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!
