Our first Scare!

The day after we returned from the longest road trip ever, we took Evan to get bloodwork done.  He was acting fairly normal. Maybe a little crabby, but we just assumed it was from being stuck in his car seat. Otherwise he was acting normal...eating well and playing and smiling.  A few days later we get a call from his dietician and geneticist that his numbers are extremely elevated. His leucine was up to 1900. For most people, this would equal hospitalization because they would not be eating and would be fairly lethargic.  Since Evan was still eating, there was no need for hospitalization at that time, but we had to do some careful monitoring of his behavior and major adjustments to his diet. We stopped all Enfamil (that's his protein) and only gave him his MSUD formula.  I was worried he wouldn't go for it because he seems to dislike his MSUD formula, but we got lucky and he continued to eat a normal amount of formula and we were able to keep him hydrated and get nutrients into him.  We also had to increase his supplments of isoleucine and valine because as his leucine was dropping, they were dropping even faster.  We did some extra blood tests and luckily his numbers started to drop immediately and were back to normal within a couple of days.  Thank you Jesus for watching over our son!  Any time his levels get elevated, there is a risk for any number of issues to arise including neurological damage and palsies.  We are lucky that it seems at this point Evan is just continuing on as a normal child.

After this scare, we have thought a lot, researched a lot, and prayed a lot and really feel that we need to look further into the option of liver transplantation.  In my research, I came across a support group and spoke with a couple of different families. One is a family who lives in Gurnee, IL where I had my first teaching job and the other happens to be an Air Force family whose son had a liver transplant for MSUD when he was about 9 years old.  He is now 13.  I think this family is going to be a HUGE support for us as they know how to battle with TriCare (our insurance) and the ins and outs of the Air Force.  I spoke to the father for over an hour after he emailed me back and told me we had a lot to talk about and to call any time. They are a loving Christian family with 2 boys. Ryan is their oldest and was diagnosed with MSUD after over 20 days of tests and worries from his family and doctors. At the time, MSUD was not being tested for on newborn screening in all 50 states.  Ryan lived with his MSUD for 9 years before having a liver transplant and in talking to his parents, had they known how different his life would have been with one, they would have done it sooner. However, the information about liver transplants for MSUD was not readily available then as it is now and it was not as common.  They came across their decision after meeting a family whose child had done very well with diet monitoring for her MSUD and then suddenly had a major crisis and ended up in a wheel chair. That family now advocates for liver transplants. That is not what we want for Evan, so we too feel it's important to explore our options to give him the best quality of life that we can! MSUD is scary!