People living with rare diseases are at higher risk of experiencing a poor quality of life, such as increased levels of anxiety, depression, pain and fatigue.
"These findings suggest that quality of life needs people with rare diseases are not meeting the diseases and more work is needed to provide psychosocial support to this group," said Bogart, of Oregon State University, whose work is focuses on the psychosocial implications of disability. "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 some 7,000 diseases classified as rare because they affect a small number of people.
Although each disease can have its own set of characteristics and impacts on health, researchers have found that people with rare diseases often share similar characteristics and experiences, including little information or treatment, long times for diagnosis and treatment. isolation. Because of this shared experience, they can also benefit from similar types of psychosocial supports, Bogart said.
"Even though their diseases are different, their experience is similar," said Bogart. "There is some benefit in looking collectively at this group, rather than trying to work with each small group of rare diseases independently."
For the study, researchers surveyed more than 1,200 US residents with rare diseases, asking them to complete questionnaires about their illness and their quality of life.
The study group represented 232 different rare diseases, including ataxia, Bell's palsy, Ehlers Danlos syndrome, mast cell disorders and narcolepsy, and 13 percent of the group had more than one rare disease. The researchers also found that study participants waited an average of nine years before receiving a correct diagnosis.
Compared to a representative sample of US 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.
"There is something specific about having a rare disease that contributes to a poorer quality of life," he said. "Many people struggle to get an accurate diagnosis, which can also lead to a constant delegitimization of their experience, and people wonder if it's all in your head".
Study participants with systematic and rheumatic diseases had the poorest quality of life profiles, and those with neurological diseases also had a very poor quality of life. People with developmental anomalies experienced fewer quality of life problems than the other groups.
The findings suggest that quality of life issues such as psychosocial support should receive higher priority from organizations and funding agencies that support people with rare diseases and disorders, said Bogart. Supporting quality of life is especially important for people who live with one of the 95 percent of rare disorders that do not have effective treatments.
Including psychosocial support in organizational mission statements, providing psychosocial support through support groups or conferences and raising funds 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 improve access to information and treatments.
"Some people with rare diseases can never meet another person with that disease," Bogart said. "That can be very insulating, conferences are a way to share experiences among people with similar experiences, it helps them feel connected, normalized and validated."
People with rare diseases who have poor quality of life should also seek support. of a mental health professional, a group of rare diseases and / or couples with rare disorders, he said.
The findings were published in the Orphanet Journal of Rare Diseases.
