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When Levi Wibberley was only five months old, he progressively became unsettled and agitated. His parents thought he was just teething, but their parenting instincts told them there was a much bigger problem when they could not find a way to soothe him. They sought medical advice close to home in Australia, but most of the doctors could not find a reason for Levi’s issues. After seeing eight doctors and three visits to the emergency room, Levi worsened. He suddenly stopped eating and began to lose mobility in his extremities and his head.
At eight months, Levi was diagnosed with Krabbe Disease by a neurologist at Princess Margaret Hospital for Children in Subiaco, Western Australia.
Krabbe Disease, also called globoid cell leukodystrophy, is rare a degenerative disorder that destroys the protective coating of nerve cells in the brain and nervous system. It is caused by a deficiency of the galactosylceramidase enzyme, leading to the nerves in the brain and other parts of the body functioning improperly.
Doctors told the family that Levi was only one of four known cases of Krabbe Disease in Australia. The hospital had little experience in dealing with the rare disease, so Ashley took to the Internet and spoke to other families of children with Krabbe Disease to try and find a physician who had the expertise to treat Levi. She found Maria Luisa Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in The Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.
Dr. Escolar consulted with the family on Levi’s progressively worsening systems and recommended Levi be treated in Pittsburgh where experts have seen numerous cases of the rare disease. With the help of the International Services Team, Levi and his family made arrangements to travel to Children’s Hospital.
“Neil Smalley and the international team were extremely welcoming and helpful,” notes Ashley. “They made the difficult journey a lot easier.”
Once he was admitted to Children’s, Levi underwent a series of tests to determine the extent of the disease and to make recommendations for further treatment. Tests included an MRI, in depth hearing tests, cognitive visual eye tests, and nerve conduction tests. Physicians at Children’s confirmed the Krabbe Disease diagnosis and developed a treatment plan for his return to his home country.
After being ruled out as a candidate for a bone marrow transplant, physicians prescribed a combination of medications, physical and other therapies, and specific equipment designed to make Levi’s life easier and day-to-day care more comfortable.
Five days later, Levi returned home to Australia.
Despite the loss of mobility in his arms and legs and decreased head control, Levi is feeding well. His family is quick to note that Levi always provides an abundance of laughs, smiles, and kisses. Doctors predict his life expectancy at two years as the disease continues to affect his nervous system, which can lead to a loss of mental and motor function, deaf and blindness, and an inability to move or speak. Despite the odds, Levi’s family is optimistic about the treatment plan developed by the experts at Children’s Hospital.
“Levi seems to be holding his abilities very well and we try to keep him in amazing health,” says Ashley. This gives us hope that Levi will stay with us a little while longer.”
As a result of the care they received in Pittsburgh, Ashley and her family are reaching out to the staff at Princess Margaret Hospital to provide information and guidance to future families who may be affected by Krabbe Disease. They are also organizing a charity for families to receive financial help should they need to travel to Children’s Hospital for care.
“We cannot speak highly enough of the care we received at Children’s Hospital,” says Ashley. “With the information passed on and provided by Children’s Hospital, we now have direction and a care plan to make Levi’s days full of quality.”
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with a rare disease, please contact:
Jodie Vento, MGC, LCGC
Phone: +1-412-692-RARE or 412-692-7273
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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