| |
|
|
| |
|
|
| |
Meghan's Story
Taking research from bench to bedside in tug-of-war with NF
When Maggie and Steve Presing’s pediatrician noticed light brown spots on their baby, Meghan, there was no way for these new parents to know what they had in store.They were referred to the Children’s National Medical Center Neurofibromatosis Program , where little Meghan was diagnosed with type 1 Neurofibromatosis (NF), a genetic disorder that causes tumors and skin and bone abnormalities. The light brown spots on Meghan’s body, known as café-au-lait spots, are a telltale sign of NF. Maggie and Steve had little time to process the diagnosis before they learned that Meghan had a tumor on her spine. At 13 months old, she underwent neurosurgery to remove it.
Now 13 years old, Meghan has thrived despite many complications from NF. At age 2, Meghan started chemotherapy to treat an optic nerve tumor. She also had a shunt inserted to relieve excess fluid, and just this past summer, she had another surgery to remove a tumor from her neck.
For the Presings, who live in Virginia, having a world-class program in their own backyard is a relief. Children’s Neurofibromatosis Program, led by renowned neurologist Roger Packer, MD , and geneticist Cynthia Tifft, MD, is one of the largest in the country, treating more than 800patients. Children come from across the country – and around the world – to receive treatment at Children’s.
“Children’s has an incredible team of doctors, nurses and support staff,” explains Maggie.“What we appreciate the most is the continuity of care that Meghan receives from the entire team. She has been seeing Dr. Packer since she was a baby, and we have access to all the specialists we need.”
Named a Center of Excellence by the National Neurofibromatosis Foundation (now the Children’s Tumor Foundation), Children’s brings together a highly specialized multidisciplinary team, easing the way for families coping with this illness. Patients have access to genetics, neurology, orthopaedic surgery, plastic surgery, ophthalmology, neuropsychology, genetics counseling, and social work, all in a family-centered environment.
In addition to being treated at Children’s, Meghan also attends Camp New Friends . Sponsored by Children’s in collaboration with Neurofibromatosis, Inc. , Camp New Friends provides opportunities for children living with NF to build self-esteem, gain independence and establish social connections with other children and staff with the disease. Meghan has a group of friends who come to camp from around the country.
“This was my second year going, and at first it was a little hard, but I saw my friends and got into the swing of things after a day,” explains Meghan. “My favorite things were the rope climbing and zip line."
"We’re trying to look at this disease from all aspects, including genetic, biologic and molecular angles, to ease the burden for children living with neurofibromatosis," said Dr. Packer.
|
Meghan also has been involved with research at Children’s involving developmental and cognitive responses in children with NF. The hallmark of Children’s Neurofibromatosis Program is its ability to take clinical observations to the lab, and efficiently study and convert findings to improve patient care. Historically a leader in translational research, Children’s is able to fully integrate research with clinical care. In fact, the chemotherapy protocol used to treat Meghan’s optic nerve tumor was developed by Dr. Packer and is now the standard of care around the world.
Children’s Research Institute , the academic arm of Children’s National Medical Center, is located on the top floors of the hospital, allowing physician scientists to excel at translational research. Of the hundreds of studies currently underway in Children’s Research Institute, nine of them focus on NF.
Dr. Packer, executive director of the Center for Neuroscience and Behavioral Medicine at Children’s, is a leader in translational research for children with NF. Children’s was recently named one of eight institutions for the Department of Defense’s Neurofibromatosis Clinical Trials Consortium, with Dr. Packer serving as group chair.
This research is just one example of the pioneering research that Children’s scientists are leading to improve the overall quality of life for thousands of children coping with NF like Meghan.
Seeing his patients lead fulfilling lives is gratifying for Dr. Packer, but it’s just the beginning. “We aspire to advance our research and apply it to clinical care, so that this common but devastating disease can be effectively managed just like other chronic disorders, such as diabetes, until we find a cure.”
|
|
|
|
|
|
