People Living With a Rare Disease Need Better Healthcare


Although many people in the United States face challenges when seeking healthcare services, new research has found that when seeking a diagnosis for a rare disease, the situation is magnified.

The definition of a rare disease is a disorder that affects under 200,000 individuals living in the U.S. There are currently over seven thousand rare diseases affecting one in every ten U.S. residents.

Psychology Today recently published an article featuring the largest survey taken to date of access to healthcare and quality of life. The study was conducted through the Chloe Barnes Advisory Council of the State of Minnesota.

The Council was founded by Erica Barnes, a rare disease advocate, and generously funded through the Minnesota state legislature. The subjects were adults and children in the U.S. with rare diseases.

Only twenty-four U.S. states, including Minnesota, maintain such councils. The councils are responsible for connecting policymakers with caregivers, patients, providers of healthcare, and insurers.

The survey included 1,128 caregivers and other adults with 344 rare disorders. The disorders mentioned most often were Ehlers-Danlos syndrome, narcolepsy, spinocerebellar ataxia, idiopathic hypersomnia, and primary biliary cholangitis. Most people who participated in the survey said that they waited at least four years for a diagnosis. Twenty-five percent had seen at least six doctors before receiving a correct diagnosis. There is no doubt that this is difficult, not only for the patient, but also for their families.

The other difficulty for patients with rare diseases involves extensive traveling. Doctors specializing in rare diseases are difficult to find. Many people must travel out of state only to be turned away without a diagnosis. Nearly half the people in the study said they must travel over sixty miles for treatment.

About Insurance

Most study participants reported having health insurance, yet even with coverage, about twenty-five percent of respondents were responsible for a minimum of $3,000.

Fifteen to twenty percent reported being either denied coverage or experienced extensive delays prior to receiving medication.

Seventy-five percent of the participants found they were not covered by psychological or dental insurance. Half the respondents mentioned that the support of social workers was not always available.

People who are suffering from an unknown disorder carry not only the heavy burden of the disease and feelings of isolation but also the anxiety and depression that accompany their search for a diagnosis.

Advisory councils, such as the Chloe Barnes Council, help by connecting people who have rare diseases. Working together in a group to promote change creates many mental and physical health benefits.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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