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  • Writer's pictureThe Rare360 Editorial Team

Rare Diseases, Mental Health Issues, and What We Can Do About It

A digital drawing with a person wearing a red top and dark shaded pants standing in the middle of an extended corridor, with their back to the viewer. The walls of the corridor are cut out in the shape of a human head. The corridor that is closest is darkest and it extends into the distance, beyond the person standing in the middle of the image. The corridor gets lighter, signifying an opening far into the distance.

May is Mental Health Awareness Month, a time when advocates and activists work to increase awareness and continue to break down stigmas associated with mental health and wellness. Even though speaking about one’s mental health has been historically stigmatized, we have seen discussions surrounding mental health concerns skyrocket since the COVID-19 pandemic began. While Mental Health Awareness Month provides everyone with the opportunity to discuss the importance of taking care of our emotional well-being and the value of seeking assistance and support, it is crucial to recognize that people living with a rare disease and/or disability often experience a variety of social and physical factors, from the onset of symptoms, that are often beyond their control throughout the year.

Rare Disease & Mental Health Statistics

  • According to rare disease community-based experts, around 360 million people worldwide are diagnosed with at least one rare disease.

  • According to the Australian Health Authorities, more than 7,000 rare diseases are life-threatening or chronically debilitating.

  • A recent study found that adults with disabilities report experiencing frequent mental distress, almost five times as often as adults without disabilities.

  • According to the CDC, frequent mental distress refers to “poor health behaviors, increased use of health services, mental disorders, chronic disease, and limitations in daily life.”

From anxiety, stress, and depressed mood to emotional exhaustion and suicidal thoughts, the impact of a chronic debilitating rare disease can impact a person’s ability to leave their home at will. For those who do manage to leave their home, mobility issues and practical difficulties can make certain activities inaccessible. Advocates and activists across the rare disease community are calling on academics, researchers, and scientists to focus more on studies that aim to understand and document the mental health impact of living with a rare debilitating disease. Simultaneously, rare disease lived-experience activists are calling on various pharmaceutical companies to develop programs that aim to support the improvement of overall mental health for people diagnosed with rare diseases.

Allocating Resources To Programs That Matter To The Community

In 2015, when the FDA launched its patient-focused drug development initiative [5], it ignited the great shift towards “patient-centricity” across the biotechnology and pharmaceutical industries. During this great shift, most mid to large-sized pharmaceutical companies integrated advocacy departments and dedicated personnel into their corporate infrastructure. One of the main goals of this patient-focused shift was to place patients at the center of healthcare and therapeutic development. While noble in thought, the resulting outcomes have been less than meaningful for both the pharmaceutical industry and patient communities. One of the more popular outcomes that have resulted from the integration of industry-based advocacy professionals is the commissioning of industry-based awareness and storytelling campaigns. According to community-based leaders of the Rare Advocacy Movement, a trend in patient advocates and community-based activists are expressing a strong preference for pharmaceutical companies to redirect resources - from industry-based advocacy blogs, landing pages, and story-telling campaigns - towards the development of meaningful community-based and family-support programs like mental health and wellness campaigns, patient assistance programs, and more.

 “While disease-specific awareness campaigns are great, most of the people in our communities care more about how they are going to be able to afford their medications, gain access to mobility devices, and enroll in programs that address their mental health,” says Heather Shorten of Pompe Alliance.

While it’s important for pharmaceutical companies to continue their support of advocacy-based and community-based awareness and story-telling projects, dedicating already limited resources to commission the development of industry-based advocacy-focused landing pages and marketing campaigns has positioned several pharmaceutical companies as out-of-touch and wasteful from the perspective of several patient and carer communities.

According to Nadia Bodkin, founder of the Rare Advocacy Movement, “One of several learnings that arose from a 2022 virtual roundtable session hosted by the “Our Lives Matter” Diversity, Equity, Inclusion (OLM DEI) initiative, is the finding that most rare disease patients, caregivers, and care partners reported feeling that it is not appropriate for pharmaceutical companies to host industry-based advocacy landing pages because it is not industry’s place to direct patient advocacy and community-based messaging.” Instead, one of the most popular suggestions for where the industry should consider focusing its efforts is on the development and support of community-focused assistance programs, such as mental health initiatives and financial assistance funds.


During the month of May, several organizations, advocates, and activists dedicate their feeds to discussing the important issues surrounding mental health. These critical discussions, however, should not slow down or deprioritize after May 31st.

Living with a rare disease is complex and results in issues that go beyond the physical impact of symptoms and side effects. Because the complex impact of living with a rare disease can have a negative impact on one’s mental health, let’s make sure to continue speaking up about the importance of prioritizing one’s mental well-being, especially as it pertains to the rare disease community. Another important human dynamic to take into consideration is the reality that the negative impact of chronic debilitating health conditions on mental health is not only exclusive to patients. It is imperative that we include the patient’s family and core support system into these discussions as well. While some innovative pharmaceutical companies are choosing to develop meaningful mental health support programs, mental health support programs are not currently the norm. However, patient advocacy leaders and community-based rare disease activists express their determination to fill this gap through their continued work in establishing meaningful mental health programs, like Mental Health for Rare, in partnership with trusted industry, academic, and advocacy allies.


Originally published as a Living Rare Editorial on May 31, 2023.


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