Rare Disease Month in February recognizes the nearly 30 million Americans living with one of more than 7,000 rare diseases. A disease is considered "rare" in the United States when it affects fewer than 200,000 people. Most rare diseases are genetic, and approximately 50% affect children. For many, diagnosis comes after years of uncertainty, misdiagnosis, and medical journeys that span dozens of specialists and hundreds of appointments.
The Importance of Research
Many rare diseases stem from single gene mutations and can provide insight into how the body works with more common conditions like Alzheimer's and heart disease. Coalition Ambassador Jeevan Mann understands this as both a rare disease patient and a researcher. As a teenager, Jeevan was diagnosed with an ultra-rare form of Ehlers-Danlos Syndrome (EDS) caused by a gene mutation known in less than 10 people worldwide at the time of his diagnosis. His experience led him to study biological psychology at the University of California, Davis and to the University of Colorado Anschutz Medical Campus where he is currently a professional research assistant.
Jeevan’s form of EDS has unique impacts on the skin including stretch marks, impaired wound healing and early wrinkling of the hands, feet and face. In his research, Jeevan is using manufactured skin to study hypermobile EDS (hEDS) and to understand the biology and sequence of events that lead to the disease developing, progressing and manifesting in the body. Though Jeevan’s research is focused specifically on collagen-related diseases, his work may apply to other rare and common diseases and conditions.
The Impact of Diagnostic Delays
Getting a diagnosis is often the greatest hurdle in a patient’s rare disease journey. The average time to diagnosis is five to seven years, during which patients may see eight or more physicians and receive multiple incorrect diagnoses. This diagnostic delay carries profound consequences: progression of disease, preventable complications, emotional trauma, and financial burden.
The diagnostic journey for Coalition Ambassador Jodie Eiler took eight years. Despite persistent symptoms and multiple doctor visits, Jodie faced referral barriers and dismissive attitudes from healthcare providers. Her primary care physician, for example, wrote off her initial symptoms of a racing heart and fainting as anxiety. Later, when she was diagnosed with dysautonomia, appointments with neurologists were canceled due to a perceived overlap with cardiology. “From 2020 until now, I’ve seen constant specialists and have spent so much money out of pocket that hasn’t gone toward my insurance. It’s sad because I feel like I’ve put so much time, effort and money into my health and it feels like my doctors could have done more,” says Jodie.
How You Can Support Rare Disease Patients
Supporting someone with a rare disease is not one-size-fits all. For Jeevan, compassion and understanding that every day is different is what he appreciates most from his friends, family and colleagues. For Jodie, it’s reminders to give herself grace, prioritize self-care and rest.
Here are other ways you can support someone with a rare disease:
- Listen and validate their experience
- Connect them with our partners: The Every Life Foundation for Rare Disease, the National Organization for Rare Disorders (NORD), the Rare Access Action Project or other disease-specific foundations
- Help support their research and connect them with patient communities
- Contact legislators about research funding and insurance protections