Rare Disease Day: 30 million patients speak with one voice
This past week, patients from across the globe spoke with one voice on Rare Disease Day, the annual global event when millions of patients living with rare diseases advocate for greater access to innovation.
What’s considered a rare disease? Diseases are classified as rare when they affect fewer than 200,000 patients. Collectively, the rare disease community includes more than 30 million patients in the United States. There are more patients living with a rare disease than patients with HIV, heart disease, or stroke – combined.
Although the science and medicine for treating each disease may be unique, the policy challenges are often the same across rare disease communities. Patients living with rare diseases need greater investment in research, streamlined pathways for advancing innovation and improved access to potentially life-saving treatments.
“The science exists for many of these diseases to be treated,” notes Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases, which advocates for all rare disease patients and organizations. “However, treatments may never be developed because of roadblocks in the development process, such as a lack of investment and a challenging regulatory environment.”
Rare Disease Day was an opportunity for patients to raise the profile of the unique challenges facing rare disease patients. Even a diagnosis can prove to be a major challenge. Many patients who are faced with rare diseases spend months or years without obtaining the proper diagnosis. Some are never properly diagnosed.
Value frameworks threaten innovation for patients with rare diseases, such as multiple myeloma
Innovation, a priority for all patients, is paramount for the one in ten Americans living with a rare disease. Of more than 7,000 rare diseases, only 5 percent have treatments. Far fewer have cures.
Value frameworks, such as those proposed by the Institute for Clinical and Economic Review, turn patients into numbers on a spreadsheet, putting “quality adjusted life years” ahead of people. When patient lives are reduced to quality-adjusted life years, patients with rare diseases will always lose. More than 80% of rare diseases are considered ultra-rare, affecting fewer than 6,000 people. Without considering value at the individual patient level, treatment options for rare diseases will always be deemed too costly.
Take patients living with multiple myeloma. Every year, more than 13,000 patients die from multiple myeloma, a blood cancer that affects cells in the bone marrow. We believe that diseases like multiple myeloma — where there is no cure – the very best hope patients have today is outsmarting the cancer for as long as possible. Outsmarting the cancer means these survivors are counting on continued innovation.
Rare disease patients, like Duchenne boys, can’t access innovation
Even when new treatments are developed, patients living with rare diseases often face insurance barriers to accessing those treatments.
That’s the challenge for patients living with Duchenne muscular dystrophy. Duchenne is a progressive neuromuscular disorder that results in progressive muscle deterioration and weakness. The rare and fatal genetic disorder primarily affects boys and is the most common type of muscular dystrophy.
Last September, a group of patients with Duchenne muscular dystrophy gained real hope when the Food and Drug Administration approved Exondys 51 — the first drug to treat a portion of Duchenne patients.
“Patients with a particular type of Duchenne muscular dystrophy will now have access to an approved treatment for this rare and devastating disease,” said Dr. Janet Woodcock, director of the FDA’s Center for Drug Evaluation and Research, who championed the treatment’s FDA approval. “In rare diseases, new drug development is especially challenging due to the small numbers of people affected by each disease and the lack of medical understanding of many disorders.”
Many insurance companies, however, refuse to cover the treatment. Like all patients, Duchenne patients deserve the very best that medical innovation and the American health care system can offer. Anything less is unacceptable.
We must work together to continue to fight for innovation and access for patients to ensure our pipeline of progress is not threatened. On Rare Disease Day, and every day.
