Rare Disease Week on Capitol Hill

by Joe Ternullo

I just returned from Rare Disease Week on Capitol Hill, a spectacular and unique event that Pulse Infoframe was privileged to support. Over 500 patient advocates trekked to Washington, D.C., last week for this extraordinary event that has grown steadily since the inaugural annual event in 2010. Their mission—to amplify the voice of those living with rare disease—a mission Pulse Infoframe endorses and supports fully.

Commencing Sunday, Feb. 24 and continuing through Thursday, Feb. 28, this was an organized, potent combination of a collection of great thinkers and the best that society offers – collegiality, active listening, accessible resources, and a shared strategy for moving forward.

Rare Diseases May Be Rare, But They Affect Millions

There are over 7,000 rare diseases. More than 30 million Americans live with a rare disease. Ninety-five percent of rare diseases do not have an FDA approved therapy. Much more work needs to be done to improve those numbers. Therefore, throughout the week, we all united around these three pillars:

  1. Support robust funding increases for NIH and FDA
  2. Reauthorize the Newborn Screening Saves Lives Act
  3. Join the bipartisan rare disease congressional caucus

Hats off to the Everylife Foundation, the NIH and to the cadre of US Senators, US Representatives and congressional staffers who gave of their time so freely to give voice to living with, caring for or otherwise supporting the rare disease community.

Rare Disease Research Needs to Speed Up

It was refreshing and inspiring to witness Washington, D.C., united in its resolve to accelerate clinical research and improve the lives of those living with rare disease. Christopher Austin, M.D. Director, National Center for Advancing Translational Science made the point that at the present rate of research, it would take over 2,000 years to develop appropriate treatments for all rare disease–a disturbing fact to all of us.

Sharing Stories and Knowledge

The week started with a wonderful Sunday welcoming reception at the Ronald Regan Building and International Trade Center. A documentary, My Turn, which tells the story of Scott Matzka, a former professional hockey player and his firsthand perspective on how his life changed upon being diagnosed with ALS, followed.

Thereafter came the following events and activities:

  • an informative conference, planning and exhibits, of which Pulse Infoframe was pleased to be a part
  • a Lobbying Day breakfast, followed by scheduled meetings with members of the House and Senate
  • a young adult meet-up Tuesday evening
  • a Rare Disease Congressional Caucus Briefing in the Russell Senate Office Building
  • a group photo on the Capital steps
  • a rare artist reception

Thursday, Feb. 28, International Rare Disease Day, was a daylong meeting at the National Institutes of Health in Bethesda.

Help End Rare Diseases

Far from a “one-and-done” annual event, there are ample opportunities to bring this community of interest together and to increase its ranks. To help educate the next generation of rare disease advocates, the Everylife Foundation is supporting Rare on the Road in Boston, Birmingham, Denver and Sioux Falls.

Surely, Rare Disease Week reinforces one’s faith in the goodness of human nature. If you are not involved, get involved. Don’t wait until next year. Pulse Infoframe will continue to be involved and we look forward to seeing you at future events.

Joe Ternullo is the head of business development for Pulse Infoframe, a member of NQRN Advisory Committee and Co-Chair of the Society for Participatory Medicine

Group photo at Capitol HillGroup photo on steps of Capitol Hill

About Pulse Infoframe Inc.
Focusing on rare disease, cancer and patient reported outcomes, Pulse Infoframe, a new style health informatics company, delivers real-time analytics and visualization to improve outcomes, generate real-world evidence, and provide data insights and precision knowledge. Pulse aggregates data from multiple sources, making it available to relevant stakeholders and offering numerous benefits including dramatically improved efficiency, productivity, and collaboration. Pulse Infoframe is headquartered in Canada, with offices in the United States, and India.

More information is available at www.pulseinfoframe.com