SALT LAKE CITY — “On Jan. 5, we got a potential diagnosis. On Jan. 6, they confirmed the disease. And on Jan. 17, Becky passed away.”
In a speech commemorating Utah’s second annual Rare Disease Day, Rep. Curt Bramble, R-Provo, again mourned the recent loss of House Speaker Becky Lockhart to Creutzfeldt-Jakob Disease.
The neurodegenerative disease is one of 6,800 diseases designated as “rare” by the National Institutes of Health. Though each disease affects fewer than 200,000 Americans, together they affect about 10 percent of the U.S. population.
“That someone as vibrant and as full of life as Becky Lockhart could be taken in two weeks, that really focused our attention on what the devastating effects of these diseases can be,” Bramble said.
Bramble’s was just one of several emotional addresses delivered at Friday’s rotunda gathering, which recognized World Rare Disease Day.
According to organizing group Utah Rare, the goal of Rare Disease Day events "is to ignite the changes necessary within our state to bring that future vision to dawn. Crucial to its realization will be the partnerships forged between families, healthcare providers, industry and government.”
As such, the program featured talks from University of Utah doctors, heads of nonprofit organizations and biotechnology firms, as well as state legislators and representatives from the offices of Gov. Gary Herbert and Sen. Mike Lee, R-Utah. Rare disease patients also spoke, as did their parents.
In addition to raising awareness of what life is like for sufferers of rare and undiagnosed diseases, organizers used Friday's event to muster support for several bills currently being debated in the Legislature, including controversial "right to try" legislation sponsored by Rep. Gage Froerer, R-Huntsville.
“Terminally ill patients have the right to choose what’s right for their life rather than have the bureaucrats back in D.C. make that choice,” Froerer said.
HB94 has passed the House and cleared a Senate committee. If passed by the Senate and signed into law by Gov. Herbert, the bill will allow terminally ill patients limited access to trial-phase treatments not yet approved by the FDA.
“I will tell you quite literally that if there were anything that could have given hope to the Lockhart family for those next two weeks as we watched her deteriorate, if there was anything to either arrest the progress of this very rapidly moving disease or that would have done anything at all, we would have said, ‘Yes. Let’s give it a try,'" Bramble said.
In their quest for better health care, advocates are also calling for a clinic for rare and undiagnosed diseases. Utah Rare is raising funds to open a joint clinic at the University of Utah and Primary Children's Hospital.
Season Atwater said it took five years of testing to finally diagnose her daughter Asia with 2q23.1 Microdeletion Syndrome, a debilitating genetic disorder. There were fewer than 100 known cases in the world when Asia was diagnosed.
“It would have been so amazing at this point to have a rare disease clinic," Atwater said, blinking back tears. "Instead, we went five years without a diagnosis.”
Atwater reminded the audience that rare diseases affect the families of more than 290,000 Utahns.
"My daughter’s diagnosis might be different, but there are thousands and thousands of families going through the same thing,” she said.
In continued commemoration of Rare Disease Day, Utah Rare will hold a rare disease research seminar Saturday afternoon at the University of Utah.
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