ENERGY IN ACTION – EPISODE 038
Patient Led Trials
Steve Smith is a rare disease advocate, father, and a fierce fighter for rare disease patients.
EPISODE HIGHLIGHTS
How did you become a rare disease advocate?
My advocacy started when my three year old was diagnosed with a rare disorder in 1990. My focus was on our family, but I also began looking to see what can be done medically and I was also pretty quickly introduced to the world of clinical research. I attended a conference where a doctor presented a breakthrough in genetic medicine. About ten years later, there was a clinical trial for a disease which is biochemically related to my son’s disease. Through a decade of advocating, I realized all diseases are interrelated and of the regulatory hurdles to rare disease drug development.
What can families do to advocate for themselves and for their children?
Time is definitely of the essence when talking progressive diseases. There’s a tug-of-war in the healthcare system, in the regulatory process and drug development, between safety and speed. As parents, we want speed. But things can be different than they were because we have modern science, advanced computing, more knowledge of the human genome, sophisticated collaboration. We can have safety and speed. Collaboration is important where families are increasingly part of the healthcare system. Newly diagnosed families should use their voice and collaborate.
How does the 21st Century Cures Act impact rare disease patients?
Rare disease advocates worked hard on the 21st Century Cures Act and it was a turning point in legislative change. What it did for rare disease drug development was allowed for an improvement of breakthrough therapy designation. It’s based on progress, on what’s really happening in the world. It also strengthens biomarker guidance, a way of having an interaction around a biomarker and proposed data before too many months pass.
Can you talk about newborn screening and how to support that effort?
Everybody can find details And you can do that on the EveryLife Foundation For Rare Disease website. They are one of the organizations for rare diseases that is advocating for newborn screening. When a baby is born, hospitals do a heel prick and check their blood for diseases, but what diseases are checked for is what’s at issue. Newborns are not screened to see if they have many progressive diseases. To get a disease on the Recommended Uniform Screening Panel (RUSP) takes years. Then states decide whether they’re going to test at their hospitals. EveryLife has a bootcamp for advocates available to anyone who wants to learn how to talk to their legislator about newborn screening.
