"It should not be this hard to save a child's life."
ORCHARD PARK, NY / ACCESSWIRE / March 22, 2023 / In response to a federal advisory committee failing to recommend newborn screening for Krabbe disease as part of the national Recommended Uniform Screening Panel (RUSP), the Hunter's Hope Foundation is calling for impactful federal policy changes that will help save children's lives.
Hunter's Hope launched a public awareness campaign following a vote last month by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to reject the Foundation's nomination for Krabbe disease to be included on the RUSP. If the 7 to 7 vote stands, it will keep most states from adding Krabbe disease to their newborn screening (NBS) panels and deprive the majority of future U.S. babies born with Krabbe disease of the opportunity to receive potentially life-saving treatment. ACHDNC members who voted against adding Krabbe to the RUSP have yet to provide a reason for their decision.
In the first days of life, virtually all the nearly 4 million infants born in the U.S. annually are screened for several diseases, via a small heel prick. Designed to be a minimum standard of diseases that should be included in a state's newborn screening program, the RUSP was created by the ACHDNC to make decisions about diseases that are recommended for newborn screening. Since the initial diseases were included on the RUSP in 2006, the committee has only voted to recommend the addition of eight diseases for newborn screening.
Hunter's Hope first nominated Krabbe disease to the RUSP in 2009, when it was not added by a vote of 8 to 7. Since the committee's first vote on Krabbe in 2009, the families of 136 children who were diagnosed with Krabbe disease too late for treatment have registered with Hunter's Hope. Receiving a diagnosis of Krabbe disease once symptoms of the disease occur is a death sentence. 100% of these children will die, usually by the age of two, and they experience tremendous suffering in their short lives. Currently, ten states include Krabbe in their newborn screening panel.
For more than a decade, Hunter's Hope worked closely with medical and scientific experts from around the country to meticulously address the issues raised in 2009. Once each issue was addressed, Hunter's Hope re-nominated Krabbe disease to the RUSP in July 2021.
Families impacted by Krabbe disease gave public comments to the committee. As one mother accurately stated in her public comments to the committee, "Krabbe without early diagnosis has no chance of survival. Newborn screening gives our kids a chance for treatment and the chance to live…"
"At a time when newborn screening should be flourishing due to tremendous scientific advancements for rare diseases, it should not be this hard to save a child's life," said Jill Kelly, Co-Founder, Hunter's Hope Foundation. "Unfortunately, we've heard from other rare disease groups that the committee's decision on February 9 is discouraging them from nominating their condition for inclusion on the RUSP."
Following the February ACHDNC meeting, the Hunter's Hope Foundation, together with a team of medical and scientific experts, appealed earlier this month to U.S. Secretary of Health and Human Services, Xavier Becerra, to provide the tie-breaking vote regarding the inclusion of Krabbe disease on the RUSP. As part of its awareness campaign, Hunter's Hope is asking people to appeal to Secretary Becerra by sending a letter available on the Hunter's Hope website.
"While we're immediately focused on getting Krabbe disease added to the RUSP," shared Kelly, "we're really advocating that more rare diseases are added so that more children's lives are saved."
To learn more about Krabbe Newborn Screening, please visit https://www.huntershope.org/newborn-screening/achdnc/.
About the Hunter's Hope Foundation
The Hunter's Hope Foundation was established in 1997 by Jim Kelly and his wife Jill, after their infant son, Hunter (February 14, 1997 - August 5, 2005) was diagnosed with Krabbe Leukodystrophy, an inherited fatal nervous system disease. While Jim and Jill have been blessed with the opportunity to share Hunter's story and the hope of the Foundation named after their son all over the world - their greatest passion is to bring encouragement and hope to families in the midst of suffering. Learn more at www.huntershope.org.
Media Contact
Anna Grantham
Hunter's Hope Foundation
Office: 716-667-1200
Cell: 251-300-4321
Email: anna@huntershope.org
SOURCE: The Hunter's Hope Foundation
View source version on accesswire.com:https://www.accesswire.com/745290/Hunters-Hope-Foundation-Calls-for-Changes-to-Federal-Policy-Preventing-Children-from-Receiving-Potentially-Lifesaving-Treatment
