Below is footage of Dr. Gahl, the primary investigator for Hermansky-Pudlak Syndrome at the NIH, giving a talk at one of the TED conferences.
It doesn't even mention Hermansky-Pudlak Syndrome, but I've shared it here because Dr. Gahl so welll presents an issue all of us with rare diseases must be concerned about. After all the work and science that it takes to find potential treatments, what happens when those treatments go through the regulatory process? On what basis will they be evaluated, and should the same criteria be used for common disorders as is used for rare disorders? I would argue no.
In this presentation, Dr. Gahl spells out an ethical principle - risk vs. benefit. It's a principle I used (although in my own head) to weigh the potential benefits and risks of participating in the drug trial at NIH. Although we believed Pirfenidone was safe (and still do), it's not an experimental drug for nothing. There are unknowns.
I was still in reasonably good health, but I knew that my pulmonary fibrosis would progress. Thankfully, it's been progressing very slowly, but I had no way of knowing that at the time. I made a decision that the risks were worth it to me because pulmonary fibrosis is 100 percent fatal. The benefits, even if very small, mattered to me.
Dr. Gahl makes a very memorable quote in this presentation. It's been ringing in my head for these past few days. The FDA says that patients with rare diseases deserve to be protected as much as any other human subjects. We agree. But, as Dr. Gahl puts it, "Patients with rare diseases want to be protected, but they don't want to be protected to death."