Didn't think I could be more worried

I went to see consultant today as follow up after tfmr. I hadn't seen her before and wasn't expecting any new information.

Instead she told me the results from amino I had after finding out about my boys spina bifida. It showed that i carry a genetic mutation (she didn't say mutation but I can't think of word she did use) related to growth hormone and had passed it to him. Consultant said it wasn't clear in report what the risks or outcomes of the mutation are. But that the spina bifida most likely occured separately. Consultant said they had referred me to great ormond street to see geneticist as it is so rare. The referral was done in November so she was surprised I hadn't had an appointment through yet.

So now I have this extra worry. Consultant said from what she had read in my report that it would only cause abnormalities in boys but didn't automatically mean that if I'm carrying a boy it would have it. She was unable to say what the risk was and said to wait and see geneticist. Then she told me not to worry about it! So of course that's what I'm doing!!!

I just feel so helpless and guilty that I've given something bad to my son. Also my daughter is likely to be a carrier and the thought of her having to go through this when she's older is just too much.

And then I try to be positive and think it could be nothing that bad. It's the not knowing what I'm dealing with that's driving me crazy


Xx