Help end the “Diagnostic Odyssey” for rare disease, Cure Sanfilippo joins in asking of Congress

October 25, 2019

Cure Sanfilippo Foundation is among 107 organizations that co-signed a letter earlier this month to U.S. Rep. Peters (CA) and Rep. Shimkus (IL), thanking them for introducing HR 4144, the Ending the Diagnostic Odyssey Act. 

The legislation would allow states to conduct a three-year pilot program to increase the Federal Medical Assistance Percentage (FMAP) rate to provide Whole Genome Sequencing clinical services for children on Medicaid with a disease that is suspected to have a genetic cause.

Eighty percent of all rare diseases have a genetic cause. And rare disease patients average eight physicians and three misdiagnoses over the span of seven years before the correct diagnosis is discovered. This “diagnostic odyssey” causes patients to miss critical windows of opportunity for treatment, improved quality of life, and clinical trials, in addition to experiencing anguish and chronic uncertainty.

Chief Science Officer Cara O'Neill“The diagnostic resource that HR 4144 would create expedites early and accurate diagnoses of rare diseases, ending the emotional roller coaster of the ‘diagnostic odyssey,'”said Cara O’Neill, MD FAAP, Chief Science Officer for Cure Sanfilippo Foundation.

“Earlier diagnosis means patients can immediately start treatment, if available, that sustain or improve their quality of life or access a clinical trial for an experimental therapy,” said O’Neill. “This is especially critical in diseases like Sanfilippo Syndrome, where time is not on the side of patients.”

The letter, spearheaded by Genetics Alliance, is also being delivered to other members of Congress, requesting their co-sponsorship of this important bi-partisan bill. Select Senators are being asked to introduce companion legislation in that chamber.

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