We now officially know why Cormac is deaf. He is deaf from Connexin 26 gene mutation. What does this mean for Cormac? Really, it's just something he should know about himself. It will not change the course of his life or treatment. What does it mean for me and Frank? It means any child we have has a 25% chance of having hearing loss. So, baby girl has a chance of having hearing loss. It really doesn't matter to us. We said long ago when we discussed another child if deafness would not deter our decision. So, finding out after the fact is really no big deal. We could have an amnio to find out ahead of time. But why? We already know the drill. We know what to do if she has hearing loss.
The good news in all this? Because Cormac's deafness is caused by Connexin it rules out any "syndromes". We never thought he had any BUT there are some syndromes with hearing loss AND a cleft lip. The cleft lip is now being viewed as just an isolated incident because we know the cause of hearing loss. Does that make sense? Basically, the baby has nothing else besides the cleft lip. Hooray for us!
Now, what does it mean for Ciaran and Colin? It means they have a 75% chance of carrying the mutated gene. That said, they would have to have children with someone else who is also carrying the gene to have a child with hearing loss. The odds are so slim which is why Cormac is the first in both our families to be deaf. But it is possible. Frank and I both had it.
Cormac went for an 18 month check up at NYU. Yep, he has been hearing for 18 months. It seems like forever and just yesterday all at the same time. He has been sick but I took him anyway since he was feeling a bit better and it's so hard to reschedule appointments. So, with no nap and under the weather he was put in the sound booth for discrimination testing and an audiogram. I didn't get the results while I was there but as for the discrimination part. I don't think he missed one that I could remember. As a matter of fact, he was teasing them and picking the wrong one and giggling and then choosing the correct item. He's quite the little bugger. They also played an audio tape of a woman saying words. I think he only missed one word. His audiologist said they don't normally give the taped testing to children as young as Cormac but he was able to do it with no problem. He also repeated lots of words the audiologist was saying. At one point she said "finished" and instead of saying "finished" back to her he said "all done". His own little interpretation.
They didnt do a speech evaluation but I think it is supposed to be done shortly.
I was so proud of him. I was expecting him to be a little on the cranky side with no nap and sick but he was awesome. I believe the audiologist used the word "amazing". That sure can make your day.