Poor health-related quality of life can lead to rare diseases

Evaluating the health-related quality of rare diseases


Diseases that affect a smaller number of inhabitants are said to be rare diseases. This is caused due to poor health-related quality of life. And conditions such as anxiety, depression, fatigue, pain interference, and physical function are also associated with a rare disease. People with rare disease mainly faces the inability to perform in social roles and activities performed by normal people.

Study approaching people with rare diseases

People with a rare disease have to face challenges that can be different from more common medical conditions. A vast range of other rare conditions has resulted in many studies investigating the importance of diagnosis in focus. People with a rare disease have to wait frequently for proper diagnosis, travel long distances for specialty care, and face financial issues, which can lead to poor health-related quality of life, low patient satisfaction, and high level of anxiety to overcome these problems suggests a new study.

Kathleen Bogart, one of the lead authors and an associate professor of psychology at Oregon State University, claimed, “A really important area of intervention is ensuring that health care providers must have general knowledge of rare diseases.”

“If a doctor sees a patient who has been seeking a diagnosis for years with no success, that ought to trigger a different approach rather than the doctor sending the patient home with the conclusion that nothing can be done to help them.”

According to the National Institutes of Health, a disease qualifies as “rare” if fewer than 200,000 cases exist in the U.S. The NIH archive 7000 diseases where a single disease is rare on its own, from which 1 in 10 Americans are affected.

Researchers surveyed 1,128 patients with rare diseases and parents of children with rare diseases from across the country. The patients had to answer questions about their process of receiving a diagnosis, how medical providers performed or informed, their knowledge about the disease, their insurance coverage, whether they received proper facilities and stigma they experienced, their daily activities, physical strength, mental strength.

Through another questionnaire, researchers accessed patients’ health-related quality of life, asking about physical function, fatigue, depression, anxiety, sleep, pain, and ability to participate in daily activities.

Statistical Data Analysis

About one-third of participants waited four or more years for a diagnosis, and misdiagnosis was common. 16% of people waited ten or more years to get an accurate diagnosis, while 17% waited between four and nine years.

A subset of participants reported experiencing insurance-related delays or denials for tests, treatments, specialists, or services.

Participants also reported having to see multiple providers to secure that diagnosis:

  • 38% saw two or three providers.
  • 24% saw four or five providers.
  • 5% saw more than 15 providers before being diagnosed.

Nearly half reported traveling more than 60 miles to receive care for their rare disease.

Approximately half of the participants felt their medical and social support was sufficient, yet less than a third had adequate dental and psychological support. Patients were generally neither satisfied nor dissatisfied with their healthcare providers.

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

Bogart hopes to see more states creating rare disease councils, including Oregon.

Journal Reference

  1. Kathleen Bogart, Amanda Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang, Patti Engel & The Chloe Barnes Advisory Council on Rare Diseases, Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet J Rare Dis 17, 196 (2022). DOI: 10.1186/s13023-022-02343-4


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