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Cure Sanfilippo joins in calling for addition to Cures 2.0 legislation

June 26, 2020

Cure Sanfilippo Foundation is one of 46 patient advocacy organizations to sign-on to a letter asking U.S. Representatives Diana DeGette (D-Colorado) and Fred Upton (R-Michigan) to include H.R. 4144 – Ending the Diagnostic Odyssey Act in the Cures 2.0 legislation.

The collective letter states: “The ‘Ending the Diagnostic Odyssey Act’ would allow states to conduct a pilot program to increase the Federal Medical Assistance Percentage rate (FMAP) to provide Whole Genome Sequencing clinical services for children on Medicaid with a disease that is suspected to have a genetic cause. We are eager to see this bill signed into law so this first-line test can be offered to families, regardless of income.”

It often takes years to receive a correct diagnosis of Sanfilippo Syndrome, which is identified by a physician-ordered “Urine MPS Screening” and confirmed by a blood test. Due to its rarity and lack of physician awareness, a child’s symptoms are often classified as developmental delay and/or autism and a thorough medical workup is never done to identify the underlying cause. Children with Sanfilippo Syndrome aren’t alone in this diagnostic odyssey. It often takes rare disease patients seven years of appointments, tests, incorrect diagnoses before they receive a correct diagnosis.

“Whole Genome Sequencing is a way for patients and parents looking for answers to get a definitive diagnosis.” said Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “It also is a single method for testing for thousands of rare diseases at once. With an accurate diagnosis, patients can begin appropriate management measures and optimize therapeutic outcomes.”

The Foundation and fellow co-signers hope the U.S. Representatives will consider including H.R. 4144 as they lead development of Cures 2.0 legislation.

The sign-on letter was coordinated by the Genetic Alliance.

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