Monday, August 18, 2014

8/18/2014: Genetic Testing Results

Well, the results are in!

Part of the blood-work I had done a couple weeks ago was being sent away for genetic testing, which I failed to mention in that day's post. (The rest is to determine things like whether or not I have STDs, blood type, and some hormone levels). Today we received an email notifying us that the results are ready to view. J is out of town this week for work, but I decided to view the report anyways.

When I had my blood drawn, I had to decide between the basic genetic test or the more extensive test. Of course, the main difference is the potential out-of-pocket cost after insurance, but since the more extensive test examined tens of thousands of diseases versus just a few thousands I decided it would be more worthwhile to get the extensive version.

It turns out that I am a carrier for GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness. I'm not really surprised nor am I upset in any way about this official finding. You see, both of my parents are deaf and have been for as long as each of them can remember. Though I have some hearing loss, it doesn't appear to be the type this genetic trait indicates, which is congenital hearing loss that can be mild to severe but does not worsen.

My parents are the only deaf people in our family and may even be the first anyone in the family has knowledge of, but I always knew there was a chance for it to be genetic. Before J and I started to seriously plan for children we discussed the possibility of having a deaf child and agreed that this wouldn't be a huge deal. If anything, it would motivate both of us to sharpen our American Sign Language skills. Technology has advanced so greatly and there are many more educational outlets for deaf children now that I don't foresee this being an issue.

We will cross that bridge when we get to it. For now, we are looking forward to our appointment with Dr. K to discuss results and next steps.

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