CHOP Launches Leukodystrophy Center of Excellence for Children With Degenerative Inherited White Matter Diseases

The Calliope Joy Foundation Hosts “An Evening with Jim and Jill Kelly from Hunter’s Hope” to Support this New Initiative

Published on in CHOP News

The Children’s Hospital of Philadelphia (CHOP) announced the launch of a Leukodystrophy Center of Excellence at the Calliope Joy Foundation’s “An Evening with Jim and Jill Kelly” gala at the Rittenhouse Hotel on Friday, May 15. 

About leukodystrophies and the Hunter's Hope foundation

The leukodystrophies are a group of rare, inherited disorders that affect the white matter in the brain and spinal cord resulting in developmental regression and premature death. Although these diseases do not currently have cures, if detected in the newborn period, a stem cell transplant may be a therapeutic option for some patients. Early detection also allows for preventative care strategies to improve quality of life for children and their families.

Hall of Fame Quarterback Jim Kelly and his wife, bestselling author Jill Kelly, established Hunter’s Hope in memory of their son who died from Krabbe disease, a type of leukodystrophy. For the past decade, the Kelly’s have been staunch advocates for newborn screening of for Krabbe disease and have been instrumental in creating Leukodystrophy Care Centers across the nation.

Legislation leads to enhanced newborn screening, need for specialized care

CHOP’s Leukodystrophy Center of Excellence is a diagnostic, clinical care, and research initiative launched in response to legislation in Pennsylvania and New Jersey that has added Krabbe and five other related diseases in Pennsylvania, and four others in New Jersey, to the newborn screening panel. This will result in an increase of patients requiring specialized and integrated clinical care. CHOP’s new leukodystrophy initiative was established to support the needs of these families. 

“This impactful legislation will result in earlier diagnosis of children with a leukodystrophy, a key aspect to offering more effective treatments that have potential to prolong life,” said Brenda Banwell, MD, chief, Division of Neurology at The Children’s Hospital of Philadelphia. “The Children’s Hospital of Philadelphia launched the Leukodystrophy Center of Excellence recognizing the increased need for families to obtain state-of-the-art laboratory and imaging diagnostics and integrated multidisciplinary care from top specialists across CHOP. The new initiative is also dedicated to developing new evidence-based treatments so desperately needed to help these children.”

The Leukodystrophy Center of Excellence will further benefit all children living with a leukodystrophy by providing a multidisciplinary program to address their complex medical needs. This clinic is comprised of experts from neurology, metabolics, rehabilitative medicine, physical therapy, occupational therapy, and complex care pediatrics. Additionally, CHOP will offer a clinic specifically for infants identified by expanded newborn screening programs, and will establish new research to advance treatment options for these currently fatal diseases.    

“This type of comprehensive approach is a critical component in the treatment of children living with inherited white matter diseases,” said Amy Waldman, MD, medical director, Leukodystrophy Center of Excellence at The Children’s Hospital of Philadelphia. “We are so grateful for the outpouring of support by the Philadelphia community including the Calliope Joy Foundation, Hunter’s Hope, The University of Pennsylvania Orphan Disease Center, and many others.”

Philanthropy to fund clinical programs and research

The money from the Calliope Joy Foundation’s “An Evening with Jim and Jill Kelly” gala will fund clinical programs, design treatment plans, create imaging and laboratory diagnostics, create the newborn screening evaluation clinic, and establish a pilot research program to advance treatment options at CHOP. The following day, the Philadelphia community will gather at the “Every Step Walk” to benefit Hunter’s Hope Foundation in support of CHOP’s Leukodystrophy Center of Excellence.

"This is a game changing moment for the care and treatment of Leukodystrophies and we are so pleased the doctors and researchers at CHOP believe they can give hope to the children and families that was unimaginable not long ago," said Maria Kefalas, Calliope Joy Foundation.