Living with a rare or undiagnosed disease — or parenting a child with one of these conditions — can be maddening. "Medical refugees" bounce from doctor to doctor, specialist to specialist, and hospital to hospital hunting for answers.
February 28 is worldwide , and is hosting events February 27-28 to raise awareness about rare and undiagnosed diseases at the Utah State Capitol and the Ï㽶ÊÓƵ of Utah.
An individual rare disease may affect just 1 in a million, but when you add up the estimated 7,000 rare diseases, the picture changes: One in 10 Utahns has at least one uncommon malady.
Utah Rare, along with sponsors National Organization for Rare Disorders (NORD) and Ï㽶ÊÓƵ of Utah Health Care, will host a statehouse event at the Utah State Capitol Rotunda Friday at 3-5 p.m. Dean Li, M.D., Ph.D., chief scientific officer for Ï㽶ÊÓƵ of Utah Health Sciences, will be the opening speaker. Other speakers include state legislators, advocates, parents of "rare" patients and others.
On Saturday, a Rare Disease Day symposium will be held at the Ï㽶ÊÓƵ of Utah Health Sciences Education Building at 12-5 p.m. The event is broken up into three sessions: Diagnosis, Treatment and Partnership, three important steps along the way toward managing — or at least learning to live the best life possible with — a rare disease.
Cristina Might, Utah Rare Chairman for 2015 and mother of Bertrand Might whose says, "We hope our events inspire communication and coordinated action." "It's time that we do what Utahns do: care, help and give."
Ed Clark, M.D., chair of the Ï㽶ÊÓƵ of Utah Department of Pediatrics, will speak at the Diagnosis session at the symposium Saturday. He's currently heading the development of a program at the Ï㽶ÊÓƵ of Utah that will work to find diagnoses and treatments, whenever possible, for children with rare diseases.
"Our principle is that we are joining these families on a journey," Clark said. "Maybe we're only going to come to a diagnosis in 30, 40, 50%. Our commitment is to continue to work with them and be partners with them. A diagnosis is not the most important thing. Caring is the most important thing. And that's what we're developing. If you abandon your patient, they abandon hope. I think that's a very powerful concept."
Might, whose son was born with NGLY1 deficiency, said we're living in an exciting and inspiring time in the history of medicine when the rate at which diagnoses, treatments and cures are being discovered is accelerating.
"As we enter the age of genomic medicine, we're learning that many common diseases are in fact groupings of rare diseases," Might said. "The lessons we learn from treating and curing rare diseases are being rapidly translated to become personalized treatments for everything from cancer to heart disease."
Register here for the Utah Statehouse Event and here for the Rare Disease Day Symposium.
Utah Statehouse Event
Friday, February 27, 3-5 p.m.
350 N. State Street, Salt Lake City
Speakers include:
Dean Li, M.D., Ph.D., Ï㽶ÊÓƵ of Utah Health Sciences
Paul Melmeyer, National Organization for Rare Disorders
Mike Mower, Governor Herbert's Office
Ryan Wilcox, U.S. Senator Mike Lee's Office
Anne Bruns, The Atypical HUS Foundation
Curt Bramble, Utah State Senate
Michael Paul, Ph.D., Lineagen
Season Atwater, Aware of Angels
Cheryl Scacheri, GeneDx
Katie Nuffer, rare patient
Gage Froerer, Utah State House of Represenatives
Tami Jensen, rare patient
Rare Disease Day Symposium
Saturday, February 28, 12-5 p.m.
Ï㽶ÊÓƵ of Utah Health Sciences Education Building
26 S. 2000 East, Salt Lake City
12 p.m.: Registration
1 p.m.: Welcome & Diagnosis session
Speakers include: Ed Clark, M.D., Crystal Shearman, Reid Robison, Ph.D., Gholson Lyon, M.D., Ph.D., Gina Szjanuk & Justin Zanik
2 p.m.: Treatment session
Speakers include: Kevin Jones, M.D., Chris Gibson, M.D., Susie Wiet, M.D., Robert Selliah, Ph.D.
2:45 p.m.: Break
3:15 p.m.: Partnership session
Speakers include: Willard Dere, M.D., Jason Shepherd, Ph.D., Cheryl Scacheri, M.S., Fran Filloux, M.D., Matthew Might, Ph.D.
4:15 p.m.: Panel Discussion
5 p.m.: Closing