“His doctors were stumped. Then he took over.”

How might we empower people to participate in research about their own diseases or conditions?

Which models work best for organizations solving medical mysteries or improving care for those living with rare conditions?

These are two of the questions raised by a New York Times story today: “His doctors were stumped. Then he took over,” by Katie Thomas about David Fajgenbaum, MD, and his quest to solve the mystery of Castleman disease.

New York Times Sunday Business story on Feb. 5, 2017: Doctor, Cure Thyself

Here is the section that jumped out at me:

In medical research, discoveries come slowly and take twists and turns that no one saw coming. Seasoned researchers have learned to rein in their optimism and to know that true breakthroughs can take years, if not decades, to realize. Not Dr. Fajgenbaum.

“I almost wish that every disease had a David to be a part of the charge,” said Dr. Mary Jo Lechowicz, a professor at the Emory University School of Medicine, who has studied Castleman disease and serves on the network’s advisory board.

Dr. Fajgenbaum’s single-minded mission to take on his own disease is also typical of the rare-disease world, said Max Bronstein, the chief advocacy and science policy officer at the EveryLife Foundation for Rare Diseases in Novato, Calif.

“A lot of mom-and-pop patient organizations emerge to take on these huge challenges in rare diseases,” he said. “I don’t think there’s one correct model for each disease; there’s been so many different approaches.”

Who does David remind you of? That’s the first question that I’d love to see discussed in the comments below. The people who sprang to my mind:

Again, let’s discuss: How might we empower more people to become active, expert participants in research about their (or a loved one’s) disease or condition? What are the factors that lead to someone’s empowerment?

The extra advantage that David has, as pointed out in the story, is his MD and affiliation with Penn. An interesting study might be to show the differences between organizations with medical professionals leading it vs. those with the “honorary PhD” that rare disease patients and caregivers often earn.

Another aspect I’d love to hear more perspectives on: The relative advantages of the different models of organizations. Three models comes to my mind: The “mom-and-pop” nonprofit vs. those sited at an academic institution vs. one that is corporate-backed, for example. Alternatively: Models for change also take different paths, such as community-building vs. data- or specimen-collection as the primary focus.

By the way, if you are new to these questions: Welcome! Some background:

Participatory Medicine is a model of cooperative health care that seeks to achieve active involvement by patients, professionals, caregivers, and others across the continuum of care on all issues related to an individual’s health. Participatory medicine is an ethical approach to care that also holds promise to improve outcomes, reduce medical errors, increase patient satisfaction and improve the cost of care.

If you’re ready to dive in, I’m sure there are other questions to discuss beyond the ones I list above. Please join the conversation on Medium or post a comment below.

Champions of Change

Secretary Burwell and 9 White House Champions of Change

From left to right: Howard Look, Anish Sebastian, Amy Gleason, Hugo Campos, HHS Secretary Sylvia Burwell, Amanda Haddock, Emily Kramer-Golinkoff, Marcia Boyle, Dorothy Reed, Elizabeth Gross Cohn.

 

Nine Precision Medicine “Champions of Change” were honored at a White House event on Wednesday, July 8. I count everyone in that picture as a community colleague — and some as dear friends.

My role at the event was to moderate a discussion with four of the Champions: Amy Gleason, Anish Sebastian, Hugo Campos, and Howard Look.

In my introduction to the panel, I talked about how this was a panel about data liberation. These four Champions demonstrate how essential it is for individuals to have access to their data, to lift the false boundary between home and clinical care, and to allow patient autonomy to flourish. Continue reading

What health care can learn from Mike Mulligan and his steam shovel

Google is upgrading health search…again.

In 2010, I was inspired by Animal Farm to write that Google saw some health sites as more equal than others. This time I turned to Mike Mulligan and his Steam Shovel, by Virginia Lee Burton.

Cover of children's book: Mike Mulligan and his Steam Shovel, by Virginia Lee Burton

Continue reading

Every-day magic

I’ve been following Bertrand Might’s story for a few years through his parents’ blog about his “movement disorder” (which turns out to be related to his incredibly rare condition, NGLY1 deficiency).

Last week, Matthew Might co-authored a commentary with Matt Wilsey in the journal of the American College of Medical Genetics and Genomics: “The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.” Continue reading

“Pursue hope like it’s an outlaw.”

Quote

Afternoon Napper during Rare Disease week in Washington, DC

Zebras by schinkerj on Flickr

I love that line and that spirit — and this image captured by John Schinker because it looks like these zebras have formed a posse and are heading out on the trail together. When you hear hoofbeats, think “horses” but don’t rule out zebras.* And if you’re a zebra, find your herd — you’ll be happier and maybe even survive longer.

* Read about Occam’s Razor and a doctor’s perspective on the medical slang term for a surprising diagnosis.

Extremely rare, incredibly typical

After nearly 15 years tracking the cultural shifts happening at the intersection of health and the internet, I know a few things.

#1 – don’t get between a parent and a piece of information he or she needs to make a decision about the health of a child.

#2 – from 28.8 modems to the latest smartphones, any piece of tech is going to turn into a medical device in the hands of an e-patient. Continue reading

A field guide to The Diagnosis Difference

The Pew Research Center released a report today on people living with chronic conditions: The Diagnosis Difference.

Policy makers, patient advocates, entrepreneurs, investors, clinicians — all health care stakeholders — can use the data to map the current landscape. There are still barren patches, where people remain offline and cut off from the resources and tools. But there are lush valleys, too, where engagement and change is happening.

I see e-patients as the guides to those valleys since unless you are living with chronic conditions — or love someone who is — you don’t see that side of the internet. So here’s my request: provide your evidence. Show what you have learned. Continue reading

“Every Mom and Dad of a child with a rare disease has earned an honorary PhD”

People in academic regalia, photo by 1yen on FlickrThat’s a line from an essay entitled “cri de cure” by Ethan Perlstein. I tweeted it and got some great replies:

Hahaha. I’m often asked by medical teams if I am a MD or nurse. I tell them ‘no,but I have a PhD when it comes to my daughter’ – @SolidFooting

Yes! I know more then most docs! – @mama2ego

I did PhD b4 having Alexis, the journey to diagnose and manage conditions has been more trying. – @drcatherinerose

I’ve handed out a couple PhD’s to @asaarinen in the past few years. 🙂 – @taulpaul

Purple sneakers, photo by Ma Got Sole on FlickrThen we started just having fun, imagining academic regalia — different color hoods for various conditions. And sneakers to match! Who’s up for making this happen? 30 million people is a pretty big market!