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Say cheese!

As many of you know, the Hermansky-Pudlak Syndrome Network is constantly trying to publicize our story in hopes of finding and helping more families impacted by this rare type of albinism.

When I first became involved, I suffered from “the Oprah syndrome.” It’s a common malady among those of us desperate for help with stories to tell. Last year at a meeting of the Genetic Alliance, I heard someone else refer to it as “the Oprah syndrome” and after four years of having every relative and acquaintance tell me, “What you need is to get on Oprah,” it seems an apt name.

No problem. I’ll get right on that. I’ll just call up my buddy Oprah and work something out.

At one point I traded a few e-mails with a producer for Dateline NBC – but nothing came of it.

Four years ago I organized a letter writing campaign to the Oprah show. At one point I had at least 200 letters and e-mails hitting Oprah’s poor producers a week – yet not one of us ever heard a response and after a few months our writers became discouraged.

I still lob the occasional e-mail at Oprah, but only when I’ve got nothing better to do.

Over the years when we’ve had news that the rest of the world might actually care about, I’ve gone on PR blitzes. I’ve sent out hundreds of press releases. I’ve called hundreds of newsrooms. Occasionally we get lucky and get a piece in local media somewhere. And, thanks to an amazing PR person in Puerto Rico, the Puerto Rico conference got amazing coverage on the island.

But, I feel like a failure.

I work in the media. I’ve been a reporter for 10 years now. I know the difference between yet another sick person whining on about the need for a cure, and a story that’s actually interesting and different. Why doesn’t anyone else get it? Could it be that they don’t believe a mom on Long Island and a rag tag bunch of people with albinism and a host of other medical problems like colitis and pulmonary fibrosis could really be doing what we’re doing? Or, maybe I’m just really bad at telling the story.

But, finally, someone gets it.

This year at conference we’re being joined by a film crew from the Stanford University Center for Biomedical Ethics. They’re making a documentary about how patient advocacy groups are changing medical research. They get it! And, they’ve got a great track record. They’ve created several Emmy award-winning films, many of which have been aired on PBS.

The HPS Network will only be a small part of the documentary they’re planning, but I’m thrilled they’re coming to meet us and hear our stories. They’re also planning to join me on one of my follow-up visits at NIH. There will be three patient groups featured, and we’ll be the one starting a clinical trial.

I’m copying the summary of the project that appears on their Web site below. You should also check out their Web site at:
http://medethicsfilms.stanford.edu/.

CITIZEN SCIENTISTS
This film will document the rise of patient advocacy groups, and their increasingly dramatic impact on the nature and scope of scientific research. In the last 10 years, the parents of children with genetic disorders, often connecting through the internet, have founded blood and tissue banks that give them the leverage to work with the scientific community, and change the direction of their research. Energized by the drive to save their own children, the groups' goal is to focus research in directions leading most rapidly to treatment. The accomplishments are astounding: genes for several disorders have been found (with advocates names on some of the papers and patents), genetic tests are on the market, and now some treatments are beginning clinical trials. But what does this mean for scientists? What is the relationship and obligation of the researchers to their subjects?
CITIZEN SCIENTISTS will follow three groups at different stages in their quest for a treatment - one at the beginning stages of formation, one whose gene discovery has lead to a genetic test, and one group at the beginning of a clinical trial. The film will explore the way that these groups are dramatically changing the traditional model of scientific research, and look at the ethical and social issues raised by this change.

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