Lack of specialist at UK affects kids with rare disorders

Lisa Esenbock and her son Logan, 2, are adjusting to the retirement of UK's Dr. Charlton Mabry, the "Michael Jordan of newborn metabolic conditions."
Lisa Esenbock and her son Logan, 2, are adjusting to the retirement of UK's Dr. Charlton Mabry, the "Michael Jordan of newborn metabolic conditions." ©2011

The day before Thanksgiving, 2-year-old Logan Esenbock went into a trance-like state, then screamed for an hour.

Logan suffers from PKU, a rare metabolic disorder that makes it hard to break down protein. The condition was caught 10 days after his birth through a state newborn screening program and he was formally diagnosed at the University of Kentucky.

Until this summer, he'd been under the care of Dr. Charlton Mabry at UK's Mabry Metabolic Disease Unit. But Mabry, 81, retired this summer and hasn't been replaced. Instead, Logan's appointments — along with some 50 other patients being treated by Mabry — were canceled, and his mother was told another doctor wouldn't be available until January.

So on Nov. 23, Lisa Esenbock had nowhere to turn. Her son quickly stabilized that day, but Esenbock said she was still scared.

"You kind of just feel like you are out there on your own with this," Esenbock said. "It can get scary and you're not really sure what to do or who to turn to. With UK Hospital you would expect to have people available."

Mabry calls the situation a scandal.

"They didn't replace me and now they're in a mess," he said. "We're going to start having children who cannot live full lives or will die because they're not being properly treated."

UK officials say they are desperately trying to find a replacement for Mabry, but there just aren't that many specialists in metabolic genetics to recruit. In January, a doctor from the University of Louisville's metabolic diagnostic center will step in to help, seeing patients like Logan two days a month.

However, the issue has brought up the larger question of whether a state as poor as Kentucky can afford two diagnostic centers for pediatric metabolic disorders.

Dr. Carmel Wallace, UK pediatrics' interim department chair, noted that states such as Indiana, Tennessee and Michigan have only one specialized diagnostic center, while other hospitals provide a maintenance role for the patients. In Kentucky, roughly 400 children are diagnosed with these kinds of genetic metabolic disorders every year.

"We are a state of 4.3 million people and I'm not sure we have the resources to have two free-standing diagnostic centers," Wallace said. "I understand this is controversial, and I understand people's frustrations and anxieties. Right now, I want to make sure these children get the best care they can."

Meanwhile, U of L officials contend they are fully capable of serving the entire state. The U of L pediatrics department has five genetic counselors and four geneticists, one of whom, Kara Goodin, is a biochemical geneticist who will be doing the clinics at UK.

"These are very rare disorders, but when you add them all up, it amounts to a real number of patients," said Jerry Rabalais, chairman of U of L's pediatrics department. "Could this state have two centers? Right now they don't, and we're happy to help, but I think we can service the whole state from right here."

An awkward situation

Mabry started as a pediatrician at UK in 1961, one of the original faculty at the hospital. He became a national expert in the area of pediatric metabolic disorders and was instrumental in getting the 2005 General Assembly to expand newborn screening so that all babies were tested for 29 different disorders that can cause mental retardation, blindness, deafness, and even sudden infant death syndrome.

Today, a total of 44 disorders are tested. Many of them can be treated with medicine and special diets, but early detection is key.

Babies born at any hospital in Kentucky get their heel stuck for a drop of blood that's sent to the state medical lab in Frankfort. Before Mabry's retirement, a positive test meant parents were told to take their children immediately to either UK or U of L to make sure the test is correct, and if so, to begin treatment.

The children with disorders then continue routine visits every few months for blood-level checkups.

Mabry said parents have to be taught about continuous care, how to recognize when their children's metabolic levels are off, and what to do. Care can continue into adulthood.

"These children need to be seen by a doctor, and right now that's not happening at UK," Mabry said. "It's a very awkward situation right now."

UK did have a plan to replace Mabry with Dr. Carolyn Bay, who was already overseeing pediatric genetics at UK. She was supposed to oversee the pediatric metabolic division at the same time, but in August, she stepped down from clinical work to finish several research projects, Wallace said.

When those are finished, she will be leaving UK, Wallace said.

Mabry, however, said he believes UK is dragging its feet in finding a permanent replacement because they don't really want a diagnostic center.

It requires a highly-specialized, highly-paid doctor, and plenty of blood tests, but the unit itself doesn't produce that much revenue, because most of the treatment involves medicine and special diets, rather than more lucrative medical procedures.

"It's very clear that the unit doesn't make enough money," Mabry said.

Temporary solutions

Kentucky State Health Commissioner Steve Davis, like Wallace, was a student of Mabry's when Davis was in medical school at UK.

"Dr. Mabry is world-renowned, he is the Michael Jordan of newborn metabolic conditions," Davis said. "It has been hard to fill his shoes."

Davis said that when Mabry retired, he had a meeting with officials from UK and U of L to figure out a temporary solution.

Right now, the state lab sends any positive newborn results to both diagnostic centers. Mild cases can still be sent to UK, while more severe diagnoses go to U of L. So far, 20 babies and children that otherwise would have gone to UK have been sent to U of L for more extensive consultation, Wallace said.

Goodin, the U of L specialist, will start seeing both new babies and former patients at twice-a-month clinics at UK starting Jan. 3.

"We do have a system to make sure babies are taken care of," Davis said.

Even if U of L had the only diagnostic center in the state, UK would still need a specialist on staff for maintenance care of the children, Wallace said.

Davis said in an ideal world, there would be two diagnostic centers.

"But I would be less than honest if I didn't hear two chairs saying we should concentrate resources, rather than trying to divide resources," he said.

Davis says Mabry is right that pediatric metabolic divisions are crucial but don't make money.

"We give state support to both schools in an effort to offset the negative costs," he said.

Still, all the people involved are committed to helping all children who are diagnosed with these issues, Davis said.

"In a perfect world, we'd have robust centers at both schools, but I still think we can build a robust center for the whole state," he said.