skip to Main Content

People with rare diseases face many challenges in accessing appropriate medical care, study finds

People with rare diseases often wait years for a correct diagnosis, have to travel long distances for specialized care, and face high healthcare costs, according to a recent study from Oregon State University.

This combination of difficulties 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 concludes.

A major factor in addressing these challenges is the continuing education of healthcare professionals, said Kathleen Bogart, one of the lead authors and an associate professor of psychology at OSU.

A very important area of ​​intervention is to ensure that health care providers have a general knowledge of rare diseases. We don’t expect them to know all 7,000 of them, but we do expect them to know what clues you’re not dealing with a prevalent disease or an easily diagnosed disease .”

Kathleen Bogart, Associate Professor of Psychology, OSU

If a doctor sees a patient who has been seeking a diagnosis for years without success, that should trigger a different approach, she said -; rather than the doctor sending the patient home with the conclusion that nothing can be done to help.

According to the National Institutes of Health, a disease is considered “rare” if there are fewer than 200,000 cases in the United States. The NIH lists about 7,000 diseases that meet this qualification, and while each disease is rare on its own, in total they affect about 1 in 10 Americans.

For the study, researchers interviewed 1,128 rare disease patients and parents of children with rare diseases across the country. Participants answered questions about their process of receiving a diagnosis, how informed they felt about their medical providers, their own knowledge of their disease, their insurance coverage, whether they felt sufficiently supported in their daily lives and what type of stigma they experienced.

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 activities. daily.

The time between symptom onset and diagnosis was one of the most striking findings: 16% of people waited 10 years or more for an accurate diagnosis, while 17% waited between four and nine years.

Participants also reported having to see multiple providers to get this diagnosis: 38% saw two or three providers, 24% saw four or five providers, and 5% saw more than 15 providers before being diagnosed. Almost half said they traveled more than 60 miles to receive care for their rare condition.

Patients generally had much lower ratings for their original provider than for the provider who was able to diagnose them correctly, often stating that they did not think their original provider was willing to research different possible illnesses or ask for other providers for diagnostic assistance.

The study also asked patients about access to dental and mental health care. Although most respondents felt their medical support was adequate after receiving a diagnosis, they reported insufficient dental and mental support. Rare diseases often require specialized dental care that is hard to find; and mental health providers rarely receive training on rare diseases, Bogart said.

The study began with a collaboration with the Minnesota State Chloe Barnes Advisory Council on Rare Diseases, which was established to work on legislative policies addressing factors such as insurance coverage and provider training. .

Bogart 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, as well as creating resources for providers to guide them through rare diagnoses.


Journal reference:

Bogart, K. et al. (2022) Access to health care, satisfaction and health-related quality of life in children and adults with rare diseases. Orphanet review of rare diseases.

Back To Top