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countrygal
30-03-2007, 16:26
Hi everyone,
I posted a reply in serious health Issues about my DD.
If anyone is interested in reading it I have posted it in the hypotonia topic.
Unless someone here can tell me how I can cut and paste my story to place it here because it was to long for me to re write in this thread and I would like to share my experience with others here.

Thanks
JO

Hi everyone,
Firstly can I just say that hypotonia isnt actually a diagnosis. It is a condition.You can have syndromes and other diagnosed conditions and the things related to these are symptoms or conditions.
My DD whilst having a routine check at 7mths old was found to have hypotonia. At first the peaditrician thought she may have muscular dystrophy. She had an MRI at 13mths old which showed to be normal. She also had an EEG at about 2yrs old which also showed normal.
My DD didnt sit up unsupported until she was at least 18mths old she didnt crawl on all fours until she was 3. We have had extensive genetic testing and bloods,urine for lots of different syndromes and everything has come back negative or normal.My DD is going to be 5 in June and she is undiagnosed.She has Global Development Delay.She also has possibly Epilepsy and she has an Intellectual Disability.
I have seen a few different peads and they all have had this wait and see game as far as my DD goes. They didnt know if she had a muscular related problem or a neurological one.
They think that her disabiltes are because of a neurological problem they just cant find what it is. She is an enigma to them.
Forward to today. She doesnt talk but makes lots of noises and sounds and we are using PECs which is going great guns.
She doesnt walk but can stand for about 3 seconds on her own. She wants to walk but it is such a struggle to put everything in motion. She can climb up on anything and she can pull to stand but thats about it. She now has a Rifton gait Pacer walker that was kindly donated to us through a local Lions club which she loves using both at home and at Kindy. She wears her AFOs (ankle foot orthotics) whilst using the walker. She can cruise holding on to the lounge.
To look at her you would just see a normal looking and cheeky girl. Sometimes because she has the low muscle tone in her face she often looks as if she has just woken up or is very tired.
Her hypotonia has been assessed as moderate to severe.
We get services through Disabilites SA and we see a OT,speech and physio.
My DD still drinks out of a babies bottle we are trying a sipper cup but it has been a very slow process.
She still needs help with feeding but she eats finger food style and she eats anything.She loves her food.
She is still in nappies as well and TT looks to be a long way off still.
She needs help getting into the bath and out and I do quite alot of lifting getting her in and out and up and down from things.
The scary part now is that in July she starts school. She will be going to a Special School.

The best thing we can do with our kids is to give them lots of love and support. Dont ever think you are not doing enough for them because you are. My DD has certainly turned my world upside but she has made me a better person as well.
My phyiso sees alot of kids with hypotonia and with Global development delay and yes she said most of them are walking and talking. She thinks in our case that my DD disabilty is somehow realted to a neuro problem.

Thanks for taking the time to read my ramblings.
Goodluck with your children.

Cheers
JO

Chickadee
30-03-2007, 16:30
Here you go :)

mummyof5
30-03-2007, 16:50
Hi Jo,
I too am the mum of an "enigma", there are a few of us actually - check out the undiagnosed condition thread. My son has hypotonia as a symptom, though he is now walking and talking, he also has lots of other issues, hence the ? surrounding him.
He has just this term started preschool and loves it, thankfully the staff are wonderful with him. He is supposed to start school next year, but I will keep him home until he is 6, so he will get another year of preschool. The thought of him going to school (especially as it will probably be a mainstream school with an aid) frightens the whatsies out of me:eek: .
So I understand completely how you feel.
We all love him so much though, the older kids are so pleased when he learns something new and does well at preschool. Though there are the odd days when I could give him away:laughing: .
Look forward to hearing more from you in these threads....thanks for sharing your story with us.:yes:

MamaRabbit
30-03-2007, 20:14
Hi Jo, I replied to your thread in Hypertonia thread. Nice to hear from you :wave:

countrygal
30-03-2007, 20:15
Thanks Martha,
I gather you waved a magic wand and was able to post my story in here for others to see. I dont know how you did it but thanks. All this computer technology gets to me from time to time.

Thanks
JO

kiwibird27
31-03-2007, 07:04
Have u been checked for Congenital Disorder of Glycosalation????It can be tested for on blood, and is pretty straight forward!!! My daughter has it and although when u read her story it's totally different to yours, it's a hugely variable condition, I know of children with only one symptom, or them all. There is a 14 year old in Melbourne who has only just been diagnosed who has similar symptoms to you!!! Hypertonia, seizures, neurological imparement, global developmental delay, are all symptoms. I might be grasping at straws but it is possible. Pm me if u want further details. Will find the website.

http://www.cdgs.com/

When u look at the website, please don't panic, Many of the stories are from severe cases, the first 3 years are the worst with this disorder, so your over that!!!!! I will PM you contact details for people your paeds to get in contact with

countrygal
31-03-2007, 13:25
Thanks Kiwibird27 for that information. I went and pulled out all the testing the genetisist done on my DD.
She was tested for the following things:
Prader-willi syndrome
Angelman Syndrome
Smith-Magenis syndrome
Fragile X
Smith-Lemli-Opitz syndrome

I also found a comment area which read my DD plasma transferrin isoelectric focusing pattern is normal making it highly unlikely that she is affected by congenital disorder of glycosylation type I . However there is an extremely wide spectrum of CDG and if clinical suspicion of the disorder still remains this should be discussed further with the laboratory.

The tests they carried out on DD were subtelomere MLPA,22q MLPA,FISH and molecular testing and also 7 dehydrocholesterol and transferrin isoforms.

The genetist man I saw was the Head of the Dept of Genetics at the Adelaide Womens and Childrens hospital.

As he wrote in a letter to me all of my DD tests gave a nornal result. at this stage they remain without an explanation for my DD's developmental delay.


I dont think I mentioned in my original post that she had an absence seizure out of the blue July last year that lasted 30mins. She is on epilem at the moment and we havent witness any other seizure activity as yet.
When an EEG was performed on my DD the result came back with sharp discharges on the left occipital part of her brain and spiking on the right occipital part of her brain.
This has been the only result we have had for all the testing we have had done that has actually come back with a finding instead of a negative or normal result.

For the time being everything has come to a standstill and there is nothing planned as far as what comes next for us.

Its been a long, hard and bloody frustrating journey for me,my DH and also the effect it has on my other 2 kids who are 9 and 7.

Each day I just make sure I just keep putting one foot in front of the other.

Thanks
JO

MamaRabbit
31-03-2007, 16:03
Hi Jo, sounds like you are doing a wonderful job - managing to put one foot in front of the other can be hard at times, but for every low, there is usually a high (or at least a peak of some sort) :)

I'm sure your doc's and neuro's have been very thorough but I wonder if there is something really quite tiny or miniscule that hasn't been obvious to date. It's probably a long shot but I say it because my son was diagnosed with Bilateral Periventricular Nodular Heterotopia (how's that for a mouthful). A seizure is what sparked off the investigation (he hasn't had one for 2 years now and is currently med free) - his symptoms and development sounds very similar to your DD. Anyway in my DS case the pesky nodules are really tiny and the neuro had to question whether they were there it all. It got sent away for a second analysis. Not saying your DD has the same thing, I'm sure there are dozens of conditions that cause similar disabilities it's just a matter of finding the right specialist who see's or tests for the right things. There is no text book explanation for each individual brain.

Does anyone happen to watch the TV series "House:......oh my goodness, I saw my first episode this week and I am absolutely hooked. It is about a Neurologist who is just brilliant and the stories are quite amazing. I know it is TV, but having lived in my shoes the last 2 years, life is more like TV than I realised! I wish there was a Neuro just like this Dr House who would examine my DS! He can solve anything!!

kiwibird27
31-03-2007, 16:07
Sounds like its as under control as it could be!!! The transferrin isoforms are the cdg first indicator test!!!! Good luck??!!

gremily
31-03-2007, 20:03
Does anyone happen to watch the TV series "House:......oh my goodness, I saw my first episode this week and I am absolutely hooked. It is about a Neurologist who is just brilliant and the stories are quite amazing. I know it is TV, but having lived in my shoes the last 2 years, life is more like TV than I realised! I wish there was a Neuro just like this Dr House who would examine my DS! He can solve anything!!

LOL! TV dr's always solve everything!! And in 1 hour mind you:laughing:

mummyof5
01-04-2007, 10:13
Yeah, if there really was a Dr House, I think we would all be lining up to see him!!:laughing:

MamaRabbit
01-04-2007, 11:34
Alright...alright Ladies....we can all dream can't we ;) yes I did feel foolish when I typed that, but after a week of Dr's appt's, tests and the like, it made for one rather gloomy mummy....enter Dr House Valentine . I don't normally watch medical dramas but seeings as Neurology had unexpectedly become my world I was blown away by him.....what's the other fella on TV, I think they call him Dr McDreamy or something silly. Give me a brilliant, know-all Neuro any day of the week.

Joking aside, surely somewhere on this planet there is a passionate, puzzle solving Dr who would just thrive on half our cases. Most of our doctors are too busy for puzzles.

mummyof5
01-04-2007, 18:08
Joking aside, surely somewhere on this planet there is a passionate, puzzle solving Dr who would just thrive on half our cases. Most of our doctors are too busy for puzzles.

Maybe one of us needs to go to uni and become a puzzle solving Dr...:p
Actually, the geneticist we have now is trying realy hard, I just wish it wasn't such a long drawn out process.