Most of you know that I have a congenital (present at birth) muscle disease called Nemaline Myopathy (NM). NM causes weakness in my skeletal muscles - the muscles used for movement. Affecting just one in every 50 thousand births, NM is is considered a rare disease, and because medical research is based on profit potential, funding for rare disease research is limited. Therefore, for my birthday, I'm raising money for A Foundation Building Strength (AFBS), the only non-profit dedicated to funding research for Nemaline Myopathy.
NM runs in my family, and for us it's mostly an inconvenience. I get tired easily, and need more time to recover from physical activity than my friends. I can't run, stairs are difficult, and currently one of my biggest challenges is getting to class on time. But I'm ok. I don't know how my NM will look in the future but I'm not afraid of living life as best I can. But life without Nemaline Myopathy would be nothing short of spectacular. And so, we need research to explore potential therapies for treatment.
Nemaline Myopathy means difficulty breathing, speaking, and eating. In the most severe cases, children with NM die before the age of two. Less severe cases require assistance with breathing and eating, and most will need mobilty aids. NM has impacted my family in a tangible way, but there is hope.
In one current study funded by AFBS, Dr. Gupta has found a mechanism by which Kelch proteins, a specific protein in muscle, regulates the stability and function of skeletal muscle. She has created zebrafish models with a similar genetic code to humans with NM. The fish with NM show weakness by swimming very slowly or not at all. When Kelch proteins are absent, the fish were slower and weaker. She discovered that by reducing the toxic proteins by increasing Kelch protein in the fish, they swam faster and longer, demonstrating improved muscle function
Join me in supporting real change. Help us change the lives of those living with NM through A Foundation Building Strength, the only organization completely dedicated to NM research. The average daily cost to support one NM research project is $200, and that's where I've set my goal.
Just a small donation will go a long way to helping me meet my goal for A Foundation Building Strength