Thursday, August 06, 2009

Noah's test results are in

We finally have a confirmed diagnosis on Noah, and the cause of his death. The results came back from the lab Monday that he officially had MCAD. He had the most common manifestation of it as well. Of the children that get MCAD, less than 10% of them get sick and die in the neonatal period. Of those babies, 90% of the caucasian babies show the same gene change. Noah had this gene change. They were hoping to find this as it helps prove the research they have done on this to date. It helps prove the case for screenings and helps them in developing treatment plans for babies that have it. The results show that more than likely, Chris and I are both carriers of MCAD, and are now officially good candidates for genetic screening and counseling. We have a date set to go up to Children’s Hospital next week to go do our blood draw to look at our DNA and begin the process. After they take our blood, it will be several more weeks of waiting for our results. Either way, it feels good to be moving forward with understanding what happened. Chris and I are so relieved. It is comforting to know that what happened to Noah had a name. It wasn’t something either of us did or could have prevented. Most parents don’t know what happened to their babies, and we are unbelievably blessed that we know. We are eligible for prenatal screening and expedited test results on any future pregnancies/babies, so that is comforting to know as well. For those family members out there that are wondering what to do about testing themselves, when we go up to Children’s Hospital next week, they are going to help us write a letter that explains exactly what you need to do. You will need to do this through your regular doctor and they will give us the specific test name you need to ask for.

Another side note, the Noah Robert Wilkerson Fund has raised about $4,800 to date! They were blown away by this at the hospital. I think they normally get a few hundred bucks, so this is huge! If you have wanted to donate but haven’t yet, the address is below.

The Children’s Hospital
Inherited Metabolic Disease Clinic
Attn: Noah Robert Wilkerson Fund
13123 E. 16th Ave, B153
Aurora, CO 80013

A HUGE thank you to everyone who has contributed! This research has been the one positive thing that has come out of this. Being able to fully study what has happened in a way that can benefit others has been a comfort and a blessing. Thanks to those of you who have contributed so we can keep this going.


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