Feb. 29 marks Rare Disease Day, dedicated to advocating for, and addressing healthcare access, representative research, and increased funding for rare disease patients.
Although rare diseases impact a much smaller population compared to those suffering from most common illnesses, such as kidney disease, diabetes or heart disease, an estimation of 7,000 known rare diseases affect nearly 300 million people worldwide.
Jennifer Ngo Waldrop is executive director of the Rare Disease Diversity Coalition (RDDC), a subsidiary of the Black Women’s Health Imperative. Waldrop works closely with physicians and advocates in the rare disease space to alert legislators to the urgent need for better policies, and incorporates the concerns shared by patients as many face difficulties on a day-to-day basis.
“We partnered up as a coalition and came about to bring the voices of our different coalition members, or even those that are specifically involved with particular diseases. And so the way I position the coalition is we are a megaphone for many of those that are in this space,” said Waldrop.
Through their advocacy work, rare disease patients commonly share concerns regarding barriers to proper health care treatment, including financial ceilings on certain pharmaceutical prices. Among medications treating rare diseases, only 5% of pharmaceutical drugs in the United States have been approved by the Food and Drug Administration (FDA), leaving 95 percent of people affected, without an approved FDA drug.
The Need for Equitable Health Care in the Rare Disease Space
Due to the complex nature of rare diseases like Aarskog Syndrome, Cadasil, Ehlers Danlos Syndrome and many more, patients and families are often left scrambling to address the devastating impacts of lacking proper health care and pharmaceutical treatment.
Managing rare diseases are often strained by the issue of diagnostic delays, spanning anywhere from months to years of pinpointing a patient’s illness. Patients also face challenges of limited access to care from specialized healthcare services and expertise, the financial burden of seeking medical attention and medications, mental and emotional health impacts, and much more.
In honor of Rare Disease Day, representatives from the RDDC are in Washington, D.C. to convene with the Rare Disease Congressional Caucus to encourage the enactment of bills that could serve as a lifeline for rare disease patients in need.
One of the bills that the RDDC is hopeful to pass is the Accelerating Kids’ Access to Care Act, which has garnered bipartisan and bicameral interest and support. Research shows that the majority of patients in the rare disease space are children, due to short life expectancy, the level of care received, and other health difficulties faced by patients.
Advocates for the Accelerating Kids’ Access to Care Act hope to encourage early medical attention, such as newborn screening to catch diseases, potentially, even before symptoms begin to show.
Waldrop details the struggle of one of the coalition members, a caregiver whose child was diagnosed with what is called Edwards Syndrome, a Trisomy 18 disease that impacts that part of the DNA in the cells.
“What she and her family experienced as African Americans, was that there was a lack of understanding of what the next steps were,” Waldrop explained. “A number of doctors, her providers, and those in her community did not know how to treat this child, and so they basically didn’t think the child was going to live [as long as they have at about] seven or eight years now.”
Finding solutions for rare disease pediatric patients and their parents is another reason behind the proposed legislation.
“What are the needs for parents to be able to provide a certain lifestyle for that child so that it can grow into adulthood? That’s one of the reasons why we’re doing this care act, specifically, and talking to members of Congress,” Waldrop said.
