Study reveals individuals suffering from rare diseases have poor health-related life quality

According to a new study, people with rare diseases typically have to wait years for a thorough diagnosis, must frequently travel vast distances for specialty treatment, and suffer substantial out-of-pocket health care costs.

According to the findings of an Oregon State University research, these obstacles result in poor health-related quality of life, low patient satisfaction, and high levels of anxiety, sadness, and stigma. The continual education of medical personnel is a crucial role in tackling these difficulties, according to Kathleen Bogart, one of the primary authors and an associate professor of psychology at OSU.

“A really important area of intervention is ensuring that health care providers have a general knowledge of rare diseases,” Bogart said. “We’re not expecting them to know all 7,000 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.”

If a doctor meets a patient who has been seeking a diagnosis for years with no success, she believes the doctor should take a new strategy, rather than sending the patient home with the conclusion that nothing can be done to help them.

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Rare Health Conditions

A illness is considered “rare” if there are less than 200,000 cases of it in the United States, according to the National Institutes of Health. The NIH lists roughly 7,000 diseases that fulfil this criteria, and while each condition is uncommon on its own, they impact around one in every ten Americans.

Researchers contacted 1,128 patients with rare diseases and parents of children with uncommon diseases from around the country for the study. Participants were asked about their diagnosis process, how educated they thought their medical professionals were, their own understanding about their condition, their insurance coverage, if they felt appropriately supported in their everyday lives, and what sort of stigma they faced.

A questionnaire was also added to measure patients’ health-related quality of life, with questions regarding physical function, weariness, sadness, anxiety, sleep, pain, and capacity to engage in everyday activities.

One of the most remarkable findings was the period between the beginning of symptoms and diagnosis: 16% of persons waited 10 years or more for a correct diagnosis, while 17% waited between four and nine years.

Participants also reported seeing many physicians before being diagnosed: 38 percent saw two or three providers, 24 percent saw four or five providers, and 5 percent saw more than 15 clinicians. Almost half of those polled said they had to travel more than 60 miles to get treatment for a rare ailment.

Patients rated their original physician far worse than the provider who was able to accurately identify them, frequently saying that they did not believe their initial provider was willing to explore several possible conditions or approach other clinicians for aid in diagnosing.

 

The research also inquired about individuals’ access to dental and mental health treatment. While the majority of respondents reported adequate medical help after getting a diagnosis, many reported insufficient dental and mental health support. Uncommon disorders sometimes need specialist dental treatment, which is difficult to come by, and mental health doctors seldom receive training on rare conditions, according to Bogart.

The research started as a cooperation with the Minnesota State Chloe Barnes Advisory Council on Rare Diseases, which was formed to focus on legislative policy addressing issues such as insurance coverage and provider education.

Bogart hopes that additional states, including Oregon, will establish rare illness councils. The council is striving to learn more about the major problems that patients with rare diseases face, as well as to provide tools for doctors to help them navigate unusual diagnosis.

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