People with rare diseases often wait years to get a proper diagnosis, have to travel long distances for specialty care, and face high out-of-pocket health care costs, a recent study from Oregon State University found.
This combination of challenges in obtaining 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, one of the lead authors and associate professor of psychology at OSU.
“It is a very important area of intervention to ensure that health care providers have a general understanding of rare diseases,” Bogart said. “We don’t expect to know all of these 7,000, but we hope to know what some of the clues are that you are not with a major disease or an easily diagnosed disease.”
If the doctor sees a patient who has been looking for a diagnosis for many years without success, this should lead to a different approach, he said, to help the doctor send the patient home with the conclusion that nothing can be done to help.
According to the National Institutes of Health (NIH), a disease is classified as “rare” if there are less than 200,000 cases in the US. , affecting about 1 in 10 Americans in total.
For the study, researchers surveyed 1,128 patients with rare diseases across the country and parents of children with rare diseases. Participants were asked questions about the process of receiving a diagnosis, how well they were informed by medical providers, their own knowledge about the disease, their insurance coverage, whether they felt adequately supported in daily life, and what stigma they suffered.
The researchers also included a questionnaire to assess patients ’health-related quality of life, asking about their physical activity, fatigue, depression, anxiety, sleep, pain, and ability to participate in daily activities.
One of the most striking results was the time between symptoms and diagnosis:
16% of people waited 10 years or more to get an accurate diagnosis, and 17% waited between four and nine years.
Participants also reported that they should see several providers to ensure this diagnosis:
- 38% saw two or three providers.
- 24% saw four or five suppliers.
- 5% saw more than 15 providers before being diagnosed.
Nearly half reported traveling more than 60 miles to receive care for a rare disease.
Patients generally had much lower ratings than the provider who was able to properly diagnose the initial provider, often reporting that they did not think the initial provider was willing to investigate various possible diseases or seek help from other providers to diagnose them.
The study also asked patients about access to dental and mental health care. Although most respondents believed that medical care was adequate after receiving a diagnosis, they reported insufficient dental and mental health care. Rare diseases often require specialized dental care; and mental health providers rarely receive training on rare diseases, Bogart said.
The research began in collaboration with the Minnesota Chloe Barnes Advisory Board on Rare Diseases, which was created to work on legislative policies to address factors such as insurance coverage and provider education.
Bogart said he hopes to see more states create rare disease councils, including Oregon. The council is working to learn more about the biggest challenges facing patients with rare diseases, along with building resources for providers to help guide them in rare diagnoses.