sorry for replying that late, but I just wanted to make sure that you know how happy I was that you shared all those details. As this mutation is inherited dominantly, I guess that you and your sister are sharing the same destiny. And to me, it’s sort of relieving to hear that cochlear implants seem to be able to help. I guess it’s no fun to wear those, but I assume it’s at least better than being deaf. And I can comfort myself that there might be a last resort, when my hearing is completely down.
May I ask how old your sister is, and when she received the cochlear implants? How is she coping with them?
From my geneticist I know that there’s at least one documented family in Italy and one in Germany. She’s trying to contact them, maybe their history can give us some more insight what’s still waiting for us.
From your post, I sense you’re quite inquisitive and monitor recent research? Do you attend conventions like the one you’ve mentioned? Is it worth to do so?
Both of my parents have no hearing loss at all, so assumption is that this Myo-6 freshly mutated in my existence. My son is affected, too, and starts wearing hearing aids now in an age of 9. Also my 6-years-old daughter seems to be affected, if I look at her audio profile, but she’s not yet at the point to need hearing aids.
I would be very happy to learn more about any methods that could heal or at least alleviate it a bit, just like those promising gene therapies that they successfully tested with Snells Waltzer mice. It’ll come to market definitely too late for me, but maybe at least my kids have a chance…