By Sharece Crawford
Special to the AFRO
Though approximately 30 million Americans are affected by rare diseases, it’s a subject that has not been explored much in important national conversations- particularly in the Black community. On Feb. 23, NBA Champion Alonzo Mourning joined top medical professionals and legislative leaders in a more than two-hour convening to address health disparities during the Rare Disease Diversity Coalition’s (RDDC) first official convening.
After Mourning was diagnosed with a rare kidney disease, later identified as Focal segmental glomerulosclerosis (FSGS), he was forced to get a double transplant in 2003 in order to survive. “I would have ignored the symptoms and not caught the condition as early as I did if it were not for mandatory checks ups as a professional athlete.” Mourning said. “We can’t wait for somebody else to do it for us, we all have to be active participants and a large part of that responsibility is going to the doctor once a year.”
According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases documented — affecting more than 30 million Americans. This equates to one in 10 people or one person on every elevator and four people on every bus. This estimate still does not account for the undocumented, rare disease patients or the individuals who are forced to become independent researchers who self diagnosis.
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Since medical professionals have full discretion as to whether or not a patient’s condition is worth exploring or properly investigating, many patients are left without a diagnosis at all.
Rare diseases have become known as orphan diseases because drug companies were not interested in adopting them to develop treatments. This definition was created by Congress in the Orphan Drug Act of 1983. Although Congress created financial incentives to encourage companies to develop new drugs, rare disease advocates have documented that race, gender and economic bias in medicine still exists in 2021.
The truth Mourning faced in the early 2000s rings true for many, particularly Black Americans, who express distrust in medicine, which is one of the 11 core goals of the RDDC. The RDDC is made up of a diverse, 24-person steering committee, launched by The Black Women’s Health Imperative, who outlined their plan and submitted it to Congress in order to end racial and economic disparities in rare diseases. The committee shared their recommendations with Congress specifically for people of color. According to Dr. Garfield Clunie, those plans include: “Trust… Increase trust of the healthcare system… improving access to care and treatment…trust of the medical system.”
“Trust is a tremendous challenge not unlike what the U.S. is facing right now with Covid-19 vaccine hesitancy, which is in part due to things like the Tuskegee, syphilis study and much like in all our lives- once trust is broken, it’s hard to get back. It’s not impossible, but it definitely is hard and as a high-risk obstetrician that sometimes treats women with rare diseases of minorities in underserved populations, I can’t overemphasize that enough,” Clunie said passionately.
Dr. Marcella Nunez-Smith, chair of the Biden- Harris administration, Covid-19 Health Equity Task force, joined the RDDC conversation to share the President and Vice President’s commitment to the Rare Disease Community. “ The conversations that are happening more widely now about things like access to diagnostic testing treatment to innovative care is now a national conversation. The Administration has committed to building systems to enhance data collection, making our healthcare system more. We cannot overcome the disparities without partnership between the federal government, not to mention the vital role these organizations have played. We want everyone to feel empowered to have meaningful conversation with trusted community leaders,” Dr. Smith said. “I know firsthand that your voices are working in this space. They are absolutely critical as the work is very personally meaningful to me and as a parent of a child with a rare disease. This is why I thank you sincerely for your energy, for your partnership and for your leadership.”
Congressman G.K. Butterfield (D-North Carolina) joined the conversation to share his support. “Thank you to the Black Women’s Health Imperative and the Rare Disease Diversity Coalition for inviting me today to speak to all of you. I wish I could be there in person, but it is wonderful to see this vital work moving forward during these challenging times. We must increase our investment in research and medical trials and create incentives for companies to develop the next generation of treatments and cures. This means getting buy-in from members of Congress so that we can pass bills to help accelerate research and Innovation and that’s where I fit into today’s program. I serve in this bipartisan Congress with members of Congress and their staff who work to educate members on issues facing the rare disease community,” Butterfield said. “I am so proud to stand with each one of you in the rare disease community. Please know that you have an advocate in Congress. I am your advocate and I will continue to be your champion in this fight.”
The RDDC also received expressed support from the US. Senator Tim Scott (R-South Carolina) office.