Kathleen Bogart, Director of the Disability and Social Interaction Lab at Oregon State University, led the first large-scale survey of adults living in the U.S. with any rare disease. Bogart was born with Moebius syndrome, a rare neurological disorder that is characterized by facial paralysis. (Photo/Oregon State University)
The struggle against a rare disease can often be an isolating one. People with uncommon conditions can wait years for the right diagnosis, and once they have it, they may not know anyone with the same disease. These factors and others are cited by the researchers behind a recent study that found those with rare diseases have more anxiety, depression, pain, fatigue and a poorer quality of life than most people, including those with common chronic health conditions, and are in need of stronger psychological and social support.
On average, people with rare diseases experience worse anxiety than three-quarters of Americans, according to the study published in the Orphanet Journal of Rare Diseases in December. Another statistic shows that rare disease patients are less able to participate in society than 80 percent of Americans. A rare disease is defined in the U.S. as one that affects fewer than 200,000 Americans at any given time.
The study was led by Kathleen Bogart, Director of the Disability and Social Interaction Lab at Oregon State University. As someone with a rare disease herself, she said the results were more or less what she expected.
“I come at it from a researcher’s standpoint,” she said. “But I also really understand from personal experience how challenging rare disorders can be and how much social support and other kinds of support can really benefit people.”
Bogart was born with Moebius syndrome, a rare neurological disorder that is characterized by facial paralysis. The condition led to her interest in researching issues surrounding rare diseases. Her study is billed as the first large-scale survey of adults living in the U.S. with any rare disease.
Neither Bogart, nor her research, have any affiliation with CSL Behring.
The more than 1,200 people surveyed reported an average 9-year wait for a correct diagnosis. The study revealed a correlation that suggests the uncertainty before an accurate diagnosis can affect a person’s overall health. People who had their diagnosis longer had a better quality of life, Bogart said.
“The diagnosis is really your gateway to getting answers, maybe connecting with other people with the condition,” Bogart said.
Making those connections with people with the same disease can be a key step in improving quality of life, but also a difficult one to take. By the nature of rare diseases, patients are unlikely to be able to connect with another person with the condition nearby.
“Even though people with rare disorders may want to meet others, the majority of people have never met anyone else with their condition,” Bogart said.
To rectify that, Bogart suggests those with rare diseases connect with organizations that support and advocate for people with their specific condition. Many of these organizations sponsor gatherings aimed at bringing people together who are fighting the same battle and Bogart has found from personal experience that meeting others like you can be “powerful.”
Some U.S.-based organizations that work to bring people together include the National Hemophilia Foundation, the U.S. Hereditary Angioedema Association and the Alpha 1 Foundation. In addition, CSL Behring hosts gatherings like the Junior National Championship, a sports competition for children with bleeding disorders, and its Walk for Breath event which brings together Alpha-1 patients.
Bogart is planning further research to determine what additional support would most benefit those with rare diseases. But she said the need for psychological and social issues to be better addressed is clear.
“It’s not just physical things that are challenging to people,” she said. “It’s also these more psychosocial factors like anxiety and depression and sleep and ability to participate in social roles.”
