People with rare diseases often wait years for a correct diagnosis, have to travel long distances for specialist care, and face high out-of-pocket health care costs, a recent study from Oregon State University found.
This combination of challenges in accessing appropriate medical care leads to poor health-related quality of life, low patient satisfaction, and high levels of anxiety, depression and stigma, the study concluded.
This combination of challenges in accessing appropriate medical care leads to poor health-related quality of life, low patient satisfaction, and high levels of anxiety, depression and stigma, the study concluded.
An important factor in addressing these challenges is the continuing education of medical professionals, said Kathleen Bogart, a lead author and associate professor of psychology at OSU.
“A really important area of action is ensuring that healthcare professionals have a general understanding of rare diseases,” said Bogart. “We don’t expect them to know all 7,000, but we do expect them to know some of the clues that indicate that you are not dealing with a prevalent or easily diagnosed condition.”
If a doctor sees a patient who has been seeking a diagnosis for years without success, that should trigger a different approach, he said, rather than the doctor sending the patient home with the conclusion that nothing can be done to help him.
According to the National Institutes of Health (NIH), a disease qualifies as “rare” if there are fewer than 200,000 cases in the U.S. The NIH lists approximately 7,000 diseases that meet this qualification, and although each disease is rare in itself, in total they affect about 1 in 10 Americans.
For the study, the researchers interviewed 1,128 rare disease patients and parents of children with rare diseases from across the country. Participants answered questions about their process of receiving a diagnosis, how knowledgeable their medical service providers felt, their knowledge of their disease, their insurance coverage, whether they felt adequately supported in their daily lives, and that kind of stigma they suffered.
The researchers also included a questionnaire to assess patients’ health-related quality of life, asking about physical function, fatigue, depression, anxiety, sleep, pain, and ability to participate in daily activities.
The time between symptom onset and diagnosis was one of the most surprising results:
16% of people waited 10 or more years to get an accurate diagnosis, while 17% waited between four and nine years.
Participants also reported having to consult with multiple vendors to ensure that diagnosis:
- 38% saw two or three suppliers.
- 24% saw four or five suppliers.
- 5% saw more than 15 providers before diagnosis.
Nearly half reported traveling more than 60 miles to receive treatment for their rare disease.
Patients generally had much lower ratings for their initial provider than the one who was able to correctly diagnose them, often reporting that they did not feel their initial provider was willing to research several possible diseases or seek help from other providers for diagnosis. .
The study also asked patients for access to dental and mental health care. Although most respondents felt their medical support was sufficient after receiving a diagnosis, they reported insufficient dental and mental support. Rare diseases often require specialized dental care that is difficult to find; and mental health workers rarely receive training on rare diseases, Bogart said.
The study began as a collaboration with the Minnesota State Chloe Barnes Advisory Council on Rare Diseases, which was set up to work on legislative policies that address factors such as insurance coverage and provider education.
Bogart said he hopes to see more states create rare disease councils, including Oregon. The board is working to learn more about the major challenges facing rare disease patients, along with creating resources for providers to help guide them through rare diagnoses.