It was confirmed to me today that I am not a carrier for SLC6A8 deficiency.
The mutation they found is one that they haven't seen before so they can't tell us what to expect in terms of severity of symptoms. I am feeling all stressy and anxious over this which is silly because it doesn't change anything as my son will always have this SLC6A8 deficiency. I guess part of me wishes that if it were a mutation they have seen before then they'd be able to tell me what we can expect down the road.
I'm not that surprised as there is no history of developmental delays in my family or my mother's family. Apparently this was just some freaky thing that happened either before conception (!) or in the very early days of my pregnancy. There's a chance that there's something wrong with my eggs which could cause problems for future pregnancies but, infertile as we were, having more children isn't an issue nor is it even on the table. The twins didn't come easily and I wonder if our fertility treatments played a part in my son's diagnosis? I've been told that they didn't but I can't help wondering..
3 comments:
Justin's mutation is also different from what they have found so far. I am also not a carrier, so it just happened. I am not sure if it would be easier if I was a carrier. I just feel my chest tighten reading your post. Why did this happen? But it is no use to go there. Justin is improving constantly and your son will too.
Thank you, Krisztina. We must just accept what is and move forward from there. Sometimes it's easier to be bitter and angry but that serves no purpose to anyone, especially my son.
Very interesting about your fertility treatments...we too went through many years of fertility treatments before we were able to conceive Declan! Really makes you wonder, doesn't it? I'm glad for you and your family it was de novo.
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