A very interesting study from Kate Bushby and colleagues
While rare genetic diseases are by definition individually uncommon, they represent a enormous global health burden.
In the European Union alone an estimated 30 million people are affected by a rare disease with a prevalence of less than 1 in 2,000. Rare connective tissue diseases have an overall prevalence estimated at 1/2,000, while musculoskeletal disease in general have an overall prevalence of 1/130 newborns, reflecting their great diversity.
Many inherited connective tissue diseases are congenital, chronic, life threatening and associated with substantial morbidity, extensive and expensive heath care needs and considerable physiological stress and financial burden for affected families.
While the cost burden of rare connective tissue diseases in terms of illness and economic load is not known this recent study of Duchenne Muscular Dystrophy, with a prevalence of ~1 in 5,000, reported that the mean per-patient annual direct cost of illness was estimated at between 7 to 16 times higher than the mean per-capita health expenditure. Moreover, the indirect and informal costs, along with total societal and household burden, was even higher and increased substantially with disease progression.
Download the open access paper here.