Rare Disease Innovation Driven By and Driving Open Science


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When you hear the word “rare”, don’t you instinctively think of something precious, something unique and valuable, treasured and guarded and preserved with great care and tenderness? I do. The image above is of a medical magical amulet from the famed collection by Dr. Campbell Bonner.

An amulet is, “any object which by its contact or close proximity to the person who owns it, or to any possession of his, exerts power for his good, either by keeping evil from him and his property or by endowing him with positive advantages.” (According to Dr. Bonner’s definition, Bonner, C. Studies in Magical Amulets. Ann Arbor: University of Michigan Press, 1950. p. 2.)

Magical Amulets: http://www.lib.umich.edu/magical-amulets

I was working on the next installment of the Bubble/Blur series, but today is Rare Disease Day. A pretty special day, and pretty near and dear to my heart. Any time I wasn’t in meetings today, I was probably watching the inaugural NIH Rare Disease Day webcast, which was held partly in honor of the 20th anniversary of the existence of the NIH Office of Rare Disease Research. The event went on all day, and continues tomorrow.

Rare Disease Day @ NIH: https://events-support.com/events/Rare_Disease_Day/page/242

I didn’t get to see as much as I wanted. Not to diminish the other wonderful presentations that excited me so much throughout the day, but the most powerful part was at the end of the day, with the screening of the documentary “Here. Us. Now.”

Leading up to the screening, it was obvious from the atmosphere (which conveyed to me a sense of approaching awe) that the event planners knew we were about to see something very, very special.


Here. Us. Now. http://globalgenes.org/here-us-now/ Trailer: https://www.youtube.com/watch?v=LPK6pGFHAa0

“The Hempels’ story reveals the grim truth that rare disease is all too commonplace. Despite unprecedented investment in medical research and development, there are thousands of known rare diseases and disorders without treatments and cures. It’s a broken system moving at a tedious pace, and it leaves heart-rending personal stories in its wake.”

Both parents were experts in business with little knowledge of healthcare before their daughters were diagnosed with a rare fatal genetic disease (Niemann Pick Type C). Guess what? They are now the experts. They used their expertise in business to create what they describe as essentially a new business, a start up. It sounds almost like a “House that Jack Built” kind of story. The business focuses explicitly on doing the needed research, to share the results, to foster the necessary innovation, to drive the discoveries, to save their daughters’ lives.

What I was hearing as I listened and watched the movie were arguments in favor of a wholesale revisioning of the methods and practice and institutions of science, healthcare, publishing, and the governmental oversight agencies responsible for all of these. I want very much to have a chance to see the entire movie. I want to watch it closely. I want the DVD. I want to show it to people. I want to have a viewing here at the University of Michigan. I haven’t seen the entire movie, and I already want it to be required viewing for a wide range of people.

So you can better understand why I feel this way, I want to share just a few snippets of the ideas that most captured my attention in the tweets I sent while watching it, listening to them tell the story of the many barriers they encountered, and the solutions they created with determination, focused intent, planning, love, effort, and lots and lots of money; and the ways they used what they learn to advance the research in this area around the world, strategies they’ve share with other parents and families who share in these explorations and trials.

This is the story of one family. But this is also a story that encompasses virtually every major trend currently emerging in science and healthcare — the need for open access and open science, the empowered patient movement, personalized medicine, the difficult dynamic between transparency and privacy in healthcare and research, the shifting dynamic of how scholarship is defined and how knowledge is shared and how communities are built. These two parents have been transformed by their experiences with rare disease, have seized on to anything and everything that will let them make the difference they are trying to make. As a result, they are not just changing life for their own family, but for countless others. As they tell their story, they continue to change attitudes toward what is best practice in science research and healthcare innovation.

Another friend of mine said it rather well. This is not just what this one family is doing, although the story of the Hempel Family really is a lodestone for the entire conversation, but it is bigger than them. That is because all around the globe, every day, there are other patients and families doing the same kinds of things. Maybe not at the same scale or with the same scope, but trying to change things for themselves and others with their disease. Doing their own research and sharing it. Educating their doctors, who are NOT the experts in these rare conditions. Educating other patients on how to educate their healthcare team. And on and on. And what happens?

For the Hempels, they found not a cure, but a treatment. Something that helps. They were able to find friends and allies who helped them push it through the system, and get FDA approval to use this to help improve the quality of life for their children, and for others with the same condition. It really IS like magic. For the rest of us?

One response to “Rare Disease Innovation Driven By and Driving Open Science

  1. Pingback: A Culture of Blame: Stigma in the ER (Rare Disease Day 2015) | Emerging Technologies Librarian

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