Supplemental screening for krabbe disease now available. Everytime. Everywhere

30.01.2012

FOR IMMEDIATE RELEASE:
October 28, 2011

MEDIA CONTACT:
Anna Grantham
Hunter’s Hope Foundation
Office: (251) 300 4321
anna@huntershope.org

Hunter’s Hope Foundation celebrates while continuing to advocate for Krabbe NBS through expanded & universal state programs

Orchard Park, NY – Hall of Fame Quarterback and Hunter’s Hope Founder Jim Kelly and his wife Jill are elated to announce that a test that could have saved their son Hunter (February 14, 1997 – August 5, 2005) is now available to Every Child. Every Time. Everywhere. TM

As of October 2011, supplemental newborn screening for Krabbe Leukodystrophy, as well as five similar Lysosomal Storage Disorders, is available through PerkinElmer Genetics LSD Supplemental Newborn Screening Packet. The Krabbe newborn screen, which was once available only to babies born in New York State, is done through a simple heel prick within the first few days of life.

“The NY Krabbe newborn screening program has identified over 240 babies at possible risk of this devastating disease in New York State alone since 2006,” said Jacque Waggoner, Hunter’s Hope Foundation CEO and Hunter Kelly’s grandmother.

“Think of how many babies could be identified if each state included Krabbe in their newborn screening program. Advocating for Krabbe newborn screening continues to be one of our highest priorities,” she continued, “but until every state is screening for it, we are so thankful that babies can now be screened for Krabbe through this new supplemental packet. Now our focus is on letting expectant parents know that supplemental newborn screening is an option. We are also trying to get this important message out to the medical field and the community.”

Krabbe Leukodystrophy is a genetic disorder that affects the myelin, or white matter, of the brain. If undiagnosed in a timely manner and left untreated, it can cause patients to suffer immense pain and ultimately, death. Treatment is now available in the form of cord blood transplantation; however, early diagnosis is the key to successful outcomes.

offers the best chance at diagnosis before the onset of symptoms, at which point it is too late for the option of transplant for most babies.

“When Hunter was first diagnosed at four months of age, we were told that he would not live to see his second birthday,” said Jim Kelly. “Well, Hunter was a fighter and lived to be eight and a half. We continue his fight by educating families, doctors, and legislators, anyone who will listen, on the importance of newborn screening. Education and advocacy in honor of Hunter is the Kelly Family’s life long commitment,” he added, “One that we are proud to take on.”

Although every state screens their newborns for potentially life-threatening disorders at birth, the number of diseases screened for varies by state. Essentially, this means that a baby’s chance for a healthy life depends on the state in which they are born. By purchasing a supplemental newborn screening packet, parents can ensure that their baby is screened for the maximum number of diseases possible.

The PerkinElmer StepOne®/LSD Newborn Screening Packet, which offers screening for over 60 diseases, including Krabbe and five additional Lysosomal Storage Disorders, is available through the Hunter’s Hope website at www.huntershope.org.

To celebrate the release of this packet, Hunter’s Hope is also giving away a StepOne®/LSD Newborn Screening Packet each month. To enter to win for yourself or on behalf of an expectant loved one, visit www.huntershope.org.

About Newborn Screening
Newborn Screening is a state-based public health system. All babies born in the U.S. receive newborn screening; however, the number of diseases a child is screened for is dependant upon the state in which the child is born. Because many diseases can be treated if detected early enough, expanded and universal newborn screening programs are essential for giving every child a fair chance at a healthy life.

About the Hunter’s Hope Foundation
Hunter’s Hope was established in 1997 by Founders 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. The primary goals of Hunter’s Hope are to: ensure early detection through newborn screening of all possible diseases, advocate for improved newborn screening standards across the United States, fund research necessary for the treatment and detection of Krabbe and other Leukodystrophies and support affected families through programs including an Annual Family and Medical Symposium, Hunter’s Homes and more.

Support for newborn screening educational materials and legislative initiatives are made possible in part by our strategic partner, NFL Charities through their NFL Player’s Grant.

www.huntershope.org

Myelin Projekt-Kommentar: Welche Krankheiten in einem Neugeborenen-Screening erfasst werden sollen, ist in Deutschland ein Politikum. Entscheidungen dazu werden in Bundesgremien gefällt.

Zurück