Poor Health-Related Quality of Life, Many Burdens in Rare Diseases, Study Finds

People with rare diseases experience significant diagnostic delays, high out-of-pocket costs, travel burden for specialty care, and insufficient dental and psychological support, according to new findings.

People in the United States with rare diseases have poor health-related quality of life (HRQOL) and high stigma related to patient satisfaction and health care access, consistent with previous research, according to a recent study published in Orphanet Journal of Rare Diseases.

There are more than 7000 rare disease, and they all have many things in common; most are chronic, genetic, involve multiple body systems and specialties, and few have effective treatments or cures.

“Given these commonalities, examining factors like healthcare access and satisfaction, and health-related quality of life among many different RDs collectively can provide insight into how to address these challenges through broad healthcare policy and psychosocial support,” wrote the authors.

A large-scale online survey of 1128 adults with rare disease or parents or caregivers of children with these conditions, representing 344 different disease, was conducted to evaluate their experiences and identify similarities.

The study showed that some participants experienced significant diagnostic delay, in line with previous research. Approximately one-third of participants waited 4 or more years for a diagnosis (11% waited 4–6 years, 6% waited 7–9 years, and 16% waited 10 more years).

Nearly a quarter of participants saw 6 or more doctors to receive a diagnosis, and only 16% or participants only saw 1 provider.

About half of participants also reported misdiagnosis during their diagnostic odyssey, the study found.

Most participants had at least 1 type of health insurance. However, even with insurance, approximately a quarter of the sample paid $3000 or more out-of-pocket for healthcare expenses.

Participant experience with health insurance varied, with some reporting insurance-related delays or denials for tests, treatments, and appointments.

Only 37% of patients reporting accessing a specialist center for care; most participants (54%) reported having 1 or 2 specialists who provide care for RD.

Nearly half of participants (47%) reported travelling at least 60 miles for care, and many (58%) reported using telehealth services for appointments with specialists, possibly to alleviate travel burdens.

Although about half of participants felt their medical and social support was sufficient (59% and 49%, respectively), a minority of participants reported sufficient dental support (39%) and psychological support (31%).

HRQOL findings showed that not only adults, but also children with rare disease had significantly poorer HRQOL.

Stigma, fatigue, lower ability to participate in social roles, sleep disturbance, and not having a stable disease course were associated with anxiety and depression for adults, extending previous findings.

Findings from the Patient Satisfaction Short Form suggested that participants were generally not satisfied with their other providers, who may have less knowledge and awareness of rare conditions compared with specialists.

Participants were also less likely to report that the information received from their general or primary care doctor was sufficient, compared with specialists.

“A really important area of intervention is ensuring that health care providers have a general knowledge of rare diseases,” Kathleen Bogart, PhD, MA, BS, lead author and associate professor of psychology at Oregon State University, said in a statement. “We’re not expecting them to know all 7000 of them, but we’re expecting them to know some of what the clues are that you’re not dealing with a prevalent condition or a condition that’s easily diagnosed.”

The authors acknowledged limitations of their study, noting that it is difficult to know how representative this sample is of the larger population of people diagnosed with RDs in the United States.

Additionally, although participants were instructed to consider their experiences before COVID-19 when answering survey questions, results are likely to have been influenced by the pandemic anyway.

Finally, despite efforts to validate proxy reports (eg, from parents, relatives, or caregivers), responses may not accurately represent the experiences of participants with RD.

However, the authors assert that, despite the limitations, the study is one of the largest examining health care access and HRQOL among people with rare disease conducted in the United States to learn more about the impact on HRQOL.


Bogart, K., Hemmesch, A., Barnes, E. et al. Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet J Rare Dis. Published online May 12, 2022. doi:10.1186/s13023-022-02343-4