Children's Hospital using conference to launch its Center for Rare Disease Therapy
February 19, 2016 12:00 AM
A conference today will kick off Children’s Hospital of Pittsburgh of UPMC’s new center on rare diseases.
By Joe Smydo / Pittsburgh Post-Gazette
About 12 years ago, as doctors at Children’s Hospital of Pittsburgh of UPMC wrestled with how to better treat patients with a rare condition called maple syrup urine disease, they hit upon a new approach: Liver transplant.
Since then, more than 60 children have received transplants relieving them of a disease that can cause brain damage. “It’s an amazing kind of transformation of care,” said George V. Mazariegos, chief of pediatric transplantation.
UPMC hopes to encourage more of such breakthroughs with a conference today on rare diseases. Speakers include Dr. Mazariegos; Jerry Vockley, director of the hospital’s new Center for Rare Disease Therapy; and Edwin Naylor, a South Carolina-based specialist in infant disease screening. Also speaking will be U.S. Sen. Bob Casey Jr., who has sponsored legislation to encourage research into rare diseases.
Dr. Vockley called the conference the public launch of the new center, which aims to bring together the few experts in various rare diseases to standardize treatments and develop new ones. He predicted the work will reassure “frustrated, scared, uncertain” parents, and Mr. Casey, in an email, said these families need help navigating the health care system.
“To be able to find a center that really focuses on rare diseases gives the parents a chance to say, there is some hope here,” Dr. Vockley said.
Twelve years ago, Dr. Mazariegos said, physicians and parents alike were frustrated with existing approaches to maple syrup urine disease, so-named because of the smell it gives to urine. The standard treatment was a heavily restricted diet with no guarantee of success. Today, transplant is a main treatment, and the innovation has paid off in multiple ways.
Children’s has a 100 percent success rate with the transplants, and organs removed from the MSUD patients can be put into other children needing livers for other reasons, without transplanting the maple syrup urine disease. That’s because the livers are healthy except for their inability to produce certain enzymes, and the average person is able to get enough of those enzymes from other parts of the body.
The new center also will serve as an umbrella for the hospital’s 5-year-old initiative in rare neurological diseases. Maria Luisa Escolar, director of the Program for the Study of Neurodevelopment in Rare Disorders, works with patients and trains clinicians in how to diagnose and treat the diseases.
Diagnosis is difficult, Dr. Escolar said, when doctors do not often see the diseases and symptoms can mimic more common conditions. “The parents usually know there’s something else going on, and they’re very anxious.”
The public may view the conference at chp.edu/advancinghope. The hospital hopes to make the conference an annual event.
Joe Smydo: firstname.lastname@example.org or 412-263-1548.
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