I thought I would have to teach my daughter about the world; turns out I have to teach the world about her. They see a girl who doesn't speak,
I see a miracle who doesn't need words.

Wednesday, July 22, 2015

Genetic Testing

I can't believe summer is half over and it's been almost a month since I have blogged.  We have A LOT going on that I want to blog about!!  For now I'll start with our recent genetics appointment.

For the last two years I've been asking, okay, maybe begging, our geneticist to run whole exome testing on Alex. 
This is a little technical, but whole exome sequencing is a highly complex test that was developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the whole exome sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.   The exome refers to the portion of the human genome that contains functionally important sequences of DNA that direct the body to make proteins essential for the body to function properly. These regions of DNA are referred to as exons. There are approximately 180,000 exons in the human genome which represents about 3% of the genome. These 180,000 exons are arranged in about 22,000 genes. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. Therefore, sequencing of the exome is thought to be an efficient method of analyzing a patient's DNA to discover the genetic cause of diseases or disabilities.
This is a fairly new test so for the last two years our geneticist felt we should rule out some other possibilities (all negative) and give the test some time to improve. 
 At our last visit in May he agreed, it was time.  And I cried.  There, obviously, are no guarantees that this test is going to give us the "why" to why Alex is, well Alex, but it's been our best shot since we started this ride.  The test will take about 6 months to run and get back to us and as hard as it is to try and not think about it, it's nearly impossible not to. 
We went downtown to MCV last Monday and Aaron and I had to have some genetic counseling and then all three of us were sent to the lab to have our blood drawn.  During the counseling they told us that while we are looking for the root cause of Alex's issues, the test may bring up some things that we don't want to know and we had to sign off on basically an opt-out of any of that information in our report.  Because blood was taken from Aaron and I as well as Alex, there could be things that show up, like cancer, or heart disease, or other syndromes that we may have genetic markers for.  At first I asked why wouldn't anyone want to know that?  Knowledge is power right?  But the more I think about it the more it freaks me out.  What if something comes back on any of us?  It may or may not mean anything, it may just mean we would have a propensity for it, but it wouldn't necessarily manifest - but every time one of us got the slightest symptom of something I know me, I will automatically go there and assume the worst!  So, please please, please, say some prayers for us.  Pray that I have patience to wait these six months out.  Pray that if it's God's will we will FINALLY have an answer, pray that nothing else materializes from this test other than the answer we are looking for.  If this test is negative, we will have to wait another 4-5 years to run a whole Genome test and honestly, I don't know if I can continue to ride this roller coaster of emotions.  I just want a tiny bit of closure.  I want to know it's something that was a fluke that Zach doesn't have to worry about when he has kids.  I want to know that she has a normal life expectancy, I just want to KNOW!