There are thousands of rare diseases and it can be a frustrating, expensive challenge for people to get the proper diagnosis and treatment, especially in rural states like Iowa.
Nicole Boice is the founder of Global Genes, an advocacy group for people with rare illnesses. Boice says their new survey finds many patients are usually sent from one doctor to the next.
“It takes, on average, seven years for a patient to actually receive a proper diagnosis,” Boice says. “While they’re on that seven-year journey, they typically see up to eight different physicians and they are misdiagnosed two to three times.”
She says some Iowans who live in remote areas have to travel long distances to see a specialist to get the tests or the treatment they need.
“You’re tested, you’re re-tested, it’s very trying financially for these families,” Boice says. “From this survey, we’ve seen that about 40% of the patients have had to borrow money from family or friends to pay for their health care and over half have had to dip into their savings. There’s a tremendous amount of medical bankruptcy within the rare disease community.”
Rare diseases affect about one in ten Americans so Boice says it’s likely everyone knows someone suffering from such an illness. Some of the diseases are more well-known, like cystic fibrosis or muscular dystrophy.
The report also shows 92% of physicians report they find it difficult to address the needs of rare disease patients in a typical office visit. More than 7,000 distinct rare diseases exist and about 80% are caused by faulty genes.
The National Institutes of Health estimates 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.