This year, Yale School of Medicine and Yale Medicine honored Rare Disease Day by hosting a free webinar highlighting the experiences of patients with rare disease, specifically the challenges they face in access to diagnosis, treatment, and healthcare. The event was directed by the Department of Genetics and primarily organized by Dr. Michele Spencer-Manzon and Dr. Yong-Hui Jiang. Spencer-Manzon is a long-time advocate for the rare disease community. As a doctor, she specializes in neurogenetics and neuromuscular disease, inborn errors in the metabolism, and congenital disorders of GI malformation. Her goal in organizing the Rare Disease Day webinar was to create an educational, patient-centered event where patients and experts could share their stories.
According to NIH (National Institutes of Health), more than 10,000 known rare diseases affect about 1 in 10 people (or 30 million people) in the U.S alone. As Spencer-Manzon said in an interview, “Rare diseases themselves are rare, but having a rare disease is not rare.” Because of how prevalent they are, rare diseases have an immeasurable impact on our communities, health care systems, and society as a whole. Awareness events like Rare Disease Day are important because they serve to educate people on the experiences of people with rare diseases and how to support them.
The most impactful part of the event for Spencer-Manzon was the patients’ stories. “The resilience of these patients was amazing and they are role models for how to live life to their fullest.” She has found the rare disease community as a whole to also be very positive, warm, and caring. Many rare disease patients have learned to be self-advocates and advocate for their community as a whole. Their willingness to share and help others is incredibly inspiring.
Spencer-Manzon plans to make the Rare Disease Day webinar an annual event. In the future, she envisions a larger event with more educational resources and some fun aspects. She would also like to do more to educate healthcare professionals outside the rare disease community about rare disease. Her goal is to empower other healthcare professionals to care for people with rare diseases, support each other in providing quality care, and open up more conversation about the topic.
In the meantime, for those interested in learning more about rare diseases, Spencer-Mazon has suggestions on resources to look into. The National Organization of Rare Disorders (NORDS) has a number of useful resources. Some to highlight are their Rare Disease Database, which has knowledge about 1,200 rare diseases and their network of Centers of Excellence, which share knowledge on rare diseases and work on advancing rare disease patient care and treatment. These centers are great resources for people with a rare disease or who have a loved one with a rare disease. The NIH also has an Undiagnosed Diseases Program for patients who are seeking treatment for symptoms that don’t correspond with a known disease.
Going forward, Spencer-Mazon believes that rare disease advocacy is about “our community working in partnership with patients and family to optimize healthcare.” Rare Disease advocacy is a multidisciplinary movement that is making advancements in medicine and legislation. A Connecticut Rare Disease Advisory Council was recently created to advise the state on rare diseases. Many researchers at Yale and other research centers are working together to better understand rare disease and treat it. It is an incredibly multidisciplinary effort that has a bright future.