PKU Update

As many of you may have already heard, we received the horrible news last Friday (12/12) that little Riley has PKU (Phenylketonuria). PKU is a genetic amino acid disorder. People with PKU have problems breaking down an amino acid called phenylalanine (PHE) from the food they eat. PHE is found in protein: all meats including fish, milk and all dairy products including cheese and ice cream, beans, etc. In people with PKU, the PHE builds up in the blood and becomes stored in the brain. If PKU is not detected and treated in the first 20 days of life, brain damage starts and by 6 months of age, the child will become mentally retarded.

Obviously this was such a shock to our family. Thank God that Georgia is a state that requires all newborns to have the PKU test (or "heel stick") before they leave the hospital. In order for Riley to be PKU positive, both parents had to be carriers of of a non-working gene for PKU. Adam and I both have this gene and are carriers- but unfortunately did not know this, not that it matters now. The chances of Riley having PKU was only 25% with Adam and I being carriers, but the little man hit the genetic lottery:).

Riley's outlook is great...as long as his PHE levels stay normal (between 2% and 6%), he will be every bit as intellegent as Draik and Regan and will have normal growth and development. The trick is keeping those PHE levels normal. His PHE level at birth was 7.5%, which was enough of a sign for further testing. His level got as high as 33.5 % at 9 days of age...but has dropped off significantly since he started treatment, which is basically just a formula he will drink the rest of his life (an Ensure for PKU patients) and a strictly vegetarian diet. His level as of last Tuesday was 13.5%...and he goes back to Emory this Monday for one more test and hopefully his levels will be in the safe range. After this, we will start our weekly at-home heel stick (which I did very successfully last Sunday as a "test"). Riley is such a trooper and never cries when they take his blood or when I stick his heel!

We are very blessed that we have Dr. Singh on our team! Dr. Singh is the foremost expert IN THE WORLD on PKU and other amino acid diseases...Emory University's Department of Human Genetics (Riley's home away from home) has worked very, very hard to keep Dr. Singh as she constantly is having job offers from numerous universities around the world. Dr. Singh works with other researchers and scientists world wide on developing new ways to treat PKU patients. This is an exciting time for PKU as the first medicine has been introduced to treat people with PKU to help them have a little protein in their diet. It is a very exciting drug that is relatively new, and Riley would not be a candidate for it until he is 5 years old, but by then, the 50% success rate with this drug could be 100%! Riley even has his own dietician- Nyssa Davis- who absolutely ROCKS! She is constantly calling us about his diet- tweaking things to get his levels down as soon as possible...she takes really good care of him! The whole crew at Emory has been wonderful and have made a very scary situation for us a lot more comfortable.

Thank you all for keeping us (especially Riles) in your thoughts and prayers. We have started this blog to keep everyone updated...things have been so crazy that I have not had time to take a lot of pictures (besides, it's rained so much there hasn't been a good time to get pictures!) but hopefully things are settling down more so we can get some pictures posted. The one of Santa Riley and Regan was taken at Draik's band concert this past week. If you don't hear from us before, we wish you all a Merry Christmas and a wonderful and prosperous New Year!