Support and advocacy groups could significantly increase quality of life for people living with rare diseases by focusing on psychosocial support.
That’s according to a recent study that found people with a rare disease had significantly worse health-related quality of life than the general population and those living with common long-term conditions such as heart disease, diabetes or arthritis.
Between 25 and 30 million Americans are living with one of around 7,000 distinct rare diseases. Despite these conditions having different causes and symptoms, they share certain characteristics. These include their long-term nature, their requirement for complex care and the lack of treatment options. People living with rare diseases, then, face similar health-related quality of life challenges, yet most studies in this area look at single rare diseases in isolation.
The study is based on a questionnaire of 1,218 adults living with a rare disease in the USA. Respondents were recruited by the National Organization for Rare Disorders (NORD) and 242 of its member rare disease support organizations, as well as the Coordination of Rare Diseases at Sanford (CoRDS) patient registry.
Health-related quality of life was measured across physical, mental and social health, and participants were asked about six elements of living with a rare disease. These were anxiety, depression, fatigue, pain interference, physical function and ability to take part in social roles and activities.
Information on age, gender, race, income, country of residence, number of rare diseases, rare disease name, duration of symptoms and years since diagnosis were also collected.
Among the 1,218 people whose data were analyzed, 232 rare diseases were represented. The average diagnostic delay was nine years.
The researchers found people who had more than one rare disease and women suffered greater fatigue, pain, anxiety and depression scores. These groups were less able to participate in social roles and activities and had less physical function.
Those who had been diagnosed for the longest tended to have lower fatigue, depression and anxiety scores, and were better able to take part in social roles and activities. This was despite having lower physical function.
Higher income was associated with lower fatigue, pain, anxiety and depression, as well as better physical function and a higher ability to participate.
Survey respondents had poorer average health-related quality of life on all outcome measures than the general population and people with long-term conditions.
The study suggests that receiving a diagnosis is a gateway to treatment and support that can help
to alleviate the challenges of living with a rare disease over time.
“As most individuals with rare diseases will not be cured in their lifetimes, identifying ways to improve health-related quality of life is of the utmost importance to patient-centered care,” said the study authors.
“For these reasons, we recommend that rare disease health-related quality of life should be included in mission statement and funding priorities of health agencies and rare disease organizations.”
“The beauty of these quality of life of findings is that they are not disease-specific. There are already umbrella groups that can provide this kind of support to people with rare diseases, regardless of their individual diseases,” added study lead, Professor Kathleen Bogart.
Bogart KR, Irvin VL. Health-related quality of life among adults with diverse rare disorders. Orphanet J Rare Dis 2017; 12:177.