February 28th marks Rare Disease Day, a celebration of the more than 30 million Americans who live with a rare disease and the millions more who work as caregivers and advocates. A rare disease is defined as any condition affecting less than 200,000 people in the United States. Current estimates place the number of rare diseases at 10,000, but that number continues to grow as more diseases are researched. Individually, each disease population might be small; together, the rare disease community stretches from coast to coast and represents the entire, diverse tapestry of the American people. Unfortunately, only about 5-percent of all rare diseases have an FDA-approved therapy (ELF). For the vast majority of rare disease patients, there remains a lack of understanding about their symptoms that leads to a long and costly diagnostic journey.
For those many communities without an effective treatment, the post-diagnosis space can be a sea of costly interventions. Protracted diagnostic odysseys and a shortage of critical therapies for rare disease patients generate a tremendous economic burden on the entire American healthcare system.
In 2021, the EveryLife Foundation for Rare Diseases, in partnership with the Lewin Group, guided a Technical Advisory Group representing various organizations of the rare disease community, published the National Economic Burden of Rare Disease Study. The study’s goal was to provide the most comprehensive assessment to date of the cost of rare disease in the United States. Medicaid, Medicare, and commercial data sets were used to quantify direct medical costs. Thanks to the engagement of many patient advocacy partners, the RD Impact Survey was disseminated to rare disease patients to calculate indirect and non-medical costs associated with rare diseases. These indirect costs included forced retirement; absenteeism and presenteeism in the workplace; social productivity losses; governmental costs associated with disability income; and other costs such as paid caregivers, home modifications, and increased transportation costs. A rigorous analysis of the RD Impact Survey produced a dataset of 1,360 patients representing 379 rare diseases. The study estimates that this sample represents 15.5 million rare disease patients.
After considering direct and indirect medical costs, the total economic burden of rare disease was $966 billion in 2019 alone. Notably, the highest cost category was demonstrated to be indirect medical costs, driven by lost productivity at work. The findings of this study highlight the profound financial impact of a rare disease diagnosis. The rare disease community has called for policy leaders, healthcare providers, employers, and others to think innovatively and collectively. New approaches are urgently needed to improve the care and treatment of rare disease and to reduce costs being shouldered by American families. As the study asserts, “These findings demonstrate that the rare disease community has a significant unmet need with tremendous public health impact, one that requires urgent support to advance research and development of resources for prevention, management, and ultimately, cures of these often-devastating diseases. All these steps may lead to significant societal benefit.”
While the National Economic Burden of Rare Disease Study data highlighted the need for a concerted investment in rare disease research, it also opened the door to further investigations into the community. In particular, the study provided key insight into the diagnostic odyssey many patients face. On average, a rare disease patient will see 16.9 specialists over a 6.3-year period from first symptoms to receiving a confirmed diagnosis. This journey, including costly events such as traveling to out-of-state experts or emergency department visits, are some of the most expensive drains on the healthcare system. The data also showed a high standard deviation, insinuating that the burden is much greater for some patient.
In response to the compelling story borne out in this diagnostic data, the EveryLife Foundation, again in partnership with the Lewin Group, is currently conducting a follow-on study, the Economic Assessment of Timely Diagnosis in Rare Disease. This study is analyzing the economic impact of newborn screening and timely diagnosis in rare disease. There are seven diseases being studied: ALD, Duchenne Muscular Dystrophy, Generalized Myasthenia Gravis, Fragile X Syndrome, Pompe Disease, SCID, and Wilson Disease. After a literature review and data observation, patient journey maps are being developed in consultation with experts and patient advocacy partners. These maps have been transformed into an analytic framework to quantify the difference in cost between a delayed and timely diagnosis. A report will be released in Spring 2023, followed by a published manuscript. This assessment will contribute to the growing repository of evidence being used to help inform policy and decision making.
Rare disease patients and their families face physical, mental, and economic challenges with steadfast resilience. These data collection efforts are helping to pair quantifiable costs around the lived experience of rare disease. Data reflected within the healthcare environment is helping yield a complete picture of the rare disease patient community experience. During Rare Disease Day and every day, let us recommit ourselves to striving for equitable and timely access to lifesaving diagnoses, interventions, and treatments for the rare disease community.
About the Author
Jack Meloro is the Policy Programs Manager at the EveryLife Foundation for Rare Diseases. Jack is a graduate of the University of Notre Dame, where he majored in History and International Economics. At the EveryLife Foundation, Jack helps lead the Community Congress, a coalition comprised of more than 340 patient advocacy organizations and biopharmaceutical partners that address urgent policy needs in the rare disease community. He is extremely grateful to learn every day from the expert staff at the EveryLife Foundation and to collaborate with so many inspiring rare disease advocates.