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8 Incredible Medical Stories

Local patients and doctors share eight remarkable tales of real-life medical drama right here in Pittsburgh.



(page 3 of 4)

Crystal Martin and Dr. George Mazariegos, director of pediatric transplantation at Children’s Hospital of Pittsburgh of UPMC.

 

Imagine a lifelong diet so restrictive that you can’t eat meat or dairy. Even vegetables must be rationed. The stakes are high, since a dietary misstep can lead to brain damage or death. That’s been the reality for people with Maple Syrup Urine Disease (MSUD), an inherited genetic disorder that prevents the body from processing certain amino acids found in proteins.

MSUD is rare — affecting less than one in 200,000 children — and dangerous. Even the severe diet can’t prevent a minor illness from potentially triggering a fatal metabolic crisis. But a cure now exists, in the form of liver transplants performed at Children’s Hospital of Pittsburgh of UPMC. A new liver gives MSUD patients the enzymes necessary to process proteins.

About a decade ago, the transplant center at Children’s — under the direction of Dr. George Mazariegos, director of pediatric transplantation — developed the world’s first comprehensive, multidisciplinary medical protocol for performing these transplants for MSUD patients. “This program really constitutes a medical breakthrough,” Dr. Mazariegos says.

Late last year, 15-year-old Crystal Martin of Lancaster County became the 50th MSUD patient whose life was improved by a liver transplant at Children’s. Before the operation, Crystal’s disorder had a significant impact on her whole family, says her mother, Lorraine. “Starting with the food restrictions — she could hardly eat anything. And we’d always have to worry about her amino-acid levels. If they went up, she wouldn’t feel well. She got sick easily and missed so much school — it affected her ability to think clearly, too. We [also] had a cloud hanging over us of possible brain damage.” Crystal’s family heard about the transplant option at a symposium Children’s hosted at the Clinic For Special Children, a genetic-disorders treatment center near their home.

“I was privileged to collaborate with a remarkable team of people in the development of this program,” says Dr. Mazariegos. The group includes geneticists, gastroenterologists, hepatologists and metabolic specialists from Children’s and the Clinic For Special Children. “Experts from different institutions working together isn’t that common,” Dr. Mazariegos explains, “but these colleagues put individual and institutional goals behind the shared goal of what would be best for the patients.”

Transplant surgery for MSUD patients differs from conventional transplant procedures in several ways, including routine surgical issues. “There’s the potential for serious metabolic and neurological crises during and after surgery if we’re not very careful,” explains Dr. Mazariegos, “so we developed contingency plans for everything.”

On Nov. 27, the Martins were notified via phone that a donor liver was available. Crystal underwent a successful transplant at Children’s the next day. “She can’t stop telling everyone how happy she is,” says Lorraine. “It’s a miracle how this changed things. She says her mind is totally clear, and she’s really eating for the first time — she never knew what meat, eggs or pizza tasted like! We’re so appreciative of that awesome hospital and so grateful to the donor’s family. We can’t thank them enough.”

Performing 50 successful MSUD transplants is precisely what Dr. Mazariegos had planned. “We feel a high degree of responsibility with this program,” he says. “Any misstep could impact subsequent patients, as well as the transplant field as a whole. It’s exciting to see these transplants lead to dramatic changes for MSUD patients, their families and communities.”

From left: Susan Killmeyer; Dr. David Bartlett; and Dr. Herbert Zeh, both of the division of surgical oncology at UPMC CancerCenter.

 

After experiencing serious food poisoning for several days, Susan Killmeyer knew she needed to visit UPMC Presbyterian Shadyside Hospital, where she works as a clinical director. There in the ER, a CT scan of her abdomen revealed a danger much greater than a routine case of food poisoning: a cancerous tumor on her inferior vena cava, the vein that carries blood from the lower half of the body into the heart.

The food poisoning may have saved her life, says Dr. David Bartlett, a cancer surgery specialist at UPMC CancerCenter. “Her cancer is among the rarest — [it affects] about five in a million,” he says, “and it takes so long to develop symptoms that by the time it does, it’s usually beyond what we could treat.”

Dr. Bartlett, along with a team that included Dr. Herbert Zeh, a cancer surgeon at UPMC CancerCenter, determined that Susan would have to undergo a long, complex operation to remove the tumor. “It wasn’t easy news to hear,” she says, “but I’m a take-charge person — I don’t feel sorry for myself. So from my hospital bed I compiled a list of physicians for my ‘team’ — and Dr. Bartlett was on it. I knew he was a good surgeon.”

“Her tumor was in a tricky area and involved her liver, so to reach the tumor, we had to take out the vena cava,” Dr. Bartlett says. This created complications, including problems with blood pressure and clotting as well as serious bleeding — all of which put Susan’s brain at risk. Throughout the nine-hour operation, continuous efforts to keep her alive were made — including massive transfusions of blood products, and both medication and intermittent clamping of the heart’s main blood vessel to maintain pressure to the brain. “It was a Herculean effort by a large team,” says Dr. Bartlett.

The surgery was a success, but Susan was back in the operating room several hours later because of bleeding. More surgeries followed, including one where she was so unstable that she couldn’t be moved from the ICU. “So we did the operation there,” Dr. Bartlett says. Multiple surgeries contributed to Susan’s kidneys failing, while the length of her sedation led, temporarily, to total body paralysis. “Her case was unique,” says Dr. Bartlett. “She seemed to have every problem you could have.”

Susan was in the hospital for three months. “The day I left, I could barely sit on the side of the bed,” she recalls. “I had to learn to feed myself and to walk again.” Her recovery was arduous, but Susan was able to return home (and get back to work).

“The psychological aspect of a recovery like Susan’s is huge,” Dr. Bartlett, says, “and she was very strong. Even when paralyzed — her kidneys failing — she maintained good spirits.”

Thinking about her adult twin daughters gave her strength, Susan says. “My husband died 17 years ago, and there was no way in hell I was leaving my kids without a parent.” Susan’s short-term goal was to see her girls get married. “One daughter’s wedding was last October and I was able to walk her down the aisle,” she says. “My other daughter is getting married this month, so I’ll be doing it again.”

“It’s rewarding to take a challenging case like Susan’s and give her hope for the future,” says Dr. Bartlett. “What allows us to do it are all the people and resources at this hospital — from the anesthesiology department to the ICU nurses and many others. The whole system supports a case like this.”

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