Philanthropy in the past few years has made important strides to address health inequities in the United States, pouring millions into health organizations serving people of color, women, LGBTQ+ individuals, and rural communities. These commitments are long overdue and will help close important gaps in health, life expectancy, and quality of life.
But one important area is notably absent from these efforts. As the leader of an organization that works every day to advance the interests of the more than 25 million Americans living with rare diseases, I’d like to challenge my colleagues in philanthropy to extend their investments in health equity to this often-overlooked segment of the population.
Each year on the last day of February, people around the globe mark Rare Disease Day — a patient-led international awareness campaign that spotlights the unique challenges that confront those who live with rare diseases. For a disease to qualify as rare, it must affect fewer than 200,000 Americans — or less than .06 percent of the U.S. population. But while the odds of being diagnosed with any individual rare disease are low, the universe of rare diseases is quite large. The National Institutes of Health has identified more than 7,000 rare diseases, which together affect more than 25 million Americans and their families.
Some rare diseases — such as amyotrophic lateral sclerosis, or Lou Gehrig’s Disease — are familiar to many Americans. Most, however, are less well known. For example, metachromatic leukodystrophy, or MLD, and Huntington’s Disease, are hereditary diseases that ultimately affect both intellectual and motor function. Symptoms vary by type but can include difficulty talking and walking, memory loss, seizures, and behavior and personality changes.
The actor Bruce Willis made headlines this month when his family disclosed that he had been diagnosed with frontotemporal dementia, a rare type of neurodegenerative disease that affects between 50,000 to 60,000 Americans.
Similarly, the famed singer Céline Dion recently announced that she has been diagnosed with Stiff Person Syndrome, a rare progressive neurological condition that can cause stiffness in muscles in the trunk, arms, and legs, greater sensitivity to noise and touch, and emotional distress, which can set off muscle spasms so severe they can break bones, dislocate joints, and cause life-threatening breathing problems.
Because of the rarity of each individual condition and scattered populations, people living with rare diseases face inequities in accessing diagnosis, care, and treatments. Even with her resources, it took Dion years to get an accurate diagnosis for her condition, which hampered her ability to walk and perform.
Dion is far from alone. It takes many rare-disease patients up to six years to get a diagnosis — a journey that often includes multiple trips to specialists, dozens of tests, and high out-of-pocket costs. This journey is especially fraught for those with limited incomes, patients who live in rural communities, and those with language barriers.
Once a patient finally gets a diagnosis, they face another set of obstacles. Roughly 90 percent of rare diseases do not have an approved treatment.
The challenges are especially acute for children, who make up 50 percent of rare-disease patients. They often struggle to attend school and participate in the same activities as their peers, forcing parents to make difficult choices about how to best care for their children.
With MLD, for example, a child’s development starts to slow down between the ages of six months and two years — ultimately leaving the child unable to walk and, in many cases, to chew and swallow, requiring specialists to provide care and education.
Philanthropy’s Obligation
In the face of these challenges, philanthropy has an opportunity — and an obligation — to expand its definition of health equity to include the one in 10 Americans and their families who are living with rare diseases. In turn, they should support this expanded definition with expanded investment. That means funding efforts to increase the availability of treatments for rare diseases and the speed of diagnoses — and to decrease the cost of treatment and care for patients.
A good place to start is by investing in research that advances knowledge about individual rare diseases. Nonprofits such as the Association for Frontotemporal Degeneration — an organization that is working to increase understanding of Willis’s disorder — support rare-disease patients and their families by helping those who are diagnosed make informed decisions about how to take part in research studies aimed at finding treatments and cures.
The organization I lead, the National Organization for Rare Disorders, or NORD, also partners with a network of medical research centers across the United States that are working to improve access to expert care and reduce the time to diagnosis. Philanthropy can support these and other independent research organizations that are trying to accelerate the development of treatments and the collection of information from rare-disease patients and caregivers that lead to scientific breakthroughs.
More support is also needed for advocacy efforts that recognize rare diseases as a public-health priority and push governments to create policies aimed at faster diagnoses, better treatments, and more medical innovations.
Investments in patient-advocacy organizations can help pave the way for more states to overhaul so-called step-therapy laws, which prevent rare-disease patients from gaining timely access to the prescription medications recommended by their health care provider. These organizations also fight for expanding Medicaid eligibility and other measures that give more children and low-income rare-disease patients access to necessary medical care.
Focusing on Diversity
Finally, philanthropy can serve as an important partner in programs that advance diversity, equity, and inclusion within the rare-disease community. A growing number of patient organizations are investing in efforts to reach populations that have traditionally been underrepresented within the rare-disease community. For example, the Alliance to Cure Cavernous Malformations, a blood-vessel disorder that can cause seizures and hemorrhaging, runs a genealogy project with the University of New Mexico that connects at-risk Hispanic families with free genetic testing and provides education to encourage self-advocacy.
To advance broader equity efforts across the field, NORD is launching an outreach program to connect with Hispanic rare-disease patients to better understand their unique needs and experiences.
Rare diseases do not discriminate. They affect people of all genders, ages, races, ethnicities, socioeconomic status, religions, and sexual orientations. Those who live in urban areas are as likely to suffer from rare diseases as those in rural communities. On this annual Rare Disease Day, let’s ensure that every one of them is heard, recognized, and fully supported.
