Got to see a Clinical Genetisist

[FLU77ERBYE]

Hi Again ladies,

Just hobbled down the stairs to the post box and there was a letter there from Alder Hey hospital asking me to go in on the 23rd Sept...My Oh has a condition called Simpson Golabi Behlm Syndrome, its a rare condition that affects the X chromazones... I didnt request to see a CG but they want to keep an eye on her and make sure she doesnt have anything wrong.

I know she will be a carrier of the syndrome but I'm just scared that they are going to tell me somethings wrong. My OH & his little brother have the condition but his brother is alot worse than him plus he has brain damage...I have been told that Jorja can display some of the charastisitics(sp) of this condition.

Im pretty worried now, what kind of things do you think they might do? I had my fundeol measured last week and it was 24cm which at 25 weeks is quite big apparently...

Sorry for the long post any help or advice will be lovely

Thanks
Claire xx

 

[Cookie1979]

Sorry I can't be any help, I have no idea what they will do.

In regards to the height, I'm sure I read that to be right on track the fundal height needs to measure the same as the weeks, so 28cm for 28 weeks. I might be wrong and I cannot remember where I read it, but I'm sure that is what it said. Just googled it, yep your baby should measure a cm for each week, so measuring 24 cm at 25 weeks is a tiny bit smaller, but still within a healthy range. So size wise you have nothing to worry about.

Hope all turns out ok. x

 

[FLU77ERBYE]

Cookie - the Mw said in my baby chart shes 1cm under the 'big' baby line, if that makes sense... but if it goes like that then she's going to be ok! x

 

[Cookie1979]

Hmmm thats weird cos my fundal height was 27cm at 27 weeks and my mw said he is right on track.

 

[FLU77ERBYE]

Ooer... I'll ask at my next appt! thanks for your advice hun xx

 

[Worrisome]

Hi flu77erbye, sorry your having to go through this
My son has autism and was told about seeing a geneticist for fragile x, so I did look into a little. I found this was quite helpful but not sure on the unborn tests, I was told they could have checked baby antenatal, but no point with us.

https://www.cuh.org.uk/addenbrookes/services/clinical/genetics/clinical_genetics/faqs.html

 

[MissKate]

Alder Hey is an amazing hospital! I'm sure they just want to get a step ahead of baby and be prepared for anything!

My neice was born as a carrier of a genetic abnormality (Not sure what - came from other parent) and they simply wanted to run some tests and do some research to prepare the parents!

I would prepare a list of questions and take them with you to make sure you don't forget anything.

Your in safe hands - They are they best!

 

[Worrisome]

Ditto agree with MissKate, we were under Alder Hey for Archie's heart condition. Fab hospital.

 

[lushious09]

usualy as a rule of thumb you should measure cms by the weeks you are so for eg 24 weeks 24cm 25 weeks 25cm...etc but its totaly normal to be 2cm in or out...

As for the condition i dont really know anything about it but going by how chromosome conditions work as long as you are clear the percentage is low for her to have the condition so i would try to relax hun xx