February 28, 2022 is celebrated annually as Rare Disease Day. This is a major event for the rare disease patient community that helps spread awareness and shine a light on the many challenges and barriers that patients with chronic or rare conditions still face. However, it is also a time for celebrating the community’s strength and highlighting the achievements that have been made in the past year.
The National Organization for Rare Disorders (NORD)‘s one hour Rare Disease Day Celebration virtual event helped us all remember how powerful rare disease patients can be. Participants were asked to #ShowYourStripes as a way to express support and solidarity with the rare disease patients in their lives. The program was hosted by Earl Cole, who lived with a rare form of osteonecrosis that affected his hips. The condition caused poor blood supply to the bone, causing it to start dying. After dealing with inflammation and chronic pain, Earl’s disease was eventually treated with a hip replacement.
The event also featured musical performances from Christian Guardino from America’s Got Talent fame. He performed twice during the program and lives with the rare disease Leber congenital amaurosis. Participants were asked to say hello in chat and share a dedication for the chronic and rare disease patients in their lives. We learned about the stories of many rare disease patients, such as Lucas, who lives with Lennox-Gastaut syndrome and ARID1B mutation.
Others included Austin, a former EMT and firefighter. He was misdiagnosed for years with Parkinson’s disease until he was finally found to have the much rarer multiple system atrophy instead. Now he needs a personal caregiver, mobility aids, and feeding assistance. A short documentary about Austin’s story can be found here.
The program also spent some time educating listeners about the importance and impact of Rare Disease Advisory Councils. These councils can be a critical voice for the rare community in the space of state public policy, and are consulted by lawmakers when they are developing laws that could potential impact healthcare. While only a few states have these councils right now, NORD and other organizations are aiming to establish one in every US state.
Sean Astin, an actor who is most known for playing Sam in the Lord of the Rings film trilogy, also recorded a video for the program. He plugged the Disorder: Rare Disease Film Festival and his film A Deep Blue Breath, which focuses on the story of a boy with a rare illness.
