3 ms·

You are lucky to know ahead of time about your respective mutations. We didn’t (no family history and both asymptomatic carriers) and my son was born bilateral

You are lucky to know ahead of time about your respective mutations. We didn’t (no family history and both asymptomatic carriers) and my son was born bilateral profoundly deaf (connexin 26). We have chosen the path of cochlear implant (which is an amazing technology). We are both looking forward to seeing advancements in therapies for GJB2 mutations sparing many parents (and children) what we have been through. However, corrective therapy for GJB2 might require much earlier discovery of the issue and earlier administration I believe, as usually those variants affect actual physical growth of hair cells in the cochlea.

arjie 2y ago
Yes, we are fortunate to live in a time where the technology is advanced enough to do this. My wife and I got ourselves sequenced before we decided to have a child (that's just data nerd nonsense) and when we discovered this we went through the whole shebang. I believe it's the OTOF variant that affects the cilia growth. Without intending to give any hope (because I am a software engineer in the end, not a geneticist), perhaps the GJB2 variants can be fixed because they regulate electrical function. Who can tell. Decibel's AAV.103 will go into clinical trial in the next couple of years. https://www.decibeltx.com/pipeline/ https://www.decibeltx.com/pipeline/ The cochlear implant is wonderful tech. Before we had enough embryos, it was something that we discussed with our genetic counselor. Is your son still very young? Some of the OTOF treatments were in older children (in China). Perhaps the GJB2 treatments could be too. I am hopeful that even if your children and mine can't access this treatment, we will make this condition repairable shortly after birth from our generation onwards.