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Treating children with rare diseases “is more than a job,” says Jerry Vockley, MD, PhD, chief of Medical Genetics at UPMC Children's Hospital of Pittsburgh. “You do it because you can’t imagine doing anything else.”
And he experiences the rewards of this work when he sees its impact on patients. He recalls in particular one little girl who at eight months old was diagnosed with a rare disorder that meant she could not digest protein.
“She needed a special medical formula that tasted terrible, and she just couldn’t take it by mouth, so for the first six years of her life she got her nutrition through a nasogastric (NG) tube,” Dr. Vockley says. “Her family was told that if she remained on the NG tube, she wouldn’t be able to go to the local school in their small town. So we worked toward getting her off tube feeding.”
“By the time she was ready to start kindergarten, she was getting her nutrition entirely by mouth and would be able to go to school. Her family held a party in the town square to celebrate. I was invited, and to see the change we had been able to achieve in that little girl––from the time I first saw her to her being able to go to kindergarten without an NG tube––was a pretty special moment.”
Dr. Vockley graduated from the University of Pennsylvania School of Medicine in Philadelphia in 1984 with both a medical degree and a doctorate in genetics. He completed a residency in pediatrics at the Denver Children's Hospital in 1987 and a fellowship in pediatrics and human genetics at Yale University School of Medicine in 1991. He then joined the faculty of the Mayo Clinic School of Medicine, where he established an Inborn Errors of Metabolism Clinic. He is board-certified in pediatrics, clinical genetics, and biochemical/molecular genetics.
In 2004 Dr. Vockley came to Children's Hospital of Pittsburgh to head the Division of Medical Genetics. He is also a professor of pediatrics at the University of Pittsburgh School of Medicine and a professor of human genetics at the Pitt Graduate School of Public Health. He directs an active research program on inherited disorders of energy and protein metabolism, focused on both understanding the genetic causes of these disorders and developing new treatments for them. His research has earned National Institutes of Health (NIH) support continuously since the early 1990s. He currently holds three NIH research grants.
The diseases Dr. Vockley treats are all related to defective enzymes, special proteins in the body that carry out chemical reactions. “Our bodies carry out thousands of chemical reactions every second,” he explains. “If there’s a mistake in a gene that carries the instructions for a specific protein, that leads to an enzyme that doesn’t work properly, which creates chemical imbalances.”
Substances such as glucose (sugar) and protein that the body normally breaks down to use for energy instead build up to toxic levels in the blood and body tissues. “Because our bodies need energy for everything we do, a disorder of energy or protein metabolism puts children at risk for liver failure, brain damage, and other serious health problems,” Dr. Vockley continues. The Center for Rare Disease Therapy at Children’s is currently running clinical trials on three new medications to treat disorders of energy metabolism. These medications are among the therapies offered here that are available nowhere else in the world.
The Center for Rare Disease Therapy is special not only because of the world-class expertise of its specialists but also because of its focus on family-centered care, says Dr. Vockley.
“Family-centered care is crucial for rare disorders,” he says. “Therapies are often complicated, extended, and for frightening for kids. Having the family intimately involved with care is key to making that therapy acceptable.
“We offer families the experience we have gained from having taken care of many children with these rare conditions. We learn from every patient and we try to apply what we learn to the next patient.”
Moreover, care provided at the Center for Rare Disease Therapy is genuinely multidisciplinary, Dr. Vockley adds. “There are no barriers between specialties here. If there is an important aspect of care that’s outside the primary physician’s area of expertise, there will be no hesitation about bringing in the best person to meet that need. So families can feel comfortable that, no matter what type of care their child needs, he or she will get it.”
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