Seeing What’s Often Ignored.
Quick Facts
The definition of a rare disease varies by country, but for the U.S. specifically, it is classified as a medical condition that impacts below 200,000 people (Cleveland Clinic).
Over 10,000 rare diseases affect over 25 million people per year in the US alone. Roughly half of this population are children, and many of these illnesses are life-threatening (FDA).
Due to the small margin of people living with these conditions, very few patients are available for testing, and only a small fraction of the total population will purchase treatment drugs. This lack of profit discourages companies from both producing existing medicines and carrying out new research (FDA).
The government has attempted to combat this through the use of the Orphan Drug Act, which incentivizes the development of rare disease treatment drugs (FDA). The legislature was successful in some aspects; in the 40 years after it was signed into law, 882 new FDA-approved treatment drugs were procured (NIH). But looking at the whole, the fact remains that 95% of all known rare diseases have no FDA-approved treatment — demonstrating that its effects are largely insufficient (NIH).
Rare disease nonprofits are conducting research and offering support to those who are influenced by these disorders, but unfortunately, they are often underfunded (Beacon).
Interview Highlights
Q: There are a lot of other cystic fibrosis foundations and nonprofits around the US. How is CFRI different from them?
A: CFRI is small but mighty. Our tagline that the community knows us by is that we are really by and for the CF community. With our committees, we're able to be really nimble and responsive. If we have a committee meeting next week and the adults on the committee say they really need a resource, we can create it. It will be up and it will be running and reviewed by the community within the next month or two. We can be really responsive to everyone's needs.
Cystic Fibrosis Research Institute
Interviewee: Hannah Dolhai, advocacy and programs associate
Quotes have been lightly edited for length and clarity.
Q: Can you tell me more about racial discrimination in healthcare with sickle cell disease?
A: With African-Americans being the largest group of people living with sickle cell disease, there’s another layer of racial discrimination or bias. The biggest thing that we see is when our young people and even some of our older generation when they go in for pain into the emergency room. They are often discriminated against and identified as being a drug seeker or a drug addict. Our clients know what type of medication they need to help them relieve pain, so when they're coming in asking for a specific dose of a narcotic, then it looks like “Why do you know this information?” But they've been living with this disease their entire life. So they know what level of pain meds work for them. That's one of the biggest challenges that we have: getting providers to understand that although they are asking for very extremely high doses of narcotics, it's because it's what works for them.”
Sickle Cell Disease Foundation
Interviewee: Deborah Green, director of health education
Q: Most doctors in medical schools across the US only study rare diseases minimally. How does that change situations for patients before they come to the ALS Association?
A: The awareness of ALS and the ability to recognize it varies greatly from doctor to doctor. People sometimes get unnecessary surgeries because they think maybe it's carpal tunnel or something to do with their neck. We've seen that, unfortunately, over and over again. We want people to not have to spend so much time before they get diagnosed so they can get care more quickly.
Cystic Fibrosis Research Institute
Interviewees: Alex Thomas, clinic liaison; Glen Garcia, director of care services