Genetics....

Just hung up the phone with Genetics at CHOP. It seems that someone in the chain has dropped the ball. We had the testing done way back in April. We were told we would have the results in 4-6 weeks. No one called us. Not sure if I was supposed to call them...anywho....Not all of the results are in. The woman I spoke with said that some of the tests are absent...not sure if they weren't done or if the results just weren't posted to her file. I'm thinking someone went to lunch and forgot where they left off!! :-)

For the tests which we do have results....Pendred Syndrome, Negative. Thyroid test, normal. So at this time, the results are pointing away from Pendred. The gene mutation test results that they have in, are all showing negative....meaning all normal. So Connexin 26 and Connexin 30 are normal. That means that Kurt and I are not carriers of the mutated genes that are often attributed to hearing loss. Subsequently, Mikaela has that EVA (Enlarged Vestibular Aquaduct) in her right ear, and the gene that is attributed to that also came up negative.

They are also looking into the possibility of the malrotation being linked in some genetic relationship...not sure how, but once the rest of the tests are in, CHOP said they would explain that to me.

I should have the rest of the information in a week or so because of some people being out on vacation. Once we have all of the results, we will know if she is a case of Non-Sydromic Unexplained Hearing Loss.