• The GFPD's Mission: To improve the lives of individuals with peroxisomal disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.
• Through these connections with medical and scientific professionals and family support networks, our foundation is a resource for families who have received a diagnosis of a peroxisomal disorder in the Zellweger spectrum, (including those formally known as Neonatal Adrenoleukodystrophy (NALD) and Infantile Refsum Disease (IRD), as well as single enzyme disorders D-Bifunctional Protein Deficiency (DBPD) and Acyl-CoA Oxidase Deficiency (ACOX deficiency).
• A peroxisomal disorder on the Zellweger spectrum means that the peroxisomes in your cells aren’t working properly, are absent, or are severely decreased.
• Peroxisomes are necessary for cell function, normal brain development, and the formation of myelin.
Here is the text of the email that you should send to the Health Legislative Aide! Dear NAME OF HEALTH LEGISLATIVE AIDE, I hope you are doing well! I’m writing today to ask for Representative LAST NAME to sign on to the following “Dear Colleague” letter from Congressman G. K. Butterfield and Congressman Markwayne Mullin regarding appropriations requests for newborn screening. Here is the link to the Dear Colleague letter: nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Furldefense.com%2Fv3%2F__https%3A%2Fquill.senate.gov%2Fletters%2Fletter%2F3343%2Fopt-in%2Fview%2Fc72f7dfd-4886-47e0-aadf-3f328e8ff1ff%2F__%3B!!Fr0YZsIsFWxTZsBm-qTAg68!0JfzlYsnZzsT9YESzh90oxCuXzMqd-Ne1Hc0TssOjL2P1MDgpn9KNpBavGtQsVOWS3FpnAbI024X%24&data=05%7C01%7CJNichols%40marchofdimes.org%7Cf114e4a5024f4a53b72008da220ecf0a%7Cd04741962ae84e50ae987cce17178c10%7C0%7C0%7C637859744259330700%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=%2FIrtkqpY2hnw5L4DUplKb9E8sTCfoVwHMECRiRpag80%3D&reserved=0 This appropriations request is especially important to me and my family. My daughter, Ginny, was born in 2008 and had there been newborn screening in place for her specific disease, we would have been able to get a diagnosis much sooner and avoid a lengthy two-year diagnostic odyssey, while also getting her the supports she needed! Unfortunately, many children with my daughter’s disease die very early on or in the middle the diagnostic odyssey. Children born with related peroxisomal disorders, like adrenoleukodystrophy, could receive treatment that can save their life. No child should die because their state doesn't have adequate newborn screening! Specifically, this appropriations request asks for $15 million in CDC funding to be set aside for timely implementation of newborn screening conditions with a goal of complete RUSP implementation in all 50 states by 2025. As you may remember from our previous discussions, the Recommended Uniform Screening Panel (RUSP) is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening programs. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. It is recommended that every newborn be screened for all disorders on the RUSP. Only 22 states are testing for all 4 diseases. Our goal is to ensure that every state has the funding it needs so that each state newborn screening lab is capable of testing all babies for ALL RUSP approved conditions. Here is the specific appropriations language should you need it: "We ask that you provide an appropriation of $44 million to the Centers for Disease Control and Prevention (CDC) for the Newborn Screening Quality Assurance Program. Within this total, we request $15 million be set-aside for timely implementation of newborn screening conditions with a goal of complete RUSP implementation in all 50 states by 2025. Today, only 22 states conduct newborn screening for all 35 RUSP-approved core conditions, and at the present rate, it will take states more than a decade to implement newborn screening for RUSP approved diseases for which treatment options are available to families. This delay would result in preventable deaths and disability. This $15 million in funding will support both staffing and equipment needs in every state to include all RUSP conditions, thus avoiding these preventable deaths and disability." I hope you will urge Representative LAST NAME to sign on to our “Dear Colleague” letter for newborn screening appropriations. Please feel free to reach out to me at any time with questions about this appropriations request which will save the lives of babies in our district, and across the United States. With gratitude, Your name (Melissa Bryce) Reason you are advocating (Mother of Ginny 8/5/2008 - 4/25/2015)
