Genetic Testing

I found out last Friday that our insurance company approved us to do genetic testing for Dylan.  His diagnosis up to this point has been based on "process of elimination" - basically everything that they can accurately test for was ruled out and this is what was left over.  There are also defining physical characteristics of Microcephaly that Dr. Anadiotis could identify, and Dylan seems to fit the bill. Even so, it is important for Brian and I to go through with the testing in order to see if there is any other information we can get by identifying the gene that is mutated and the exact form of Microcephaly that Dylan has.

Apparently this is easier said than done with this particular disorder.  Because it is so uncommon, the testing is not super advanced yet.  Up to this point, they have found multiple different genes that can cause Microcephaly.  The test we were just approved for looks at a gene that has been found to cause 40% of the known cases. So if we get a positive result (ie. they find a mutation on the gene that is being looked at), then we can move forward with that diagnosis.  But if we get a negative result, it just means that we have to keep digging further to try and find the mutation.  We have been told multiple times that the odds of finding something at that point are small, and the testing process is extremely expensive. 

As of right now, I haven't decided if I'm hoping for a positive or a negative.  I guess we just have to wait and see what we get.  

Dylan had his blood drawn today, and we are being told that the test results should come back within 4 - 6 weeks.  So you can bet that we'll be pretty stressed out awaiting the results sometime between August 20th and September 3rd.  Please pray with us for peace and the right answer, whatever that might be.

Poor baby Dylan after his traumatic blood draw!