully she turned out fine and is proving to be a great friend to Charlie.

I hope all goes well with your various testing and your little one is happy.

[SweetDreams]

After reading through Sweetdreams posts and Mummof5 posts I have no idea what fragile x syndrome is. Is it just saying the child has a syndrome (any syndrome) coming from the X gene (mother)? Or is Fragile X an actual syndrome itself? Does that make sense?!

They're both X chromosome disorders but Fragile X is one and Incontinentia Pigmenti is another.

Not the best site but wikipedia has some info on Incontinentia Pigmenti (http://en.wikipedia.org/wiki/Incontinentia_pigmenti) and also Fragile X (http://en.wikipedia.org/wiki/Fragile_X). They also have info in general under Chromosome X (http://en.wikipedia.org/wiki/Chromosome_X_%28human%29).

Hope that helps!

[mummyof5]

Hello everyone, been busy in here...
Sweetdreams, I am in the process of beng tested as a carrier for fragile x, so can understand your feelingsof finding out about something you never knew was in you until you have children, we tested my DS 2 for it as suggested when we had him tested for autism, however he came back "normal" with a result of 28, but my youngest daughter came back testing as a carrier, so we are doing the tracking thing now looking for where it came from, and went too...IYKWIM. I am also now thinking of asking them to check him for mosaic fragile x as he has so many of the characteristics and seems strange that he comes from a family where it is carried, but doesn't have it?

Em, fragile x is it's own syndrome, and is so called because when you look at a frgile xer's x chromosome, there is a skinny little stumpy end, looks like it will snap off, hence the name. It is caused by an increase in the FMR-1 gene, which to cut a long story short, causes the gene to not work. A normal amount of protein repeats (which make up the FMR-1 gene) is roughly between 4 and 54, then a pre mutation, or carrier has up to 200 (think Bronte has approx 78), and after 200 you have fragile x syndrome and anyone of the asociated problems. Needless to say, boys are more affected as they only have one x chromosome where as women have 2.
I could go on and on, but won't bore you with anymore details:D .

Kiwibird, great to hear Megan is putting on weight. Is there any reason why she is doing speech already? Not sure how old she is exactly, but seems young to have started, is it only because of her feeding issues? Do kids with her probs usualy have trouble talking?
Yay, she dosn't need glasses, there are a pain in the butt...Daddy accidently snapped the arm of Jocks on the weekend, so now we are running around with sticky tape on them:o . Looks like time for that 2nd pair I keep threatening to get!
Good to hear everyone is going along well, take care all, and I'll stop :ecomcity: now...

[SweetDreams]

Kylie: Hope it proceeds quickly for you and you get answers soon.

I agree about there being exceptions to every rule... not all cases are the same and I'm glad you have such a happy little boy!

When I was first told it sounded almost as if I "couldn't" have any more children and I was really upset... with further reading I have calmed down and gave myself a bit of a "clue by four" as in duh what's wrong with you twit?! So I'm feeling a bit more positive... I think it was just because it all happened in the space of a few days.

She's our beautiful girl no matter what :)

Susan :)

[kiwibird27]

Mummyof5, She is 9 months ols, because she doesn't drink or eat she needs help to ensure she continuous to suck and her oral motor skills don't deteriorate too much!!! She has had a speechy since she was 4 weeks old, also helps us to ensure she still likes her dummy so when we can finally feed her she will still know how to swallow!!!

Rabbit and Poppet - Thanks i will give them a call, don't mind paying if u get what your child needs.


Glad to hear everyone is okay!!!

[gremily]

Thanks Kylie. That kind of made it easier to understand!


Maia had her post-op appt with the ENT today. Went great (all 3 mins of it!). The tubes looked great. He also said her ears were some of the goopiest (my word not his!) he'd seen so it was no wonder she could barely hear.

Luckily we weren't billed for it:yelclap: . DF said if we had to pay for that 3 mins, no matter how nice the Dr is, he would of breathed fire:D

We've now just got to organise another hearing test with the audiologist to check her hearing again. Then we'll have another appt with the ENT in 3 mths to double check how the tubes are going.

[MamaRabbit]

Hi Susan, I know it's overwhelming when you get all these stats. I only found out about the whole boys usually not surviving in the womb after Charlie was diagnosed - had I known my child could possibly have a condition of such severity I probably would have thought twice about falling pregnant.....but in hindsight and seeing how he is, and how he is developing I'm glad I didn't have this info as he is just beautiful adn thankfully an exception to our rule :)

As for Sophie, well I was already several months pregnant when we were offered the genetic testing. In fact I think we got the results a fortnight before she was born so there was not much we could do about it anyway. As it turned out all was well.

Funny isn't it, most people just fall pregnant and have babies with no thought. It's quite amazing just how much planning and research needs to go into some of our lives. We are happy with our 2 though, so no more for us.

Thanks also for everyone's support on this site, I've actually found more information on here, and met more people in a similar boat, than I have anywhere else.

[gremily]

Funny isn't it, most people just fall pregnant and have babies with no thought. It's quite amazing just how much planning and research needs to go into some of our lives. We are happy with our 2 though, so no more for us.

It is a interesting thought. I find it amazing that most ppl don't realise 1 in 4 pregnancies ends in miscarriage. I certainly didn't until I mc'ed in '05.

We didn't have extensive tests while preg with Maia, had no reason to. All I had were my 1st and 2nd ultrasounds and they came back A-Ok. I often wonder if there was something they could have picked up back then, or if it was later in the pregnancy that a problem occurred.

ETA: I sometimes wonder whether we'll have another bub. Couldn't atm, no room, no money! Plus Maia's birth is still very vivid in the severly painfull part of my brain! But after having Maia I find myself thinking about the "What if's?" of another child. I didn't have any of that while preg with the girls, no "what if's" ever crossed my mind.

For those of you who have had children after having a child with a disability, could you tell me why you decided to have more children, were you concerned they too would have a disability? Did you have tests done during your subsequent pregnancy/ies to find out if they had a disability? Or were you fine with however your beautiful creation was?

I've been thinking about this for awhile now and would just like some honest opinions :)

[MamaRabbit]

Top question Gremily :thumbsup: I'd love to hear some stories about this one.

1 in 4 is amazing isn't it...I had never known anyone who miscarried or had children with disabilities before I had my children, but now they have all come out of the woodwork and it seems loads of people I know have experienced something either first hand or within their family. I have found people sharing their story with me now that I know what they are going through.

We wanted a 2nd child quite soon after Charlie (they are around 15 months apart) so he had a friend and someone to learn from and just enjoy his days with really. We have great fun together but it's not quite the same as a little brother or sister.

We were told in the early days that Charlie's condition was most likely "just one of those things" they couldn't really tell us what the future held but suggested it was likely he would have development delays - there wasn't much rhyme or reason to any of it a nd we still have no clue just how serious his disability will be in the future. I also wonder whether they could have picked something up in an extra scan, but then what would I have done if I was told of a problem?? I really don't know. Regardless, Charlie is here now, he has troubles but what a happy angel he is and Sophie is turning out to be a great little friend and helper so we are really pleased about that. The pair of them, along with hubby have really made me a better person, we simply got the "road less travelled"....isn't that a poem?

Because Charlie's condition was apparently quite random (and rare), there wasn't a need for extra testing. I had the same standard pregnancy with the same standard scans. We didn't do a thing different. Naturally I had moments of anxiety but I also managed to find some peace with it all. Perhaps I just knew that I would love the child regardless. We didn't know any different as Charlie was our first so his troubles are just normal to us.

[gremily]

Thanks Elle:)

Before I miscarried the only person I really knew who had had multi miscarriages was my auntie (IVF for 10 yrs I think before having her son, then another son naturally!).
When I miscarried though it was like this secret women's treasure chest was opened, and I had women left right and centre telling me their own stories. It was truely amazing.

[kiwibird27]

I.m interested in hearing this one too!!!! Although we love Megan it would be nice to experience a "normal" child, after all we have been through with her it should be a breeze. We are still waiting for DH and my genetic tests to come back to confirm the distribution of the faulty genes. The they can organise all the pre-natal testing we will need. They can tell us by 13 weeks if the unborn baby has it. Would be rough though if we had to abort a baby??!!

Gremily.I can't imagine what thats like!!! I know what u mean about people coming out of the woodwork, I never knew how many children are out therewith special needs until we had Megan

[mummyof5]

I know what you mean ladies about never stopping to think about anything going wrong until you have a child with a disability.
I had one ultrasound with Jock, HB with same midwife who was there for his older sister, she even wrote "beautiful baby boy" in the notes of his yellow book. I was already about 10 weeks pregnant with Bronte when the idea of a genetic or metabolic condition was first suggested to us....could've knocked me over with a feather....up till that point we thought it was some kind of absorbtion issue that would be treatable, then he would start to grow and all would be good! How things change...
Since we didn't have a clue what Jock's diagnosis was, we couldn't do any testing on Bronte anyway, but I remember being at the geneticists office at Monash and him trying to ask if I was planning to terminate without offending me, as he was worried that it was getting so far along in my pregnancy and we had no answers...well, she's 2 and a bit and still no answers!!! We did take her to the peads at 4 days to have her looked at, more concerned about the growth issues at that point, and the health of her lungs, but at 9 pounds 8 ounces, she was fine and her delays didn't become apparent until she was older obviously.
We are talking about going again, :o I know we are probably mad, and it will involve IVF as he has had the snip (funnily enough that had nothing to do with Jock's probs and plenty to do with our relationship issues at the time). You can test prenatally for fragile x if you have IVF, but not sure about an unbalanced translocation yet. First we will try and get Jock's micro array test results so we can see what we are dealing with...geneticist doesn't seem to think that having another it woud have any more chance of having problems even though the last 2 are the only ones who appear to be affected by an unbalanced translocation...then we also have to think about how we find the $3000-$5000 we will be out of pocket for the IVF (can cost up to $2000 for the prenatal test I've heard), and work that around Craig's sea postings and the fact that I am not geting any younger, and the longer we leave it, the less chance of success because of the amout of time from his vasectomy - the best results are likely if we do it before the end of this year...oh and did I mention I think I might be starting peri menopause????
:ecomcity: it's enough to do your head in.....but I just can't get the idea of another little one out of my brain!

[MamaRabbit]

WOW Mummyof5 sounds like you really were born to be a mum! Talk about keeping busy, aside from all the kiddies you have alot on your plate with the testing etc before you even begin IVF, not to mention the cost of it and the fact DH is away alot. Life is what you make of it isn't it, sounds like you take all this in your stride. I salute you, it's a great way to live life.

Kiwibird, having Sophie is an absolute breeze. Charlie is very dependent on me, at 2 he is not yet walking or crawling, in fact he only achieved sitting recently and even this is a little unreliable. He needs my help with feeding, playing, everything really. He plays with Sophie but I try to provide him with more challenging play not just bashing blocks all the time. He is showing promise and determination to achieve these things, and now that we have up'd the anti on his therapy sessions I think he'll make good progress this year. Sophie on the other hand at just 10 months is crawling, standing, cruising around the furniture, feeds herself, follows me when I ask - it truly is incredible, like being a mum for the first time. In some ways I think it was easier on us having Charlie's troubles first as we didn't know any different, and even now his way of life is the norm for us. Sophie fits in really well with our way of life and doesn't suffer at all with Charlie having extra needs. She comes to physio and playgroup with us, she gets involved with Charlie's play time and speech etc. It really is a dream having the pair of them, as DH says, we have the best of both worlds....they each teach us very different things about life and love.

I'm so looking forward to meeting you all!

[gremily]

Just a quickie as Maia has just woken from her arvo sleep just as I've hopped on here:rolleyes:

Today I finally received Maia's request forms for her skeletal survey and the date for her appointment with Prof Sillence.

Lucky, as DF had booked next Wed off ages ago so we could go and have the xrays done (they told me in January they were sending the forms out. I ended up calling our genetics councillor this week who got on to them, and surprise surprise!).

So Wednesday we're off to have a full skeletal survey done. We haven't had xrays done since she was at least maybe 6 mths old. It'll be interesting to see how she goes, whether she'll stay still long enough!

Our appt with the Prof is May 15th - still a while a way, but at least we know when it actually is now. No doubt it'll come quickly.

Okay, Maia's wondering where I am! Will let you know how we go next week:fingerscrossed:

[mummyof5]

Oh, gremily, that's good, another thing that might shed some light on what is going on with Maia....I'll be thinking of you on Wednesday.

Elle, thanks for the kind words. Some days I think I was born to it, other days I wonder what I was thinking!!!

[MamaRabbit]

Hope all goes well on Wed. I agree with Kylie, it's great to finally explore something that may shed some light...if it doesn't at least you can cross it off the list and explore another avenue.

I can't believe how long appt's take. We have just got a date at the end of May for a long awaited appt after filling in many questionnaires, getting referrals and being tested for "suitability". I also find it fascinating how most of the time these doctors, clinics or tests are not suggested or offered to us. So often one test or treatment is enough to satisfy the system that they have tried, even if answers are not found. I have had to research and research to find this latest path, and after emailing the doctor direct he confirmed he would be interested in seeing us yet still I had to do the whole questionnaire thing.

Aggh well, that's my gripe for the day. I think perseverence will win in the end.

Hope you get some answers :fingerscrossed:

[gremily]

Westmead was great. You can tell they do children's xray's all the time compared to RPA.
Maia was very happy in the waiting room, giggling away. Then we walked into the xray room and she freaked and cried the whole time! Things like that don't really bother me as it needs to be done and it's not like she's going to remember it. But the whole time she cried and cried!
The woman that did them was fantastic. For every xray it was just one photo done as quickly as possible then straight on to the next. I think we were done in 15 minutes.

One of Jason's workmates girlfriends (wow, what a mouthful!) works in the Genetics Research Institute at Westmead so we dropped in on her. She was excited to have us there as we were her 1st visitors in the 8 yrs she's worked there! It's a totally different building unattached to the hospital so it's not like they get too many passersby. It was great, she showed us around, we looked through a microscope at some skin cells which was amazing. This is wear money from Jeans for Genes day goes.

I'm kind of in 2 minds atm. She's studying a particular genetic disorder (which is what she does) and how to cure it, side effects, etc, and to do this they use mice/rats. I was always totally against animal testing years ago and still basically am, but the fact that it is to research disorders and to possibly find a cure is wonderful :yes:

[kiwibird27]

Can u please get her to figure out gene therapy!!!! That would be VERY helpful......THANKS.......Or can she study Megan's condition?????


Glad u got out to Westmead!! Children's hospitals are much better!!! Hope u get the results quick!!!!

[gremily]

I have no idea how they decide what they're going to study. If I did I'd casually bring up in conversation next time we see her (when we're at Westmead in May) re Megan! Actually, there'd be alot I'd love for them to study!
It was nice and rewarding to see where all the money goes from fundraising. It's definitely a worthy cause.:yes:

[mummyof5]

Maybe you could get her to take a look at Jock while she is there??:laughing:
Great that the x-rays are all done. I know what you mean about the total change in behaviour, Jock is terrified of x-ray machines, tries to climb up and over me to get out the door and that is just for the bone aging scan...thankfuly Craig had to do the full body scan when he was younger, as I was pregnant. he screams from inside were enough to almost kill me:crying: .
Elle, what I love is tha half the time it's not the doctors that even suggest a particular kind of service, it's the EI staff or your MCHN or somelike that. If your didn't get tothem, how would you know what else to check out???

[MamaRabbit]

Hi Gremily.....lots of likely candidates for research in here.....add us to the list too please :laughing:

We go to Westmead Childrens for all our appt's - we've been really happy with the way they operate.

[kiwibird27]

When i mentioned gene therapy to my geneticist, he said he only researches things that he believes can be figured out..........Don't u love them, they are always full of such hope....NOT


Megan is getting written up to go in a journal...Thats exciting!! Hope they translate it into common language so I actually know what they are on about!!!

[gremily]

That's pretty cool Kiwibird27! Hopefully you won't need your "How to decipher Dr's mumbo jumbo" dictionary to read it!

[kiwibird27]

We will I am sure!!!! I don't think it will mention Megan's sparkling personality or ability to vomit 30 times in a day and still smile!!!!

[mummyof5]

Can we have Megan's autograph??? So we can say we knew her when...:laughing: :laughing:

[MamaRabbit]

Okay.....apparently my little rabbit now falls into the undiagnosed department. What a rotten day we have had! :crying: As far as I was aware he had been diagnosed with BPNH (for short) - there wasn't alot of info out there so the diagnosis was fairly meaningless to us.....until today's Neuro appt. We were told that the BPNH (heterotopia) was fairly small on the original MRI so they are now saying that was just a red flag for potential problems down the track. Now that we are down the track a little they don't believe it is solely to blame for the development delay and want to find a diagnosis!

So we had a blood test to check for Angelman Syndrome today - this terrifies me. BPNH was a little more unknown which allowed for exceptions to every rule, but there seems to be alot more info on Angelmans and it confirms what was previously the unknown to me. But of course I am jumping the gun here as it may come back negative in which case we then meet with the geneticist for further testing. We've already been tested for Filaman1 which was negative. I know I shouldn't be researching prematurely but I feel so helpless today. The Doc said 50% of cases remain undiagnosed.....but he believes its best to pursue a diagnosis so Angelmans is the first to rule out, then we continue the search if need be after that.

Poor Charlie had blood taken 4 times today! He's in really good spirits now though and managed a good sleep this arvo, I think today upset me far more than it did him.

Oh well.....Let the testing begin.

[mummyof5]

Oh Elle, what a bummer...I know how it feels to think that your child has something and then find out that isn't the reason they are the way they are afterall...I have spent many an hour googling Jock's symptoms and bits of dr language to see if I could work something out.
I know how it feels to watch them have blood test after blood test too...
Here are some :hugs: and :kiss: for you both!!

[MamaRabbit]

Thanks Kylie - he was really brave actually. The 1st jab he gave a whimper, the 2nd he cried but I manage to calm him with a song, the 3rd and 4th he watched the nurses every move, didn't even make a peep and just took it like a soldier.

Okay after hours of research, tears and plain exhaustion I've now decided tomorrow is a new day and it's time to do the whole take each day as it comes bit (time to take my own advice!!)

It's all good. After all, he is still Charlie....no different to who he was yesterday :)

[mummyof5]

Maybe I can get him to show Jock how to be braver...he goes in to panic mode as soon as we walk in to the pathology room - though if I had had as many jabs as him in such a short amount of time, I would be the same I guess!

[gremily]

Maia has a full week coming up.
We have a quick dr's appt on Monday to get an indefinite referral for the bone specialist.
The bone specialist appt is on Tuesday at Westmead. Df has got the day off, and we'll drop in on his workmates girlfriend that works in the Genetics Institute again while we're there.
Wednesday she has her next paed appt. We've had a lot of milestones since her last appt, and I can't wait to tell her. We'll also be bringing up the issue of her eyes - she's had blocked tear ducts since birth, but with everything else that's gone on it's been overlooked. It doesn't help that they are always clear each appt:rolleyes:
Dd1 had a blocked tear duct and had a quick op when she was 9 mths, and it's been clear ever since. However, we'll be mentioning to the paed about the osteopath's offer.

I can't remember if I have already posted about this, but when I did my neck in a few mths ago I saw an osteopath. She thought Maia had Downs (extremely similar facial features, but it's been ruled out) and went on to ask all sorts of Q's, almost concentrating more on Maia than the immense pain I was in:laughing:
Anyway, she offered us 6 mths free treatment for Maia to try and clear her airways and other stuff. She said that blocked airways hinder brain development (recent studies), and for Maia, well anyone really, that's really important.
I only got back to her last week and the offer still stands. She's going to talk to one of her collegues and work out how they will do it. I only then realised, from the email she sent me, that she is actually the President of the Osteopathic Association:eek: ! Very excited at the prospect of it clearing Maia's tear ducts without her having to have an op.


On another note, friends of our have a 6 mth old that is really gorgeous. Df and I talked this morning, about our jealousy (or maybe envy) over her. The fact that she is already putting the phone up to her ear, and Maia is only just doing that. That she is making all these amazing sounds, and again, Maia has only got a small range of sounds (although there's new ones creeping in lately).
It's not a horrible jealousy, it's just the realisation of when they're together, it shows just how far behind in development Maia is. I dunno, it's just something I/we think about every now and then.
Maia's achievements mean so much to us. I just hate that feeling I get when I hear/see younger bubs are reaching their milestones at the "right" time.

Does anyone else look at developmentally normal children (is that the politically correct term;) ) and feel that twinge?

[mummyof5]

Yeah, I know what you are talking about...I have 2 girlfriends who had babies within the week of JOck being born, he's the eldest. Well of course, they are both outgoing beautiful little ladies now, just like my other kids were at four, and I do love them, but find myself just getting a litle irritated when DH tells me stories of what they are up to...(both lots of parents are Navy, so DH sees them a fair bit), and I think that is why. Probably not such a nice thing, but I am only human I guess.
Then again, when Bronte does something that is age appropriate, I am so impressed, cause she seems advanced after Jock...

Great news about Maia seeing the osteopath though, gremily, isn't it. Hopefully she can sort that out for you without any surgery.
We have a couple of appointments coming up too, off to see the orthoptist on Monday then the endocrinolgist at the end of the month - this is the appointment where we start discussing growth tests, so scarry stuff. It's ben recommended we ake him to a podiatrist too, to see if we can do anything about his toe walking, so better pull my finger out and organise that I spose.

Hope your week is a helpfull one, look forward to hearing all about it soon.

[Nowhere]

Souns like you have hre under a great dr thats realyl good LOL at how she was more interested in your DD than you when it was your Appt. just shows everything happens for a reason if you ws not in pain you wouldnt have met her

I know how you feel with compairing your child too others its a hard feeling to discribe isnt it its not jelous in the way that you want there child to be behind as well just that its upsets you that your child is

I get the like that with kenzees size we have friends that have had babies ages after her and with it 3 months they are bigger then her and eating solids act and kenzee seems to get further and further away KWIM

[gremily]

Souns like you have hre under a great dr thats realyl good LOL at how she was more interested in your DD than you when it was your Appt. just shows everything happens for a reason if you ws not in pain you wouldnt have met her

That's what I keep thinking. If I hadn't hurt my neck we would never had seen that osteopath - she was the only one available at short notice. And if df hadn't been able to take me I would have had to have left dd2 with friends. So yeah, everything happens for a reason!

[MamaRabbit]

Hi Gremily, fantastic news about the Osteopath. You just never know when you will be steered down a new path. Fingers crossed you see some results. Anything is worth a shot I reckon!

You mentioned feeling a type of jealosy with other children's development etc....I feel it most days. Sophie turned 1 last week and is moving ahead in leaps and bounds. She is learning something new every day. It seems like it only takes her minutes to copy something I show her. I'm really enjoying every moment but it does bring home just how difficult things are for Charlie. I never compare them but it does take some effort on my part not to let it upset me.

Having said that, I do still get overwhelmed when Charlie does achieve something new, no matter how small. The world seems to stop for a moment while we all make a song and dance about it and really enjoy the moment.

Oh and you asked about how he communicates when he needs to go to the potty....we are nowhere near that stage. Communication is a long way off but we knew how difficult toilet training would be so thought it best to get the wheels in motion, get him used to sitting on there, in time have him understand what he is doing there so when he is in a position to communicate in his own way we may be that one step ahead in putting it all together.

[mummyof5]

How did the bone scan go today, gremily???

[gremily]

Prof Sillence was wonderful. Really liked him. His assistant was fantastic with Maia, she spent the first 1/2 with us getting as much info as possible unti the Prof came in. He kept saying all these loooooooooooooong syndrome names and would break them down saying what each bit meant. Oh, the GP I saw yesterday to get the referral for him said the Prof has written books on genetic syndromes and stuff and his world class:thumbsup:
His first thought when he saw her was something sydrome (:laughing: too many to remember!) but then by looking at her xrays he was able to rule it out. It was some sort of dwarfism syndrome. There was another 4 yr old girl there at the same time as us (one of his patients) and so she gladly came in to see us. Maia was almost taller than her which was amazing, but the similarities in facial features were very close. She was very cute, all smiles!
He's looking into Osteoglophonic Dysplasia - something to do with the bones! We're going to have a bit of a look on the net, keeping in mind that online searching usually comes up with worst case senarios;)
There is a test he's going to look at us doing at Sydney Childrens Randwick, not sure what it was for, but it's the only place in Australia that does it. Had a bit of a down moment coming home as I really want to be able to move back to SA in the next few years (before Tatum hits High School) but for Maia i just don't know whether we would have the same level of treatment as we do here. Sydney just seems to have more treatments/tests available. Oh well, we'll see what happens I guess!
Anyway, had to go have a blood test done for DNA. Also have appointments booked for June and August with the Cardiologist and Opthmologist repectively. Whatever their looking for will confirm/reject the syndromes they are looking at.
So that was our day. Maia fell asleep in my arms walking to the car at 2pm. Shes still asleep now at 3:30pm - soooo tired!!

[SweetDreams]

Sorry for the disappearing act has been a hectic couple of months since I last posted here!


Since we didn't have a clue what Jock's diagnosis was, we couldn't do any testing on Bronte anyway, but I remember being at the geneticists office at Monash and him trying to ask if I was planning to terminate without offending me, as he was worried that it was getting so far along in my pregnancy and we had no answers...well, she's 2 and a bit and still no answers!!!

Lol I dubbed this (jokingly, so I hope no one is offended!!) the "kill the mutant baby" speech. I was 8 weeks at the time I saw the geneticist (same day as S' EUA).


Megan is getting written up to go in a journal...Thats exciting!! Hope they translate it into common language so I actually know what they are on about!!!

How do you know when they're in the journal? Both the paediatric opthamologist and the geneticist asked about putting S in the journal. I'd be interested in seeing it!

Okay. Well, nearly a couple of weeks after S' diagnosis of Incontinentia Pigmenti (after I last posted here) I found out I was pregnant. I'm now coming up for 13 weeks and apart from some bleeding have been doing okay and hopefully things will work out for the best. We don't know what to hope for in this instance. The geneticist spoke to DH and I when S had her EUA and did the verbal dance around the subject of termination. DH didn't get what he meant until I made it a little plainer and then he was horrified! The only concern DH had was if we carried a boy with the disorder. The geneticist said 0% chance (but who knows right!) so that made DH a lot happier. Speaking of amnios the geneticist said that it could only tell us whether the new baby had IP not the severity. So it could be minimal like me or moderate like S or severe. With that sort of outcome we decided the amnio was an unnecessary risk as they couldn't tell us how affected the bub will be (if affected at all) until after birth.

S' EUA went as expected. Can't fix left eye but right is okay. I was reading about the carer's allowance/HCC. Not particularly caring of whether we get the CA (or whether being blind in one eye even qualifies - I'm really not sure) but the HCC would be a big help as it's costing minimum $150-$200 a visit with very little kickback from medicare. She has to go see a dermatologist and I daresay that will be an ongoing appointment. We have to go back to the P.O. in September and if new bubs has IP we'll be there in November as well. Does anyone know if it's worth applying for the CA/HCC? I printed off the form from C/L website but for CA/HCC it doesn't even appear to ask for a Dr's report which was really confusing to me.

The geneticist took some blood from S (got maybe 1ml considering she hadn't been allowed to eat since early hours of the morning and it was then around lunch time!) and said they could test for IP here in Australia but would have to send off to France for some other testing (DNA something or other????).

I haven't had a report from either the Opth. or the Geneticist... is this normal? I have heard nothing apart from what was said to us verbally at the hospital. Is it possible to get more information?

S has some sort of allergy rash at the moment which we're trying to find the source of. Rather concerning given her skin history!

DH finally received a transfer and moved here late April (hence I was without a computer for nearly a month) and we're slowly settling in as S' 1st birthday looms closer!

Susan

[gremily]

We saw a geneticist/bone specialist yesterday and his assistant said it would be about 7 weeks until we got the report as she was going away on her holidays. But usually with our regular geneticist I don't think I usually recieved anything. I think he may send stuff to our paed but I'm not 100% sure on that.
I'd probably ring up and ask for a report.

Re Carer's Payment - have a look at Step 2 - Centrelink info (http://myaccount.centrelink.gov.au/wps/portal/!ut/p/kcxml/04_Sj9SPykssy0xPLMnMz0vM0Y_QjzKLN4g3MnMFSYGZpsb6kW hijggRX4_83FSgeKQ5UMDEy0c_RD_SQz9I31s_QL8gNzSi3NDC EQD50Uy_/delta/base64xml/L0lDVE83b0pKN3VhQ1NZWW9LVVEhL29Gb2dBRUlRaENFTVloQ0 dJUUlTRkNJQWdBR2Nad1dFQVFCZy80QjFpY29uUVZ3R3hPVVRv Szc5WVE3RG1HNFJBLzdfMF80SkwvODA5Mjc4My9vcmlnaW5hbE FjdGlvbi8lMGludGVybmV0JTBpbnRlcm5ldC5uc2YlMGZvcm1z JTBjbGFpbV9mb3Jtc19jYXJlcmNoaWxkLmh0bQ!!#7_0_4JL) There are different medical forms for both the carer's allowance and the carer payment.

[MamaRabbit]

Hi - Carer Allowance definitely has a form the doctor needs to fill in. Carer Payment which is on the same form is income and asset tested, you need to be assessed as having a "severe" disability so I would guess there is a doctors form for that too. I found the easiest was to call C'Link and have them send the pack that way you get everything you need in the one lot rather than trying to figure out what you need to download, it would be a nuisance if you miss something.

Congrats on your pregnancy, I hope you find some peace with the whole situation.

We have only had one lot of genetic testing returned and the Neuro got that report. Nothing was sent onto us, it was all verbal. We are currently awaiting results of more genetic testing....8 weeks have passed and still no word.

[SweetDreams]

Thanks for the information. They sent out a pack ages ago but I dilly dallyed because I was sure that it really applies in S' case... might have said already but really more interested in HCC because the appts are $$$$$$! Will ring up and ask for them to send one out again.

Have an ultrasound tomorrow as I have been bleeding. Trying to maintain hope but it's hard.

[mummyof5]

Oh, I hope the ultrasound shows a healthy littel one in there.:fingerscrossed: .
Ok, as for the health care card, sorry to rain on your parade, but my boy's apointments all cost the same regardless, it only helps out with the cost of meds, now that his asthma seems to be uder control, we rarely use ours. Can't claim any dr's apps or glasses (in 7 months have spent roughly $1000 on glasses alone), hearing tests etc against the card, as far as I am aware, please correct me if I am wrong, ladies:yes: :D . Also any application for carer's allowance needs a doctor's sig, and it gets reviewed every so often, like at 18mths, 3.5 yrs and 4 yrs 8 mths, or something like that anyway...
I did get a letter from my geneticist in Melbourne both times and again up here, but they always take forever to arrive.

Gremily, great to hear the bone scan went ok...did you find out anything useful in your internet searching???

Jock's eyes are going fine, and no new lenses yet. Yay!!

Better go now, the vacuuming beckons...then it's off to early intervention, cause it's Thursday:yes: .

[MamaRabbit]

I must admit, we haven't used our HCC since Charlie came off the meds in January. All our doctors appt's have been via the Children's Hospital Outpatients so we haven't been charged for them. Our GP bulk bills children up to 16, the specialist Paedatrician however costs $300 initial consult with $150 each time thereafter....they don't recognise the HCC at all. Work that one out...a child who see's a doctor, specialist or clinic what feels like every other week and we get hit full freight....rotten if you ask me. Makes it seem like they are in it for the $'s rather than to help people.

[gremily]

We're pretty much the same. We're public with everything except our paed - she was $150 int and $90 followup (although yesterday I noticed it's now gone up to $100). We get a little bit back through medicare. The GP bulk bills.
Maia has an infected ulcer on her vulva and the GP gave us a prescription for some antibiotic cream. I though "YES!!!" I can finally use her HHC! Lo and behold it wasn't on the PBS so full price ($22!).


MO5 - Df did some searching on the net but there is hardly anything on it, and what he did find was describing the name of it and just made it all the more confusing!!
At the paed yesterday she looked it up in a medical search and came up with a few studies. I don't think I mentioned in my other post about the rarity of the disorder. There are only a few cases world wide, with none in Australia :rolleyes: . But, hey, we still don't know if it's actually that yet, we just have to sit and wait.......and wait......and wait!!


My mum arrived from SA last night - she's so excited to see the girls. Both my parents were teachers, so Mum loves to do all naming things with Maia, read books, count, etc. All things I like to do, but get tired of doing after a while!

The paed said we need to really get into the whole repeating words over and over, animal noises etc. We have our next appt when Maia is 2 (August) and if she's not speaking by then we'll get into speech therapy, which is quite close to us and free (thank god!).

The GP and the paed both checked her ears/grommets, and each said they are looking good, with both still in.
Paed noticed the difference in her compared to before the grommets, much more alert.


Oh, and just so you guys know how much you mean to me - I was telling mum about this great group of online mums with SN kids and just how much support they've given me, telling her about a few of the kids, etc. She thought it was great.

Since I first came in here with the thread "Undiagnosed Condition" I hardly expected the support, understanding and, most of all, friendship I have received - thanks:)

[SweetDreams]

Our little bub didn't have a heartbeat at the scan. Have to go to Dr tomorrow and see what he suggests (said curette but didn't have scan results from radiology yet so couldn't send me to hospital).

S is doing okay. Has a rash (they think it's allergy... we're seeing if it's oatmeal - she normally has apple & oatmeal for breakfast).

I have an appt with retina specialist tomorrow regarding IP... $$$$

[Nowhere]

im so sorry Sweet dreams to here that you poor thing i dont know what to say

[mummyof5]

Oh, sweet dreams, :hugs: for you, so sorry bout your sad news...
Good luck with your appointments for the next little while.
Thinking of you.

[mummyof5]

I though "YES!!!" I can finally use her HHC! Lo and behold it wasn't on the PBS so full price ($22!).

Yep, had that happen! sux, doesn't it!!!
MO5 - Df did some searching on the net but there is hardly anything on it, and what he did find was describing the name of it and just made it all the more confusing!!

The only prob with looking stuff up yourself isn't it, sometimes you need a degree to work it all out!:banghead:
My mum arrived from SA last night - she's so excited to see the girls. Both my parents were teachers, so Mum loves to do all naming things with Maia, read books, count, etc. All things I like to do, but get tired of doing after a while!

Great to hear you have your mummy for a visit!! Nice to have someone else do the things you should do for a change, isn't it:D .

We have our next appt when Maia is 2 (August) and if she's not speaking by then we'll get into speech therapy, which is quite close to us and free (thank god!).
Why are you waiting until she is 2?? The earlier the better with speech, why not get in now, or at least put your name down to start asap?? You don't need a referral for speech usually, at least not at the local hospy you shouldn't...

Paed noticed the difference in her compared to before the grommets, much more alert.
Excellent!

Oh, and just so you guys know how much you mean to me - I was telling mum about this great group of online mums with SN kids and just how much support they've given me, telling her about a few of the kids, etc. She thought it was great.

Since I first came in here with the thread "Undiagnosed Condition" I hardly expected the support, understanding and, most of all, friendship I have received - thanks:)

Aww, you are more than welcome, and look what you started....we are up to page 17!! By the way, I am so not computer literate, i just can't make this multi quote, no matter how hard I try.:o

[SweetDreams]

Kylie, sometimes it takes a while for the button to go orange but then it works okay for me (multi quotes).

S went to see the dermatologist the other day and is being referred to the paediatrician in a week or so and we're waiting to hear about the paediatric neurologist.

I'm trying to lose weight (for the zillionth time!). lol Wish me luck!

Hope everyone else is going well.

[mummyof5]

Kylie, sometimes it takes a while for the button to go orange but then it works okay for me (multi quotes).

S went to see the dermatologist the other day and is being referred to the paediatrician in a week or so and we're waiting to hear about the paediatric neurologist.

I'm trying to lose weight (for the zillionth time!). lol Wish me luck!
Hope everyone else is going well.

Aren't we all...:o

:fingerscrossed: for your appointments!

[SweetDreams]

Yay Sabrina is 1 today yippee Happy Birthday my darling girl!!!!

[gremily]

Yay Sabrina is 1 today yippee Happy Birthday my darling girl!!!!

happybirthday Sabrina!

[gremily]

Geez, it's been awhile since I've posted about Maia! So much to tell.... it's going to take awhile!


Where to start? We saw The Prof (as his assistant calls him!! The world class geneticist/bone specialist at Westmead), which I think I posted about last time. His assistant called last week to update me with what's been happening. Because the syndrome they are wanting to test Maia for (Osteoglophonic Dysplasia) is so rare (no one in Aust has it) they are having trouble finding someone who can actually do the test! They have a lab that can look for mutations in the 1 gene that is known to be associated which is a start. They're also going to test for subtle changes at the ends of the chromosomes. If she was 8-10 years old they could do an xray that would show the changes :rolleyes:

Anyway, if the test comes up negative then we'll wait a year and then go back and see him. Her facial features may have changed enough in that time for him to go "Ah Haaa!!" :D

We've had her cardiologist appt, which was good except that she cried the whole time even though it was just an ultrasound of her heart. She's begun to hate small rooms, dr's and things like that. Gets very clingy, worried, etc.
The ultrasound didn't show anything major, no holes, etc, but one of her ventricles is a bit thin.

We have her ophthalmologist appt on Monday. It's at least a 3 hour appt depending on what they decide to do. Her tear ducts have been shocking of late (they've been blocked since birth, but it's kind of been overlooked. Or when we've talked about it her eyes have been clear!). Last week she woke in the morning and her eyes were glued shut. I'll pretty much be pushing for the ophth to do something about it.


A couple of weeks ago we started Speech Therapy!!:smiliedance: I rang the CAYHS re Tatum and as I knew that's where our paed was going to send Maia for ST I just thought I'd ask what they did, etc. The lady I spoke to then asked if I just wanted her to do a referral and get her in! I really had no intentions of that happening, I didn't realise I could do that! So, 2 weeks later we had our first appt. I was expecting such a longer wait, after hearing of some people waiting months to get in to a ST. If I'd waited to see the paed (end of Aug) we still wouldn't be in yet, so I'm really glad this has happened.

Lots of repeating, she's already beginning to understand a few more words (UP, Outside, Bath, Salus (our dog), birds, where and a few more) and is recognising and remembering really well. Her fav thing at the ST is the bubbles. Last week (her 2nd appt) she remembered the bubbles and continually wanted Katy (the ST) to blow them!

This week she's started mimicking a bird with her hand and makes a eh eh noise whenever she hears/sees a bird. It's surprised me as it's what I do to her, except I say "Tweet tweet"!!


I can't remember if I said last time that she's finally walking! She's becoming more confident, can go up and down stairs (much to my horror!!) by herself, and is beginning to get a little faster. It's wonderful to see her becoming more independent :)


AAAANNNNNDD.......... My little girl will be 2 on Tuesday!!!!!!!


I've probably left a few things out, but I think that's a long enough post! Hope everyone and your families are well.

[Nowhere]

congrats on the walking, clever little girl,

Good luck with the genetasist hopefuly he will give you some answers

kenzee is seeing the genetatsist in october, she has never been before so will be interesting to see what he has to say about her, i am hopeing not to here well i have nver come across a baby like her before because i am sick of hearing it

[gremily]

kenzee is seeing the genetatsist in october, she has never been before so will be interesting to see what he has to say about her, i am hopeing not to here well i have nver come across a baby like her before because i am sick of hearing it

lol It gets a bit that way sometimes doesn't it?! I'm kind of past it atm, like water off a ducks back. I know M looks/is different but to us she's just normal, little Maia!

The geneticists we've seen have both been fantastic. It was the 1st paed we saw that was a jerk, always commenting on how "Interesting" Maia looked everytime we saw him, he never remembered her and would make me feel soooo hurt. Our paed now is wonderful :)

Btw - I hope Mikenzees appt with the geneticist goes well :)

[Nowhere]

we get the opisite kenzee doesnt look any diferent to other babies she just small some of her insides dont work properly i think she is perfect but

[ReecesMum]

Hi there,
Just read your most recent post and my boy is 17 months at this present time and he does not walk, crawl or say any words or even express himself by kissing or cuddling the most we get is giggles,laughs and babbling.He does look normal from the outside which i am afraid may affect him later in life an example of this is that some special kids may cast him out because he is not like them.I know its a weird way of looking at it and i should be glad he looks normal but it can and may happen.

His weight, head circumference & length are all in the <<3rd percentile.From the start he has had a variety of tests including chromosone tests,lumber puntures,pituatry tests,hearing test,mri's,ultrasounds,eeg's,eye tests etc.....
His:
Cognitive scale is at approx less than one month of age,
Receptive language scale at approx 2-3 months,
Expressive language scale is at approx 6 months,
Fine motor scale is at approx less than 1 month,
Gross motor scale is approx 2 months.

He suffers from a various amount of problems including the absence of the septum pellucidum which is a part of the brain that controls mainly sight.Due to this he has Septo optic dysplasia which is an under developed optic nerve.Dotors can only tell me his sight will never be 100%.It will be between 2-70%.
He also suffers from severe brain damage due to lack of blood and oxygen to the brain during labour.His pituatry gland is only producing average amounts of growth hormones but doctors say it should be enough for him to grow even though his head has only grown a few cms since birth,he is also under weight for his age and height is average.

Finally doctors have put it under the classification of cerebral palsy and these words were pretty scary for me to hear.So i can relate to how you felt.Although my partner made a good point when telling me that "Ok the doctors say cerebral palsy but when you think about it Reece(Our son) is still the same as before they classed is as that!" Good point but it didn't make me feel any better.Knowing that your child has problems is one thing but when it finally has a name to it,it becomes a different matter altogether.

He is constantly undergoing tests regularly at westmead childrens hospital.At the moment he has been really constipated for the past few months to the extent where it causes slight bleeding.I have tried everthing from diet change,prunes and coloxyl drops whith still no change.My doctor seems to thing it could be to do with the thyroid not regulating the bowels properly and thi could be due to the damage in the brain so he will need further testing with this.

Everyday is a blessing for me as he has already beat the odds but i don't count my chickens before they hatch as most doctors are surprised he has come so far.With my boy his life is a big ? (question mark) as anything can happen.People are always telling me don't worry he will be alright but will they ever truly understand the severity of his problems.Basically if his head doesn't grow it will have no room for his brain and that means he will not survive.I try my best to stay positve but it is easier said than done.I have hope and faith but if i ignore the negatives i think if something bad does happens it will make it harder for me to try to cope.I already feel it in my heart that if i lose him my life will stop.

The most positive thing is he is here and he is happy.It has been tough so far and only time will tell what lies in his future.

ReecesMum.

[Foxymoron]

(((((((((hugs))))))))) to you and your beautiful boy.

[gremily]

We had the ophthalmologist appt on Monday.

Great vision, which we kind of thought she had (she tracks things pretty well).

When she looks up her eyes roll out to the sides, which the dr said was extremely common with children with flat cranio-facial features such as M's. However, it's nothing to really worry about. As she gets older it'll become less noticeable.

They had to put some drops in to dilate the pupils, and OMG did they dilate!! You should have seen all the kids in the play room... they all looked like they'd had a massive night at a rave popping pills or something:laughing: You couldn't see any colour in M's eyes at all, just these massive black spots!

But.... the BEST news...... we are finally on the waiting list for tear duct surgery :smiliedance: After 2 years of mucky eyes, glued down lashes, and constant wiping!

Success rate is usually 70%, but in M's case, because of her cranio-facial features, they don't know whether inside where they need to probe will be any different. Which means her chances are going to obviously be less. But we're optimistic :) There are also other avenues to explore if the duct probe is unsuccessful.

Funny thing is T had the same op on her right eye when she was 9 mths. Lucky for her it was a success and we often forget that she even had it done.


Plus, on Tuesday it was my little M's 2nd birthday :smiliedance:

[Nowhere]

thats great news that her vision is good well done one less thing to worry about

good luck with the tear surgery, hope it all goes well

When do you see genetics next are they any closer on finding a DX or still up in the air

[Can I?]

Happy Birthday Miss Maia!! Hope you have a wonderful day beautiful girl.:party:

[gremily]

thats great news that her vision is good well done one less thing to worry about

good luck with the tear surgery, hope it all goes well

When do you see genetics next are they any closer on finding a DX or still up in the air

Have absolutely no idea! They're looking at this Osteoglophic Dysplasia, but if that comes back negative then we'll wait a year before going back to see The Prof. Her facial features will have changed by then so he might be able to go "Aha! She has xxx syndrome!" :laughing:
The Osteo one can actually be diagnosed by xray when they are 8-10 years old. That's still at least 6 years away for M though!


Happy Birthday Miss Maia!! Hope you have a wonderful day beautiful girl.:party:

Thanks :) It was really nice, got her a beautiful sandpit that has now had soooo much play and fun in. Plus, the added extra of we seem to have a lot of sand throughout the house :rolleyes: