Rare Disease Mental Health Issues Are Not Being Addressed

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Source: EURORDIS-Rare Diseases Europe

Rare Disease Day is February 28. Disorders or diseases are considered rare if they affect fewer than 200,000 people in the United States. Although they are individually rare, the experience of having a rare disease is common: Approximately 1 in 10 people in America have a rare disease.

There are about 7,000 different rare diseases, yet people with diverse rare disorders share similar challenges. Many rare disorders are chronic, have no effective treatment, and require complex care. Rare disorders impact quality of life because of poor access to information, treatment, and social support as well as high levels of stigma and isolation. On Rare Disease Day this year, let's advocate for support for these common challenges.

Quality of Life Disparities Between Rare and Common Disorders

In the largest study of adults with rare disorders, we surveyed 1,218 adults living in the U.S. with any kind of rare disorder (Bogart & Irvin, 2017). We assessed quality of life (i.e. anxiety, depression, fatigue, pain, physical function, and social engagement) using the Patient-Reported Outcomes Measurement Information System, which let us compare the quality of life of adults with rare diseases to that of the U.S. population and to Americans with common chronic diseases.

Participants reported waiting nine years on average to receive a correct diagnosis. Overall, participants with rare disorders had poorer quality of life in all domains compared to the general population and compared to people with common chronic diseases like hypertension, arthritis, and asthma.

On average, participants with rare diseases experienced greater anxiety than 75% of Americans, greater depression than 70% of Americans, greater fatigue than 85% of Americans, greater pain than 75% of Americans, lower physical functioning than 85% of Americans, and lower social engagement than 80% of Americans.

Quality of life was also compared across categories of rare diseases. Participants with systematic diseases like Ehlers Danlos syndrome and neurological diseases like narcolepsy or spinocerebellar ataxia reported very poor quality of life. Participants with congenital disorders experienced fewer problems with quality of life than the other groups.

Our study shows that the quality of life needs of people with rare diseases are not being met. There is a significant disparity in quality of life among people with rare disorders compared to the general U.S. population and compared to people with common chronic health conditions. Below, I describe advocacy and policy work that can address this disparity.

Prioritize Psychological Support

Historically, rare disease organizations and researchers have focused on treating or curing one of the 7,000 rare diseases. This focus on medical research is slow-going and limited by extremely small sample sizes. Although this research is important in the long run, we need to give people with rare disorders psychological support now.

Currently, only 5% of rare disorders have an effective biomedical treatment or cure, meaning that most people living with rare diseases today will not receive a treatment or cure in their lifetime. Focusing on the psychosocial concerns shared by so many people with diverse rare diseases—taking a disease-agnostic approach—can benefit all people with rare diseases quickly and inexpensively. Rare disease organizations and funding agencies should include psychological support in their mission statements and funding priorities.

Build a Supportive Community

Two-thirds of people with rare disorders feel they do not get enough support through the healthcare system. People with rare disorders and their families want to meet others with their condition (Huyard, 2009), but most have never done so.

To help people with rare disorders connect with others like them, many rare disease organizations hold support groups or conferences. One such example is the Moebius Syndrome Foundation Conference, which supports people with this facial paralysis disorder. To understand the effects of this conference on quality of life, we surveyed 50 adults with Moebius syndrome who did or didn’t attend the conference one year (Bogart et al., 2017; Bogart & Hemmesch, 2016). Companionship and emotional support were some of the main benefits of attending, with one participant noting that the conference was the “rare place I feel normal” (Bogart et al., 2017). Being surrounded by others who share one’s condition offers a unique opportunity for destigmatizing companionship and emotional support, which normalizes, reduces isolation, and promotes solidarity.

A lack of social support is felt across all types of rare disorders, and cross-disorder solidarity provides strength in numbers. National Organizations for Rare Disorders and Global Genes host conferences for people with any rare disorder can come together, support each other, and learn how to advocate for policies supporting their quality of life.

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Everyone should have access to the rare disease community. However, our research finds that costs are the most significant barrier to connecting with others (Bogart et al., 2017). One of the most impactful and direct ways to help people with rare diseases is to provide grants to fund travel and lodging to meet with others at support groups and conferences, especially for minorities and people with low income, who may need the most support. (During the COVID-19 pandemic, nearly all rare disease in-person events were moved online—this presents a different set of challenges involving access to the internet—grants should be diverted to help people access technology needed to connect virtually.)

Mental Health Professionals Need Rare Disease Training

Although rare diseases affect 10% of Americans, most mental health professionals are not trained to support people who have them. Additionally, there are ableist barriers in education and licensure preventing people with rare and chronic disorders—those who understand these challenges best—from becoming mental health professionals.

Fortunately, there are already evidence-based psychological treatments for some of the quality of life issues found in our research: Cognitive Behavioral Therapy and Acceptance and Commitment Therapy have been shown to reduce depression, anxiety, and pain among people with chronic conditions. These treatments should be tailored to address concerns specific to the rare disorder community, including isolation, stigma, uncertainty, and self-management.

On Rare Disease Day, advocate for psychological support to close the mental health disparity for people with rare disorders.