People with rare diseases often wait years for a proper diagnosis, have to travel long distances for specialized 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 health care leads to poor health-related quality of life, low patient satisfaction and high levels of anxiety, depression and stigma, the study concluded.
A key factor in tackling these challenges is the continuing education of medical professionals, said Kathleen Bogart, one of the leading authors and associate professor of psychology at OSU.
“A really important area of intervention is to ensure that healthcare providers have a common knowledge of rare diseases,” Bogart said. “We don’t expect them to know all 7,000 of them, but we do expect some to know that you are not dealing with a prevalent condition or a condition that is easily diagnosed.”
If a doctor sees a patient who has been trying to diagnose for years without success, it should lead to a different approach, she said – instead of sending the patient home with the conclusion that nothing can be done to help them.
According to the National Institutes of Health (NIH), the disease is classified as “rare” if there are fewer than 200,000 cases in the United States. , in total, they affect approximately 1 in 10 Americans.
For the study, researchers surveyed 1,128 patients with rare diseases and parents of children with rare diseases across the country. Participants answered questions about their diagnosis process, how informed they thought their health care providers were, their own knowledge of their illness, their insurance coverage, whether they felt adequately supported in their daily lives and what kind of stigma they had experienced.
Researchers also included a questionnaire to assess patients’ health-related quality of life, asking about physical function, fatigue, depression, anxiety, sleep, pain and the ability to participate in daily activities.
The time between the onset of symptoms and the diagnosis is one of the most impressive results:
16% of people waited 10 or more years to receive an accurate diagnosis, while 17% waited between four and nine years.
Participants also reported that they needed to see multiple providers to provide this diagnosis:
- 38% saw two or three suppliers.
- 24% saw four or five suppliers.
- 5% saw more than 15 providers before being diagnosed.
Nearly half reported traveling more than 60 miles to care for their rare disease.
Patients have generally had much lower scores for their primary provider than for a provider who has been able to diagnose them correctly, often stating that they do not think their primary provider is willing to investigate various possible diseases or ask other providers for help with diagnosis.
The study also asked patients about access to dental and mental care. While most respondents felt that their medical support was adequate after receiving the diagnosis, they reported insufficient support for dental and mental health. Rare diseases often require specialized dental care, which is difficult to find; and mental health providers rarely receive training on rare diseases, Bogart said.
The study began in collaboration with Chloe Barnes, Minnesota’s Rare Diseases Advisory Board, which was created to work on legislative policies addressing factors such as insurance coverage and provider education.
Bogart said he hopes to see more states setting up councils for rare diseases, including Oregon. The Council is working to learn more about the biggest challenges facing patients with rare diseases, together with building resources for providers to help guide them through rare diagnoses.