Our Questions Answered

Abigail's genetic profile came back on December 15, 2008. The tests revealed that Abigail's hearing loss is the result of a Connexin 26 gene mutation. Connexin 26 is a protein that helps different cells pass molecules between another, specifically it helps to cycle potassium through the cochlea and the inner ear. This results in a build-up of potassium and resulting nerve damage of the cochlea hair cells. In about 2/3 of patients this damage causes severe to profound hearing loss. In Abigail's case, she retained a greater amount of her hearing resulting in only a moderate-to-severe loss. Since this particular mutation is recessive, both my husband and I must be carriers to have passed the recessive trait on. We have no incidence of hearing loss on either side of our families and have an older child without hearing impairment.

Our question is finally answered--we have a reason. I was incredibly sad, but also relieved; sad that this was something that we had passed on and could potentially pass on to our other children, but also relieved to finally know that there was nothing that I did wrong--nothing that I could have done differently to prevent this. Since her hearing loss was determined to be genetic we were provided with an ENT that specialized in genetic hearing loss in addition to a geneticist.