Illuminating Advocacy: Rare Disease Day

Rare Disease Day raises global awareness of the struggles faced by people battling one of the more than 6,000 identified rare diseases. Advocates come together to raise awareness and support one another on a day designed to drive meaningful change.

Health Care Challenges for Rare Disease Patients

Every rare disease has its own challenges, but many people in the community face similar barriers. The most common obstacles are low awareness, an inability to access treatment and a lack of support.

Consider people living with the rare disease known as hereditary transthyretin, or hATTR, amyloidosis. Early diagnosis is important, yet patients with rare diseases like hATTR amyloidosis struggle to get a timely and accurate diagnosis due to the rarity of their condition. Medical specialists are in shortage, and many health care providers work from outdated treatment guidelines. Once an accurate diagnosis has been reached, treatment can present another hurdle. Like medications for other rare diseases, treatments for amyloidosis can be costly. Some governments and health care systems may not pay for them.

Understanding the gaps in diagnosis, treatment and care for rare disease patients can help in developing patient-centered policies and highlighting the lived experiences of rare disease patients and their families.

Advocacy Efforts

Advocates complement policy efforts by providing educational resources and undertaking social media campaigns.

The Rare Disease Day website offers resources and educational toolkits, which anyone can use to join the community’s awareness effort. The website also highlights events like the Global Chain of Lights, which encourages people to raise awareness at home with lights and decor. Meanwhile, resources like the Equity Toolkit tackle discrimination in education, work and health care system. The toolkit provides statistics and facts about rare disease disparities and efforts.

Rare Disease Day is not just a date on the calendar; it is a call to action. Working together, advocates can overcome persistent barriers to ensure adequate care and support for rare disease patients across the globe.