We got the results several days back but I am just getting around to writing about it. Darn those pesky 3 children taking all of my time ;)
Aidan was diagnosed as having 2 different mutations on the OTOF gene, at least I think it is called that gene. I may be wrong. Anyway, he has OTOF(otoferlin) related deafness. When he has children, he will pass it along and no matter what, he children will be carriers. If the person he has children with also is a carrier, then there is a 25% chance the child will be born with hearing loss, 100% chance they will be a carrier. It is not high probability at all, but if it so happens that he has children with someone with hearing loss due to OTOF, then there is of course a 100% chance that each child would be born with hearing loss. Now, if he has children with someone and they have hearing loss for a different genetic reason, then I believe that those children would be carriers for both genetic issues, but I THINK that they are all recessive so it should be fine.
We also found out that Edward and I have a 25% chance each pregnancy to have a child with hearing loss. This hearing loss will always be present at birth and will always be in the severe to profound range. This doesn't affect our decision for more children. We do plan to have 1(maybe 2 more) in 3-4 more years after I go back to school for yet another degree and once we move into a bigger home as we are still in the home I bought when I was 19 and single in college. Anyway, that is the genetic results in a nutshell, I'm sure there is a lot more information I could add, but it gets rather boring.
I'm that mom
9 years ago