Just before midnight on February 28th, Rare Disease Day, I read the news that the Federal Drug Administration (FDA) in the US had just approved the first ever treatment for my rare disease, Friedreich’s ataxia (FA).
Friedreich’s ataxia is a rare neuromuscular disorder that progressively takes away mobility and motor skills. Some FA patients also develop other conditions, such as scoliosis, heart disease and diabetes, but not every person with FA will experience the disease in the same way. Friedreich’s ataxia is an extremely rare genetic disease; including myself and my brother, just about 200 people in Ireland have FA, but this number is an estimation because there is no nationwide register.
Although the drug has now been approved in the US, it has to go through separate approval processes in Europe, of course, and then finally in Ireland. But the FDA approval of this drug, omaveloxolone, is still a monumental step in the right direction.