(Left to right) Laura Kirkpatrick and Deepa Rajan
Primary investigator Laura Kirkpatrick, assistant professor of pediatrics and of neurology, School of Medicine, and coinvestigator Deepa Rajan, associate professor of pediatrics, School of Medicine, have been awarded a $375,000 grant from the Rosenau Family Research Foundation. The grant will support Kirkpatrick's work to improve how pediatricians and health care providers tell parents of newborns that their child has tested positive for a rare condition called Krabbe disease, enabling earlier treatment interventions that improve the quantity and quality of life for affected children.
Although Krabbe disease (pronounced “crab-A”) is a rare neurodegenerative genetic disorder, affecting approximately one in 100,000 newborns in the United States, it is deeply familiar to Paul and the late Susan Rosenau, whose granddaughter died from the disease at age 2. With their 2008 Powerball winnings, they formed the Rosenau Family Research Foundation (formerly the Legacy of Angels Foundation) to help fund Krabbe disease and cystic fibrosis research efforts.
“This funding is extremely meaningful because the individuals behind this foundation have firsthand experience with this rare and devastating condition,” says Kirkpatrick, who is also a child neurologist and pediatric epilepsy specialist at UPMC Children's Hospital of Pittsburgh. “They know more than anyone how important it is that we—as physicians and health care systems—best support families who are receiving this news by connecting them with appropriate care and helping them understand the prognosis, test results and necessity of early therapeutic intervention.”
Pennsylvania is among 12 states that have added Krabbe disease to their newborn screening program, recognizing that early detection enables advanced therapies, like bone marrow transplants, to be administered before symptoms appear and to halt disease progression. However, Kirkpatrick notes that the rarity of the disease often means that pediatricians who deliver the test results might not know how to provide the best guidance to families who are receiving this diagnosis at a delicate time.
“It's important that results are communicated in a way that doesn’t exacerbate the inherent trauma of getting a diagnosis like this,” says Kirkpatrick. “There needs to be a familiarity on the part of pediatricians and other clinicians who disclose these results to best support parents.”
The goal of Kirkpatrick’s research is to create a clear and comforting way of helping parents understand and navigate their child’s diagnosis and connect every child with a positive Krabbe disease newborn screening result with centers that provide specialized care, like the Children’s Center for NeuroGenomics (CCNG) at Children's.
Regionally, nationally and globally, Children’s is a leader in the treatment of childhood conditions and diseases, a pioneer in the development of new and improved therapies and a top educator of the next generation of pediatricians and pediatric subspecialists. With generous community support, Children’s has fulfilled this mission since its founding in 1890. Children’s is also recognized consistently for its clinical, research, educational and advocacy-related accomplishments, including being nationally ranked in 10 pediatric specialties by U.S. News & World Report Honor Roll of Best Children’s Hospitals.
Children’s CCNG integrates clinical and research efforts to provide comprehensive care to children with complex neurological and developmental disorders and is a leader in treating Krabbe disease. The center’s efforts have helped to characterize Krabbe disease's natural progression and underscored the effectiveness of therapies like hematopoietic stem cell and bone marrow transplants. More than 20 bone marrow transplants have been performed at Children's to treat Krabbe disease.
“These rare conditions can’t just fall by the wayside because, while rare diseases are rare individually, they are common in aggregate—when someone has a rare diagnosis, it’s not 0.001%, it’s 100%,” Kirkpatrick says.
The project, “Disclosure of Newborn Screening Results for Krabbe Disease in Pennsylvania,” will involve interviews with pediatricians and families who received care at UPMC in Pennsylvania and a positive Krabbe result on their child’s newborn screening. These interviews with parents and providers will shed light on the experiences and challenges associated with provider communication of this sensitive result and how that communication influenced follow-up care for affected children. These interviews will also identify recommendations for ways to improve diagnosis communication. The researchers will then partner with families and providers, like pediatricians and genetics experts, to design care interventions that provide optimal disclosure of positive newborn screening results for Krabbe disease.