Success stories needed! Autosomal Recessive condition (1:4)

[rainbowbright]

I am in desperate need of some reassurance and any success stories out there! My first child died from an Autosomal Recessive condition that we did not know we carried, we were of course devastated. I fell pregnant again last year and was able to test by cvs but unfortunately the pregnancy was also affected and we made the heartbreaking decision to have a termination at 13 weeks.

I am now 8 weeks pregnant and naturally terrified. I am trying to remain positive, a 25% chance of the illness is a 75% chance of a healthy child but in my darker moments I can’t help feel so terrified that we have beaten the odds twice what if it happens again?

I would love some reassurance or positive stories from anyone who carries a recessive gene and who has had a healthy child. We are due to have the cvs at approximately 11 weeks.

Thanks and lots of for all the ladies who are not having the straightforward pregnancy we all want.

 

[mafiamom]

i have no knowledge of this whatsoever, but wanted to offer hugs and prayers that everything turns out ok with your baby~

 

[krockwell]

Just didn't want to R&R. Best of luck, I hope you find someone who has some answers/similar situation for you to give you hope and ease your mind at least a little.

 

[Lottie86]

Didn't want to read and run, we're still waiting for the results to see if our baby has a very rare chromosome abnormality (we have a 1:2 chance that any pregnancy will be affected) that our son also has and is severely disabled as a result so I just wanted to send you some hugs as whilst our situations are totally different I do understand the stress of waiting for the tests and the results I hope with every fibre of my being that you get good news with the test results

 

[ghazal]

what was the genetic disease ur son had?Dnt worry at all.We have 2 healthy kids & after the birth of our 3rd baby we came to know that we parents are the carriers of SMA TYPE 1.My daughter died at 7 months.....so see i have 2 healthy kids.ß

 

[mafiamom]

ok i just talked to a friend of mine whose cousin has an issue like this. her first baby was born with a chromosomal issue. come to find out, both her an her OH are carriers of this particular chromosomal abnormality. they didnt realize it until they had their daughter. they are now pregnant again with a son, and after an amnio their son has no chromosomal issues whatsoever.

not sure if this is exactly what you are referring to, but thought i would share that the baby boy is just fine.

 

[rainbowbright]

Thank you all for your very kind replies. I think I was just looking for some reassurance that I am not alone! It is hard to feel you fit in with 'normal' pregnancy forums when such a risk hangs over every pregnancy. Thanks