The study found that poor quality of life associated with health, many burdens in rare diseases

People with rare diseases experience significant diagnostic delays, out-of-pocket costs, a travel burden for specialized care, and inadequate dental and psychological support, according to the new findings.

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

There are over 7,000 rare diseases, and they all have many things in common; Most are chronic, genetic, and involve multiple body systems and disciplines, and few have effective treatments or treatments.

Given these commonalities, the study of factors such as health care access and satisfaction, and health-related quality of life among many different RDs collectively could provide insight into how to address these challenges with broad health care policy and psychological support and social.”

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

The study showed that some participants experienced significant delays in diagnosis, in line with previous research. Nearly a third of the participants waited 4 years or more for a diagnosis (11% waited 4-6 years, 6% waited 7-9 years, 16% waited another 10 years).

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

The study found that about half of the participants also reported misdiagnosis during their diagnostic supplement.

Most of the participants had at least one type of health insurance. However, even with insurance, nearly a quarter of the sample paid $3,000 or more of their own money to cover health care expenses.

Participants’ experience with health insurance varied, with some reports of insurance-related delays or refusals for tests, treatments, and appointments.

Only 37% of patients reported having accessed a specialized center of care; Most participants (54%) reported having one or two specialists providing care for RD.

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

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

The HRQOL results showed that not only adults, but also children with a rare disease have HRQOL poverty.

Stigma, fatigue, decreased ability to participate in social roles, disturbed sleep, and the absence of a stable disease course were associated with anxiety and depression for adults, extending previous findings.

Results from the Shortened Patient Satisfaction Model indicated that participants were generally not satisfied with other providers, who may have less knowledge and awareness of rare cases than specialists.

Participants were also less likely to report that information from their general or primary care physician was adequate, compared to specialists.

Kathleen Bogart, PhD, MA, BA, lead author and assistant professor of psychology at Oregon State University, “One of the really important areas of intervention is making sure that health care providers have a general knowledge of rare diseases.” He said in a statement. “We don’t expect them to know all seven thousand, but we do expect them to know some of the signs that you’re not dealing with a prevalent condition or an easily diagnosable condition.”

The authors acknowledge the limitations of their study, noting that it is difficult to know how representative this sample is of the greater number of people diagnosed with RD in the United States.

Additionally, although participants were instructed to consider their experiences prior to COVID-19 when answering survey questions, it is likely that the results were affected by the pandemic anyway.

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

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


Bogart, K.; Himesh, A. Barnes, E. et al. Health care 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