Honoring Those Who Live To Cure On NIH Rare Disease Day

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Today, February 27, 2015, is Rare Disease Day at the National Institutes of Health (NIH), marking the eighth annual celebration of Rare Disease Day. The observance was first conceptualized by Rare Diseases Europe (EURORDIS) in 2008. It then came to the U.S. in 2009, thanks to the National Organization for Rare Disorders (NORD). At the NIH specifically, Rare Disease Day is a day-long celebration recognizing the work being done by their researchers to cure rare diseases. Events will be held at the Institute’s Masur Auditorium in Bethesda, MD.

Given the role the NIH has played in our efforts to save Jon and others suffering from rare diseases, we see NIH Rare Disease Day as our annual opportunity to truly appreciate, support, and honor those who make it their life’s work to find cures for rare diseases – and we’d like to highlight some of these ongoing efforts.

How NIH Rare Disease Day Helps Our Cause

How does NIH Rare Disease Day help our cause at SAVE JON? As an innovative collaboration project working to cure a rare disease outside the traditional boundaries of medical research, our doctors, researchers, and partners all benefit from the awareness that this event brings year after year. As NIH scientists devote their lives to developing new therapies for rare disease patients, promoting its work to the general public is hardly a priority. That’s why today, we’re seizing the opportunity to:

  •  Demonstrate the NIH’s commitment to rare diseases;
  • Review the current status of research, diagnostics, and treatments being developed for rare diseases;
  • Facilitate conversations between researchers, patients, and policy makers; and,
  • “Put a face” on rare diseases by sharing stories of patients and their families.

The agenda for NIH Rare Disease Day features a series of talks, poster presentations and exhibits showcasing the work being done to help cure rare diseases through innovative medicine, including the organization’s work with partner groups like NORD, NCATS’ Office of Rare Diseases Research, and the Genetic Alliance. There will also be Clinical Center Tours, to offer attendees a true glimpse at what the NIH’s work looks like.

Life For Those Living With A Rare Disease

There are approximately 7,000 rare diseases that have been identified in the U.S., which affect nearly 30 million Americans. Not only do rare diseases impact a deceptively large portion of the population – they often lead to a life-altering, traumatic, and tumultuous experience for the individuals and their loved ones as well. Rare diseases are often chronic, debilitating, and life-threatening. Patients and their families must deal with a seemingly endless gauntlet of obstacles to getting better. Worse, delays in obtaining a diagnosis, emotional stress, and lack of support programs can make the process far more difficult than simply being sick would.

In addition, information about rare diseases is often hard to come by, leaving those who have been impacted feeling underinformed and uncertain about what the future may hold – and funding research to cure them is costly. That’s why NIH Rare Disease Day is so important. By raising awareness of the work being done to eliminate these obstacles, we can encourage those who support the NIH’s mission to contribute however they can.

The theme of this year’s event is “Living with a Rare Disease,” and to get a glimpse into that world, we need look no further than Jon himself. For Jon and other primary sclerosing cholangitis (PSC) patients, the disease, of course, has a physical impact: discoloration of the eyes, incessant itching, and a high risk of infections and complications from therapeutic procedures can take a hard physical toll on the patient – this is part of what it means to have a rare disease like PSC.

Then there’s also the emotional toll that rare diseases take. Since Jon’s PSC diagnosis, his family has faced enormous challenges. Lisa Boyette, MD, PhD, Jon’s sister and our founder, watched her parents go gray in the corridors of hospitals. Not knowing what exactly is making Jon sick adds to the frustration, confusion, and range of emotions his family continues to face daily.

Now, multiply these experiences by 30 million. That’s the true impact of rare diseases in the U.S.

Thank You, NIH (And More!)

The NIH and other institutions worldwide are making great strides toward eliminating the anguish that rare conditions cause – and we’d like to take this opportunity to thank Jon’s research champions at the NIH: Dr. Dan Kastner, Dr. Paola Pinto-Patarroyo, Dr. Theo Heller, Dr. Amy Klion, their teams, and all of the amazing support staff at the NIH Clinical Center.

SAVE JON stands with the NIH in its efforts to attain the best possible health outcomes for patients suffering from rare diseases like PSC. Because just like them, we live to cure.

You can learn more about NIH Rare Disease Day at NIH.gov.

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