Today’s episode of the I am BIO Podcast features two powerful patient stories with a common thread: patients want and need to be heard. Listen to them tell their stories now—or keep reading for advice for patients and policymakers.
Rare diseases affect 1 in 10 Americans—but “doctors told us nothing could or would ever be done because it’s a rare disease,” says Amber Freed, whose son was the 34th person in the world to be diagnosed with a mutation of the gene SLC6A1, causing severe neurological disease.
She founded SLC6A1 Connect to advocate for patients and research the disease. After relentlessly calling hundreds of doctors and raising $3 million, she discovered a potential cure—but needs $1 million to begin a clinical trial.
“What we’re striving to happen is to sponsor this small trial so that we’re able to hand off all of the research…to a larger biotech that can get this drug fully FDA approved,” she explains.
But even patients with diseases that AREN’T rare face challenges in getting proper diagnosis and treatment, says Melodie Narain-Blackwell, Founder of Color of Crohn's & Chronic Illness (COCCI), who should have been diagnosed with Crohn’s 20 years earlier.
“The disparity in the space of Crohn’s and ulcerative colitis for people of color is that they're not diagnosed,” she explains. “And usually when they're diagnosed at these moderate, severe states, they're not even offered a drug that could actually help them have a better quality of life.”
This is why she founded COCCI—and she’s gotten results: “We're experiencing a lot of opportunity in health equity and healthcare, and partnership from pharma organizations, because we're building a community that has severe unmet needs.”
What patients need to know: “Find a community,” says Narain-Blackwell. “Community recognizes who you are, where you are, and you now have a space that looks and feels like you and it creates the ability for you to thrive.”
What policymakers need to know: “We need more buy-in. We need a shorter regulatory path,” says Freed. “We need more resources through the NIH, through the FDA, through nearly every entity, because this many kids don’t need to be dying.”
Listen: You can get the full episode at www.bio.org/podcast or via Apple, Google, or Spotify.
More Health Care News:
Boston Globe: The risks of government negotiation of drug prices
"Under the guise of Medicare ‘negotiations,’ the US House of Representatives is considering a measure that would mandate the government to set prices on some of the most widely used drugs," writes Dave Ricks, President and CEO of Eli Lilly and Company
Moderna: Moderna announces positive top line data from phase 2/3 study of COVID-19 vaccine in children 6 to 11 years of age
“This interim analysis showed a robust neutralizing antibody response after two doses…with a favorable safety profile.”
P.S. How do we close the health equity gap? Today, October 26, the National Minority Quality Forum (NMQF) will hold a virtual event on cardiovascular disease health equity, featuring Dr. David Platt of Novartis discussing the company’s commitment to closing the equity gap through an initiative focusing on the social determinants of health—get the details and register.
