STAT News: After nearly dying five times, a young doctor learned to treat himself. Now he wants to help others with rare disease

[Andy]

Dr. David Fajgenbaum has nearly died not once, but five times. The cause each time was a rare disorder called Castleman disease, an affliction on the boundary between cancer and an autoimmune disorder. It caused his entire body to swell up. Previously a muscled college football player, he first became bloated, then very thin.

Fajgenbaum, who was in medical school when he got sick, did something extraordinary. He founded a patient advocacy group, the Castleman Disease Collaborative Network. But more than that, he delved into the science of his disease, and proposed the treatment that, after five relapses, has kept him healthy since. It was an existing drug, sirolimus, that no one had thought to use for Castleman disease. Football, he said, helped him deal with the failure inherent in medical research.

Now 34, Fajgenbaum details his experience in a new book, “Chasing My Cure,” in which he also writes about his mother’s death from brain cancer and the way the disease affected every aspect of his life, including his relationship with his wife. He’s an assistant professor of medicine in the Division of Translational Medicine and Human Genetics at the University of Pennsylvania in Philadelphia.

https://www.statnews.com/2019/09/12/after-nearly-dying-five-times-doctor-learned-to-treat-himself/

 

[DokaGirl]

Some very familiar scenarios in the article. "Be a patient..."

More like be ridiculously and naively patient, not just a patient.

For most of us, our first, and sometimes only glimpse into the medical infrastructure is with our GP.

If the GP believes "they're working on it" that's the message patients get.

Many are told this about their particular health concerns. I was: "We're just waiting for a cure."

Even taking a more proactive approach and writing to the NIH, and Health and Welfare Canada (what it was called at the time), didn't get me more than a nice "We're working on it."

Essentially, a "go away" message. Don't call us, we'll call you.

Patients often seem to be viewed as annoying, or much worse if they're proactive.

For rare or neglected diseases, or for that matter well-funded ones that still need much work, it is essential that we are involved, and even take the lead.

 

[wingate]

These two quotes sounded familiar:

"I think that, as I said before, if the incentives aren’t in place, sometimes the federal government needs to step in."

"There’s thousands of diseases with no answers, millions of patients. And there’s thousands of drugs that are available today. Can we really mobilize resources in a way to make use of existing drugs? I think that’s a really cool idea."

 

[voner]

I recently listened to this podcast with the author (a M.D.) of this book. Quite interesting with many parallels to people with a rare or poorly diagnosed illness. The author has Castleman disease. It even includes mention of mTor and sirolimus (rapamycin) as possibly helping these patients, cytokines storms and about the similarity of the storm to covid19's.

It also inculdes a short discussion of negotiating the process of creating patient centered research via a patient organization obtaining their own funding and directing what they want researched, instead of hoping researchers getting funded by a government etc.. There is not any detail in this discussion, but it certainly made me want to read the book and explore their patient organization...

https://www.npr.org/2020/05/13/855285638/doctor-with-rare-disease-decides-to-find-his-own-cure