Genetic Testing

Many of you have been curious to know the cause of our children’s deafness. We initially, with Molly, decided not to do genetic testing. Once Stephen was diagnosed with deafness we knew that it was without a doubt genetic. It was Molly’s speech therapist that recently suggested doing testing after expressing her concern for Molly’s oral motor and speech difficulties. We thought more about it and realized that, before the move, it would make sense to see a Geneticist thru UVA’s health system.

Last Tuesday, we met with the Geneticist and Genetics Counselor to discuss our options with how we should proceed with testing. The first option was to do a simple inexpensive blood screen that would detect the two most common genetic causes for non-syndromic deafness (connexin26 and connexin 30). We decided to go with this option as a start before we drained the finances with the complex testing. They only drew a small amount of blood from our brave Molly. She was happy to be rewarded with a band-aid. Oh, the simple things in life!!! :)

Three days later, the Genetics Counselor called with the results. Connexin 26 was detected (ending our testing process). We are grateful that the results showed that it is not syndromic and that there are no other associated medical findings present with it (guessing her naughty behavior doesn't count). This gene is inherited in an autosomal recessive manner —meaning both Mike and I are carriers. This still means that our chances of having a deaf child is 25% (even if we have 2 that are deaf–the chances don’t change). Also we have a 50% chance of having a hearing child who is a carrier and a 25% chance of having a hearing child who is not a carrier. Fascinating stuff! With or without the odds, we serve a sovereign God who has ordained this to happen for His purposes.