When the federal Advisory Committee on Heritable Disorders for Newborns and Children (ACHDNC) was formed in 2006, they created the Recommended Uniform Screening Panel, also known as the RUSP.
The RUSP was created to be a minimum standard of diseases that should be included in a state’s newborn screening panel and are purely a recommendation, as each state maintains autonomy as to how many diseases it includes in its newborn screening program. However, states are often unwilling to add diseases that are not on the RUSP, therefore, this process is crucial to the advancement of Krabbe newborn screening
Krabbe NBS and the ACHDNC
In 2007, Hunter’s Hope nominated Krabbe Disease for inclusion on the RUSP, and it was not recommended by the committee at a vote of 8 to 7. The committee identified 3 evidence gaps that needed to be filled. In the years that followed, Hunter’s Hope has teamed up with medical and scientific experts to ensure the gaps identified by the committee were filled and that these advancements were published in peer reviewed medical and scientific journals.
After years of persistent effort, Hunter’s Hope, together with a team of medical and scientific experts, submitted the nomination package for Krabbe Disease to be included on the RUSP in June 2021. In May 2022, the ACHDNC voted unanimously to advance Krabbe Disease to full evidence review, which will conclude in February 2023. At that time, the ACHDNC will vote once again as to whether Krabbe Disease should be included on the RUSP.
The history of this process can be found here.
Below are some of the families who have helped us by providing public comments to the committee.Click here to learn more about the ACHDNC
Tygh’s mother, Amanda DeRossett shared her story at the November 3, 2022 ACHDNC Meeting. Without Kentucky screening for Krabbe disease, Tygh’s life would be much different.Click here to read Amanda's statement to the ACHDNC
Sofia’s mother, Kelly Bonacorsa shared her story at the November 3, 2022 ACHDNC Meeting. It was too late for Sofia to have treatment, because Virginia voted against screening for Krabbe disease. Sofia’s life could have been saved.Click here to read Kelly's comments
From Jacque’s comments: “Since 2009, when this committee last reviewed Krabbe and voted against its inclusion on the RUSP at a vote of 8 to 7, we know of 136 children who have been born in the U.S. and symptomatically diagnosed with Krabbe Disease, too late for disease altering treatment.”Click here to read Jacque's full statement at the May 2022 ACHDNC meeting
Christin Webb shared her family story in public comments at the May 2022 ACHDNC meeting to help the committee understand the importance of adding Krabbe disease to the Recommended Uniform Screening Panel.
Karlita Blackwell shared her family story in public comments at the May 2022 ACHDNC meeting to help the committee understand the importance of adding Krabbe disease to the Recommended Uniform Screening Panel.Click here to read Karlita's comments
Natasha, Kenan’s mom, shared her family story in public comments at the May 2022 ACHDNC meeting to help the committee understand the importance of adding Krabbe disease to the Recommended Uniform Screening Panel.