Alex's Discovery of his Disorder

I have some great news!!! 

The National Institutes of Health discovered my genetic disorder. The doctors did genetic tests in April, 2013. Now we know that the name of my disorder is called “Brown-Vialetto-Van Laere Syndrome” or BVVLS and  it is a rare genetic disease. In fact, there are less than 40 people known to have this disease in the world today! That makes me very rare! I got some information from the neurologist and geneticist at NIH that my disorder is caused by a gene that does not work. It was given to me by my parents before I was born.  That means that my parents each have a copy of the bad gene too.  But because I got a bad copy from each parent, I have the disease but they don’t. The disease means that my body does not metabolize vitamin B2 (riboflavin) very efficiently. Therefore, only some Vitamin B2 makes it into my cells. This causes me to have nerve damage all over my body. I have been taking B2/riboflavin supplements and I hope it is helpful for BVVL. There is research that shows the causes and effects of this syndrome, so that’s why there is exciting news for everyone to hear about it!!  Riboflavin therapy has shown to improve and often reverse disease symptoms in many of patients who were treated.  That means there is hope my vision, hearing, arm and hand function could improve over time. This is very exciting news for me!