Happy Birthday!

Blog 5:
Almost a year later

The other day Harrison turned one. He looked so happy, if only he knew how hard it is going to be in the future. He will always have to think about what he puts in his mouth. I feel badly and I don’t understand why bad things happen to good people. I went online wondering if any research was being done to permanently prevent MSUD. I soon realized that was not possible. There are many diets one can go on and there are the tests to diagnose a child. The best one could do is make a prediction using a pedigree and decide whether or not they should have children. Sadly, there is no permanent solution. I also looked up which gene causes the child to have MSUD. The gene that is responsible
for the disease occurs when there are mutations on chromosome 19 in the BCKHDA, BCKDHB, DBT, and DLD gene. These four genes offer instructions for making proteins that work together as a team. This protein is essential for breaking down BCAA’s. Mutations in any of these four genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of BCAA’s. As a result, these amino acids and their byproducts build up in the body. High levels of these substances are toxic to the brain and other organs and their buildup leads to the serious medical problems associated with maple syrup urine disease. This whole experience has made me realize what I want to be in the future. A scientist. I want to study this disease and I am determined to find a permanent solution. Maybe I can create a way in which the gene can work without the six proteins working together. Who knows? You just have to think positively