Rare diseases - bringing it all together
LIKE most parents, Deborah Robins hopes to die before her children. But as the mother of a 23-year-old man with Duchenne muscular dystrophy (DMD), her wish is unlikely to be granted.
A rare disease that strikes one in 3300 boys, DMD is linked to mutations in the dystrophin gene, which cause the gradual replacement of muscle tissue with fibrosis and fat.
Patients are generally unable to walk by 12, suffer joint contractures, cardiomyopathy and respiratory insufficiency in early adulthood, and die, on average, at 25 years of age.Ms Robins believes