Wednesday, February 25, 2015

Raising Awareness of Rare Diseases This Saturday

By Kelley Lindberg


There are plenty of times in life when being rare or unique is good. Having a rare artistic talent, for example, is a blessing. Having a rare skill that is in high demand, such as being able to track down security breaches in high-risk networks, provides lucrative prospects. Having a rare ability to choose winning lottery numbers would be especially nice.

But having a rare disease can be a nightmare.

Neither regular doctors nor specialists recognize your symptoms. Even if they do, there may not be enough medical data to tell them how to treat you. You can waste precious years trying to find out what’s wrong, steadily growing sicker as you try one false lead after another. Drugs and treatments, if they exist, are often astronomically expensive. Because it’s so rare, researchers don’t study it, and pharmaceutical companies don’t want to invest the average $1.5 billion it takes to bring a drug to market when they know only a handful of patients will ever pay for it. You feel like a guinea pig that doctors are just throwing darts at, day in and day out. And in some cases, you feel like you’re perched on the ragged edge of disaster every day.

My sister-in-law, Jennifer, has just such a disease. Hers is called MonoMAC, and doctors only know of 25 other people who’ve ever had this disease. You can read more about her here.

That’s why I’m happy to help spread the word about “Rare Disease Day,” which is the last day of February every year. That’s this Saturday, and the organization called Utah Rare is holding a half-day Rare Disease Day Symposium in Salt Lake City (with a wonderful array of speakers) to help spread awareness among the public as well as among policy makers, public authorities, industry representatives, researchers, and health professionals. The Saturday symposium is being modeled after the popular TED Talks, and it will be live-streamed and recorded.

In addition, Utah Rare will be holding a Rare Disease Day State House Event at the State Capitol Building Rotunda in Salt Lake City this Friday, from 3:00 – 5:00pm to reach legislators, legislative staff, the public, and the media.

Rare Disease Day isn’t just a Utah event—84 countries around the world participated in Rare Disease Day events last year.

Here are the details for the Saturday event:
  • Utah Rare Disease Day Symposium
  • Saturday, Feb 28, 2015
  • 12:00pm – 5:00pm (MST)
  • Eccles  Health Services Education Building, 26 S. 2000 E, Salt Lake City, UT 84112
  • Tickets: Free! But you need a ticket, so order them online at Utah Rare Disease Day Symposium

Confirmed speakers for the Saturday Symposium include:
  • Dr. Dean Li, Associate Vice President for Research and Chief Scientific Officer for University of Utah Health Sciences
  • Dr. Ed Clark, Chief Medical Officer of Primary Children’s Hospital and Chair of Pediatrics
  • Dr. Kevin Jones, Professor and Author of “What Doctors Cannot Tell You”
  • Dr. Gholson Lyon, Cold Spring Harbor Laboratory and Utah Foundation for Biomedical Research
  • Dr. Reid Robison, Chief Executive Officer of Tute Genomics
  • Dr. Robert Selliah, Chief Executive Officer of American Med Chem
  • Dr. Christopher Gibson, Chief Executive Officer of Recursion Pharmaceuticals
  • Crystal Shearman, producer of “Undiagnosed: Medical Refugees” film
  • Gina Szjanuk, Founder of Rare and Undiagnosed Network
  • Season Atwater, Founder of Aware of Angels

Come learn about rare diseases and the impact they can have not just on individuals, but on the community around them, and learn what’s being done to address these heart-breaking issues.

And if you happen to have a rare disease, know that events like this are going on all over the world this Saturday, and we’re all standing beside you.



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