BFP...a week after being told we need genetic tests

[zoefromsussex]

Last thurs we finally got the post mortem results for our son George. It confirmed Pierre Robin Sequence and now we're being referred for genetic counselling and testing because there is a chance that he may also have had Sticklers Syndrome.
Anyway, before this we were told there was no problem with ttc because the doctors presumed our son's defects were 'pure bad luck'...today, I got a BFP and now I've terrified its going to happen to this baby too.
Has anybody else here been in this situation and gone on to have a healthy baby?

 

[CandyApple19]

My good friend Melany had a daughter named Skye, and she was told at her 20 week scan she had Edwards Syndrome and asked her if she wanted to terminate the pregnancy or not, but she chose not to and gave birth to Skye and held onto her little angel for 6 days before she passed away, then a pregnancy after that ended at 12 weeks and her and her partner thought there would be something wrong every time......

She now has a gorgeous 5 month old named Tyler and he has nothing wrong with him at all, and she is also 17 weeks pregnant with another baby who has also shown no medical issues like the other two had.

I'm so so sorry about your little angel, they will keep a very close eye on you this time so make sure the GP and whoever are dealing with your tests know too so that you get frequent scans etc...

Lots of love. xxx

 

[zoefromsussex]

Hi and thanks for your reply.
We already have a 3 year old daughter but she's not my husband's biologically so we're really panicking about the possibility that we have genes which just don't mix. I'm waiting for the obstetrician to call me back as when we got the autopsy report last week she said to call her if I get a bfp. I guess we just have to wait and hope now x

 

[CandyApple19]

i'm keeping everything crossed that things will be okay, going through that again would be truly too much for anyone..

 

[mintypeas]

hi honey i just wanted to say congrats and let me know how you get on as the other lady said it can be a normal pregnancy with a beautiful baby as a result. not sure what to say just that you are in my thoughts honey x sylv x

 

[Tina_TTC2]

sending you hugs and positive vibes long distance.

I hope and pray for you that all will be ok, and that you can relax and enjoy the pregnancy a bit (which I know is hard for any mom that hasn't had the history you describe!)


Take care,

Tina

 

[zoefromsussex]

Thanks girls! I'm over the moon to find myself preggers again so soon but its being spoilt a bit by the worry of a poorly baby again. Sticklers is a horrible condition as sufferers are often blind and deaf and in terrible pain with arthritis etc. So you can imagine why I'm so worried. I'm hoping George didn't have Sticklers though as I've read that Robin Sequence can also be a one-off thing.
The obstetrician phoned this afternoon to say she's faxed the geneticist asking her to see us urgently and then I guess I just we just have to wait and hope really x

 

[roonsma]

Congratulations on the BFP, thinking of you xx

 

[vickyd]

Zoe congratulations on the bfp!!! I know how frightened you must feel but you have to think positive! Im crossing everything for you babe!!!

 

[debgreasby]

Huge congrats on your pregnancy, hope you get some answers soon, will be thinking of you xxx

 

[justamy]

I know this is a pretty old post but thought I would post in case someone checked it. I actually have stickler syndrome. I do agree with you it is a horrible disorder, I am one of the lucky ones as I can still lead a fairly normal life but things are starting to get worse now. Hope your pregnancy is going well. I am actually 7 months pregnant myself, we actually had the baby tested by a CVS test at 11 weeks and it came back all clear so luckily my baby boy won't have Sticklers.
Good Luck with the rest of your pregnancy. XX