Dive Brief:
- Duchenne Muscular Dystrophy (DMD) is a genetic disorder that almost always affects boys, but Global Genes reports that Susie Arroyo is a young woman with DMD. The odds of that? One in 50 million.
- Like other patients with DMD, which weakens muscles until they are useless and leaves those affected in wheelchairs, Arroyo started experiencing symptoms in childhood. She is now in a wheelchair.
- Currently, there are two drugs in development for treatment of DMD, including eteplirsen from Sarepta Therapeutics and drisapersen from Biomarin.
Dive Insight:
As a young woman with DMD, Susie Arroyo is very rare. Her odds of having DMD were 1 in 50 million, compared with 1 in 3,500 for a young man. Thus far, Arroyo has been unable to get into clinical trials. But she is aware of the progress that Sarepta has recenty made in moving forward with the FDA and hopes to benefit from the therapy.
Arroyo is excited for the boys with DMD who have been treated with eteplirsen in clinical trials. She notes that some of those boys have maintained their health and even regained function. Meanwhile, Arroyo has faced degeneration year after year, damage that she says cannot be undone.
In 2013, she had a special pump inserted in her chest, which gave her some relief and has helped her to continue to pursue her noteworthy accomplishments, including graduating from Blue Mountain Community College in 2012. She is also en route to graduating from Eastern Oregon University with a teaching degree next spring.
For now, Arroyo, who has written to Congress asking for an accelerated approval pathway for DMD treatments, is waiting for a cure with a great deal of courage and optimism.