Pregnancy - baby just found to have genetic disorder 😢

[Pinkflower23]

Hi all,

I’m currently 16 weeks pregnant. I had cvs done at 13 weeks due to the combined test coming back as high risk. The first part for downs, patas and Edwards came back clear. I had a call last week to say they have found something unexpected and for me to go in to see a genetic counsellor.

They found OTC (Ornithine Transcarbamylase Deficiency) it’s an x related genetic condition. Me and my partner have given blood to see which one of us are a carrier of the condition as neither of us seem to have it.
I’m holding on the a little bit of hope that she is a carrier like me or my other half. Only boys get the full severity of the disorder. And that because girls have two x chromosomes and the mutation is only in one, the other healthy x can cancel the condition out. Carriers can get symptoms but normally very mild.
It could mean a life being a vegetarian and a life of pills and supplements. And in the worst case a liver transplant.

I feel so I’m the dark right now. Constantly worry about maybe looking after a child with an illness.
I’m unsure if further genetic testing can tell if she will have symptoms of the condition or she will just be a carrier.
I don’t know if this is a question anyone knows the answers too.

I have so many questions for the genetic councillor 🧬

Very sad right now 😢
Xx

Hello @pinkflower, I'm sorry you're having this worry. It must be really hard.

Have you tried calling Unique? They can give info, advice and sometimes some support in relation to genetic conditions. They could perhaps signpost you to support groups, where people will have direct experience.

I'm so sorry OP. Keeping all hope that it's the least severe. Sending hugs and lots of love your way.

Thinking of you. I've been in a similar place to you (20 week scan showed up a medical condition that wasn't life threatening but would involve a lot of operations and painful treatment). The pregnancy is the worst bit because there are more questions than answers and the condition your baby has seems more of a big deal because at the moment that's the only thing you know about them. Also you can't help them in any practical way so you just worry.