Friedreich’s Ataxia is a debilitating, life-shortening, degenerative, neuro-muscular disorder. There are approximately 5,000 patients in the US and 15,000 globally. It is a single gene defect disorder that prevents the production of a protein frataxin(FXN.) Frataxin is a vital protein whose function is to help the mitochondria produce energy. It is also know that neurological cells in FA patients degenerate over time.
Sister struggling with this rare disease join Gayle Guyardo on Bloom to talk about how the public can help.