Really Need Some Advice- Possible Downs Baby For My BF

[SalTheGal]

My BF is 31wks pregnant... and is concerned she maybe having a downs baby, and I am hoping for some advice, information to help support her with.

At her 12wk Nuchal Scan the risks came back quite high for Downs... she was reccomended to have an Amnio, but she decided against it- firstly she didn't want to take the risk of miscarriage, secondly she would never terminate anyway, so she didn't see the point.

At her 20wk ultrasound they could not find a nasal bone...

Her (and mine) understanding is that given the missing (or very short) nasal bone, it is not highly likely that her little one will be born with Down Syndrome...

Does this sound correct?

She is my best friend, and I love her dearly... but she is quite naive, and is not into research and arming herself with information. She doesn't read, doesn't really spend time on the net, and just seems to be happy to go with the flow....

Of course she is worried that something might be wrong, but she doesn't seem to be educating herself to prepare for the outcome that may be the worst possible scenario.

I want to try and support her as much as I can... and if the absence of a nasal bone is pretty much indicating that DS is present then I would like to garner as much info as I can to help her when she needs it.

This is their 3rd child... they were initially planning to only have 2, but when their youngest was 3 they decided they wanted one more, dearly hoping for a girl after their 2 gorgeous boys....

Anyone with help or advice or anything.... I would really appreciate it... I feel so helpless for her, and I am the one she turns to for advice on a lot of things (I can still remember our conversation one day where I basically had to teach her how babies are conceived when she and her DH decided to start trying for a family!!!)... so really want to be there for her.

[Mrs Awesome]

:hugs::hugs::hugs:Sal, you sound like an Awesome friend.

:hugs::hugs::hugs:For your friend, she must be pretty scared right now.

I have not heard of an association between a short or absent nasal bone and Down Syndrome. However, I am not an expert in this area by any means but have nursed many babies with DS over the years. Most DS babies will have a wide, fairly flat nose.

Will she be seeing her Ob or someone soon who she can discuss the meaning of the results with?

[DQ]

Sal this site here (http://www.cdadc.com/ds/downsyndromepregnancysymptoms.htm) says the lack of nasal bone is a big pregnancy marker for downs :(

A close friend of mine also had a high risk factor at her nuchal scan, and also was told the sonographer could not find a nasal bone. She gave birth to her downs baby almost 3 years ago :) He is a beautiful child.

I hope yur friend is ok throughout the remainder of her pregnancy. I just worry that it will all hit her at once, as it did for my friend :crying:

She is lucky she has you :hugs:

[ojmum]

I understood that the lack of nasal bone was an indication of possible downs, as Aya said.

I hope everything works out and your friend is equipped with information before bubs is born. Has her ob talked about this results with her?

You sound like an amazing friend, she is super lucky to have you!

[SalTheGal]

:hugs::hugs::hugs:Sal, you sound like an Awesome friend.

:hugs::hugs::hugs:For your friend, she must be pretty scared right now.

I have not heard of an association between a short or absent nasal bone and Down Syndrome. However, I am not an expert in this area by any means but have nursed many babies with DS over the years. Most DS babies will have a wide, fairly flat nose.

Will she be seeing her Ob or someone soon who she can discuss the meaning of the results with?

She is out in the country- between our small home town, and my larger regional town.... she is choosing to deliver in the small town, which means she is doing largely GP shared care... with Ob's input at ultrasounds.

She hasn't really said much about support she is getting from her HCP... I don't think its much really because as she has chosen not to have the amnio, nothing is set in concrete... they don't really know anything till bub is born.

Aya, that is *exactly* what I am worried about... that it is going to hit her all at once.... I think she is choosing at this stage to beleive that everything will still be ok... and her husband is definitely in denial.

They are a very sheltered couple, "simple country folk" for want of better words (and i mean that in NO way offensively- I class myself the same way!)... and having to take care of a Downs baby is going to be a huge shock to them.... I work in disability, so will help as much as I can... but they just haven't even been exposed to it.... let alone having to live with it.

[JJAZ]

i Agree with pp - The lack of or small nasal bone is an indication of downs.

This is a beautiful blog (you may have come across it) about a mother who gave birth to a baby with downs, He birth story is amazing, heartbreaking, but full of love and emotion and it is well worth a read. I read her blog daily (i dont have a baby with downs) but i just LOVE her outlook on life.

http://www.kellehampton.com/p/nellas-birth-story.html

I hope that you are ok. and your friend also. It seems she has a great support in you!!!

[KatiesMum]

:hugs:

Its a hard situation.

Tp be honest though, I dont know really how mcuh you can do .... if they do not want to acknowledge the risk, you are only going to damage your friendship by pushing info and reality onto them.

If bubs is DS they will have to face reality soon enough. All you can do is be there.

(I have to say though, with it being such a risk, I am surprised she isnt being transferred to a larger hospital as many downs babies can have significant health issues... heart, lungs etc)

:hugs::hugs::hugs::hugs:

[Amara]

Yes it is a marker for DS. That was explained to me when I had a high risk NT result. It was the first thing they looked for after discovering the High NT measurement. It doesn't mean bub will have it, but is more likely to have it with a high risk result and no nasal bone present.

Perhaps you could gather some info for her and have it handy should she suddenly decide she does want it or indeed need it when bub is born.

[3blondies]

i Agree with pp - The lack of or small nasal bone is an indication of downs.

This is a beautiful blog (you may have come across it) about a mother who gave birth to a baby with downs, He birth story is amazing, heartbreaking, but full of love and emotion and it is well worth a read. I read her blog daily (i dont have a baby with downs) but i just LOVE her outlook on life.

http://www.kellehampton.com/p/nellas-birth-story.html

I hope that you are ok. and your friend also. It seems she has a great support in you!!!

That was beautiful! i have tears streaming down my face!

[SalTheGal]

i Agree with pp - The lack of or small nasal bone is an indication of downs.

This is a beautiful blog (you may have come across it) about a mother who gave birth to a baby with downs, He birth story is amazing, heartbreaking, but full of love and emotion and it is well worth a read. I read her blog daily (i dont have a baby with downs) but i just LOVE her outlook on life.

http://www.kellehampton.com/p/nellas-birth-story.html

I hope that you are ok. and your friend also. It seems she has a great support in you!!!


Yep Itty I :bee: Kelly Hampton... I too read it often... I have wondered about linking her to the blog, but wonder if it might be too much for her to cope with right now.

She isn't not accepting the risk... I just don't think she's taking it as seriously as she could be IYKWIM.

She says if her bub has downs it won't change her love etc :cloud9: I just don't think she realises the enormity of what she is going to face.

I think she would actually appreciate me giving her links, websites, info etc... as that is where she probably doesn't even know where to start (she only got a computer and starting using the net earlier this year!)...

Re the transfer... I am catching up with her for lunch next week... am hoping to find out a bit more about where she is giving birth, what they plan of action is etc then- I am sure these are questions she hasn't even considered.

[SalTheGal]

I should add I guess I am trying to find out HOW likely it is that their little one will be born with Downs given the lack of nasal bone.... if I know that it is highly likely, then I will probably start to change my tact... from agreeing with her about hoping everything will be fine... to gently prodding her into the right direction and mind set to have.

I guess I am lucky in that I know she will listen to my advice, and she respects what knowledge I have to offer her- so I want to make sure I am giving her the right knowledge.

[Misschief]

Hun, I am glad she has such an awesome friend like you. One of the girls at playgroup had a 1:9000 chance of having a child with DS. She ended up with a little girl with DS. She's an amazing little girl though. At 3 years old she's learning sign language to communicate and she's very good at it too.
Its good to know that like autism, there's different grades of DS too. So if she does end up with a child who has DS, I hope it will be mild.

Unfortunately I cant give you any advice on how to proceed.
Have a look here and see if you can make contact with any of these organizations. They might be able to tell you about the link between lack of nasal bone and the risk of DS. They might also give you some tips and hints on how to proceed with gathering info for your friends and prepare her for the worst case scenario:

http://www.bubhub.com.au/directory/find/children-mental-physical-special-needs-support

[Fox in Sox]

Hi,

I do have some experience in this, and happy to share what I know. My daughter was born 18 months ago, and surprised us with her extra chromosome. It was a tremendous shock for us, but I wanted to share with you that's it's nowhere near as bad as I thought it would be.

She doesn't read, doesn't really spend time on the net, and just seems to be happy to go with the flow....
Not necessarily a bad thing. Although information can be power, there is a lot of misinformation out there, and ALOT of outdated information in relation to Ds. For me personally, reading alot, in books and on the net was a way to reassure myself, but it's not for everyone.

I feel so helpless for her, and I am the one she turns to for advice on a lot of things
She is lucky she has you to go to, but I can understand it's scary when you don't have the information to give her. Each state has their own Down syndrome association/society, and I have found ours here in SA a HUGE support for us. Here is a link to the Victoria one: http://www.dsav.asn.au/

She is out in the country- between our small home town, and my larger regional town.... she is choosing to deliver in the small town, which means she is doing largely GP shared care... with Ob's input at ultrasounds.
I am in country SA, never saw an OB at all, just GPs. My daughter was actually delivered with midwives there only; the Dr arrived half an hour or so after she did (she was in a bit of a hurry towards the end!). A very uncomplicated labour and delivery, completely unremarkable hospital stay (except for the diagnosis of course!!) etc. While bubs with Ds are certainly at higher risk for complications, if there have been no issues picked up on the ultraound with her bub's heart or anything else, there's no reason she can't deliver in a small town.

They are a very sheltered couple, "simple country folk" for want of better words (and i mean that in NO way offensively- I class myself the same way!)... and having to take care of a Downs baby is going to be a huge shock to them.... I work in disability, so will help as much as I can... but they just haven't even been exposed to it.... let alone having to live with it.
It's actually really not that bad! Once again, if bub has big health issues, that's a whole other story, but if it's only Ds, there's not a lot more to taking care of a baby with Ds, than there is taking care of a baby without Ds.

There are some fantastic supports around, although most of these are either books or websites, so may not be much use to her if that's not her "thing", but I will pass them on anyway, in case she decides suddenly that she does want the info, or perhaps they might help you.

- I have alwready mentioned DSAV, but I reckon they'd be your best place to start
- A website called Down Syndrome Down Under. Sorry I can't provide the link (I am at work, and can't access the website from here), but it's a forum, similar to this one, but specifically about Ds.
- There are a stack of great books, some of my favourite are Gifts (a collection of short stories), The year my son and I were born, Tuesday's Child and Expecting Adam.
- Kelle Hampton's beautiful blog has already been mentioned. A couple more blogs that I would receommend are:
http://finniansjourney.blogspot.com/
http://pudgeandzippy.blogspot.com/ (these people have adopted two GORGEOUS bubs with Ds - it's a lovely blog with some great pics of their littlies)
http://sweetellagrace.blogspot.com/ (I love this one, but maybe not a great one for your friend, as this little one is currently being treated for leukemia - leukemia being one of the health issues which kids with Ds are more prone to than other kids)

I am close to the SA/Vic border, and we actually attend a support group in Victoria regularly. I don't know where in Vic you are, but if it's near this are, feel free to PM me, and I can give you details of that.

Please feel free to PM me about any issues, or if your friend does want to talk (phone or email, I am happy to supply my details).

Good luck, to you both :hugs:

[SalTheGal]

Well my friend had her bub last night.... just over 4 wks early, and I don't know any details yet.

I am going beside myself with anxiousness.... I got a generic text saying she was born, with the size etc... and "all is good" on the end of the text...

I've tried to call her today- the hospy wouldn't put me through, I've texted her, and she sent a text saying she'd let me know when was a good time to call.

I feel so helpless at the moment, as I don't know any details.... :( :(

She has had a little girl... which after 2 boys, was going to be her one hope... she is only 3lb 9oz, 41cms long...

I just can't wait to see them, so I can give both my friend and her new precious girl a big hug.

Sorry.... really no point to this post, cept I just needed to get it out there somewhere, and DH doesn't get it!!!

[DQ]

Oh Sal, how stressful :(

I guess you just have to wait for the news. A healthy bub could still be a possibility, they could just be monitoring because of her being premmie :confused:

All my love Sal, you are a wonderful friend and she is lucky to have you, no matter what the outcome :hugs::hugs:

[Myztik]

:hugs: Sal, hope you hear something soon. You're a wonderful friend!

[Love is all you need]

:hugs::hugs::hugs::hugs:
I agree with Myztik hope you hear some news soon and you are a great friend
:hugs::hugs::hugs::hugs:

[trishalishous]

:hugs:

[SalTheGal]

Thanks girls... I am sitting here, web browsing all the updates about QLD as they come to hand... and worrying about my friend... its a rough day all round. :(

[parentingrocks]

:hugs: Sal, hope you hear something soon. You're a wonderful friend!
I agree
x

:fingerscrossed::hugs:

[hamlady]

I hope you hear soon and your friend is very lucky to have such a supportive friend.

[Hokey Pokey]

:hugs: Sal, hope you hear something soon. You're a wonderful friend!

I agree!!!:flowerz:

[SalTheGal]

:cheerleader1: :smiliedance: :celebrate: :hyper:

All is well!!!! I finally got to talk to her today... and went to see her tonight, and she has a healthy (albeit missing one kidney) little (TINY) girl...

I am so so so relieved. :babydust1:

She is soooooo tiny, only 3lb 9oz, so still in the humidicrib(?) but doing really really well.... I just can't believe how little she is... lots of tears when I finally got to see her.

Thanks heaps ladies for letting me vent here when I have been worried... but so glad all is ok now, and I can get on with spoiling her rotten with pink things!... :hugs:

[KatiesMum]

:hugs::hugs::hugs::hugs::hugs::hugs::hugs::hugs:

thats so great Sal.

:hugs::hugs::hugs: :cheerleader1::cheerleader1::cheerleader1:

[DQ]

Oh my goodness what a relief :hugs:

I'm so happy for you and your friend Sal :hugs::hugs:

[Jenga]

That's great news & you sound like a really good friend.

[Misschief]

Awesome news! :)

[SimplyMum]

Naw, read the whole thread. What an awesome friend- care to be mine? :D

Glad everything worked out and they finally get their pink bundle. :)