Appointment Details

We went to the genetics appointment last week and found out some very interesting information. We are so incredibly grateful to the team of doctors and geneticists from Upstate University. They have worked so hard to help us keep fighting even though the disorder took Drew's life. We were essentially given two options for testing to try and determine the genetic mutation or gene that caused this disorder. Our goal is to finally receive a genetic confirmation about which subtype Drew had and prevent future children from experiencing severe symptoms. In knowing the gene that is associated with this disorder, the hope is that we can test before other children are born. If future children present with this mutuation as a dominant trait (recieving both mutated genes from Robert and I) then we would be able to begin treatment immediately instead of waiting for the symptoms to begin.

The testing option Robert and I have decided to go with is called Clinical Diagnostic Exome testing through a company called Ambry Genetics. They are the company that pioneered the Human Genome Project. I attached a link to this post if you want to check out more about what they do. They only began this type of testing for individuals like our family within the last year. It is very detailed in how they do the testing but essentially they will pinpoint the known genes that cause this disorder and match any mutations we both have. Then, through the process of elimination they will get rid of any mutations that Alexis has because she is healthy; those could not have caused the disorder. It is pretty amazing that they can do this. Robert and I fasted and prayed this past week and feel strongly that we should pursue this testing. It will not only help our family to have more children in the future but we can pass all this information on to ensure that what happened to Drew, won't happen again.

Here is the kicker...the test costs $14,000!!! Thankfully we have just around $9,000 in the memorial trust fund that was created after Drew passed away. That means we are about $6,000 short right now. However, we are not giving up that easily. We will keep fighting.

http://www.ambrygen.com/ClinicalDiagnosticExome.html

Thank you all for continuing to remember Drew and our family as time passes. We will never forget him but it is comforting to know that he touched so many peoples lives in his short life.