Second, news flash...Ryan's hearing loss is genetic. And for anyone who is familiar, it is not the most common gene associated with hearing loss, the Connexion 26. After this initial test confirmed that Ryan had hearing loss not due to genetic rationale, our geneticist asked us if we would like to do further testing on a whole host of genes that are associated with hearing loss. She forewarned us that many of the genes that we were testing also coincided with other 'syndromes' that could be developed in addition to Ryan's hearing loss. Of course, we said yes, as we really wanted to know anything we could know about anything related to Ryan's reason for hearing loss.
This test took place after her CI surgery-- they drew blood while she was under. Well, hello, fast forward, 5 months later (wow, it's been five plus months since surgery...) we got an answer, as follows: Two mutations (variations from "normal") were identified for Ryan in a gene called TMPRSS3. This is likely to be the cause of her hearing loss. Mutations in this gene are associated with non-syndromic sensorineural hearing loss. This means that her hearing loss is NOT due to an underlying syndrome. We do NOT expect her to have additional health problems related to the hearing loss.
Hearing loss due to mutations in TMPRSS3 is inherited in an autosomal recessive pattern. If we assume that you and Ryan's father each have one of the two mutations that Ryan has, the chance for you to have another child with hearing loss is 1 in 4, or 25%. This chance is the same with each pregnancy. Testing can be done to confirm that each of you have one of these mutations. Testing can also be done in a future pregnancy if that is something you would be interested in.
As you can tell, I'm pretty excited. It totally gives me some closure, I'll just leave it at that. That's all for now..so much to do...we are moving, just 2 miles away, but man oh man, I will be glad when it's over.
