Rare Disease & Mental Health

BY: Sidney Brown

A rare disease is defined as one that affects fewer than 200,000 individuals in the United States. Research from Spain highlights the significant psychological toll these conditions can take—particularly for patients who wait more than a year for a diagnosis (Benito-Lozano et al., 2023). Similarly, a 2022 report from Rare Disease UK found that over 90% of respondents reported feelings of anxiety, stress, or depression related to their condition. Contributing factors include diagnostic delays, uncertainty about the future, limited treatment options, and financial hardship.

When I first began medical school, I never imagined that my family—or I—would become part of the rare disease community. However, navigating our own diagnostic journey has brought a deep personal understanding of the uncertainty and emotional burden many patients face. Fortunately, while each individual condition is rare, the collective rare disease community shares many of these experiences, fostering solidarity and support.

In 2023, I had the opportunity to participate in the Global Genes Rare Compassion Program, where I was paired with patients and caregivers in the Southern U.S. Many of them were affected by the same condition as one of my own family members. Through this experience, I gained a profound appreciation for the resilience and strength of those living with rare diseases.

Global Genes also provides vital support through resources like Rareminds, which offers professional counseling, well-being services, and educational content. Their online wellbeing hub includes articles on navigating healthcare, managing change, and coping with diagnosis—tools that empower both patients and caregivers through every step of their journey.

Another resource of support includes patient advocacy groups. For example, patients with mastocytosis or mast cell disorders can join a community of over 27k on Facebook groups, or join through organizations like the Mast Cell Disease Society. For those that have difficulty finding a dedicated group, there is a Global Genes RARE Disease Community with 1.8k members facing the same stressors of the diagnostic odyssey.

"Alone we are rare, together we are strong."

References:
https://pubmed.ncbi.nlm.nih.gov/37506095/
https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-022-08060-9