Those With Rare Diseases Often Face Poor Quality of Life

People with rare diseases are at high risk for experiencing poor quality of life, including increased levels of anxiety, depression, pain, fatigue and a limited ability to participate in society, according to a new study.

“These findings suggest that the quality of life needs of people with rare diseases are not being met and that more work is needed to provide psychosocial support for this group,” said De. Kathleen Bogart, an assistant professor of psychology at Oregon State University. “There is a disparity here and intervention is needed.”

About 350 million people around the world live with at least one rare disease, and there are about 7,000 diseases classified as rare because they affect small numbers of people, the researchers noted. Rare is defined in the U.S. as fewer than 200,000 Americans at one time; in Europe, fewer than 1 in 2,000 people.

The new study is part of a larger, multi-part study, the Adults with Rare Disorders Support project, designed to assess the psychosocial support needs of people with a variety of rare diseases and disorders.

While each disease may have its own set of characteristics and health impacts, researchers have found that people with rare diseases often share similar characteristics and experiences, including little information or treatment, lengthy times to diagnosis, and isolation.

Because of this shared experience, they may also benefit from similar types of psychosocial supports, according to Bogart.

“Even though their diseases are different, their experience is similar,” she said. “There is some benefit to looking at this group collectively, rather than trying to work with each small rare disease group independently.”

For the study, researchers surveyed more than 1,200 U.S. residents with rare diseases, asking them to complete questionnaires about their disease and their quality of life.

The survey group represented 232 rare diseases, including ataxia, Bell’s palsy, Ehlers Danlos syndrome, mast cell disorders, and narcolepsy. Researchers discovered that 13 percent of the group had more than one rare disease.

Compared to a representative sample of U.S. residents, people with rare diseases experienced:

  • worse anxiety than 75 percent of the population;
  • worse depression than 70 percent of the population;
  • worse fatigue than 85 percent of the population;
  • worse pain than 75 percent of the population;
  • worse physical functioning than 85 percent of the population, and;
  • worse ability to participate in society than 80 percent of the population.

Those with rare diseases also had poorer quality of life than U.S. residents with common chronic conditions such as heart disease, diabetes, or arthritis, Bogart said.

“There is something specific about having a ‘rare’ disease that contributes to poorer quality of life,” she said. “Many people struggle with getting an accurate diagnosis, which also can lead to a constant de-legitimization of their experience, with people wondering if it is ‘all in your head.’”

According to the study’s findings, participants waited, on average, nine years before receiving a correct diagnosis.

Study participants with systematic and rheumatic diseases had the poorest quality of life profiles, and those with neurological diseases also had very poor quality of life, according to the study’s findings. People with developmental anomalies experienced fewer quality of life problems than the other groups.

The study’s findings suggest that quality of life issues, such as psychosocial support, should receive more priority from organizations and funding agencies that support people with rare diseases and disorders, Bogart said.

Supporting quality of life is especially important for people living with one of the 95 percent of rare disorders that have no effective treatments, she said.

Including psychosocial support in organizational mission statements, providing psychosocial support through support groups or conferences, and making funding for psychosocial support a priority could help address quality of life issues for people with rare diseases, in part by helping reduce stigma and isolation and improving access to information and treatments, the researchers said.



The study was published in Orphanet Journal of Rare Diseases.

Source: Oregon State University

Posted by Patricia Adams