Unique quadruple transplant saves child with rare disease

Angela Bushi’s tummy protrudes just a bit, offering the only hint that her belly holds two pancreases, a donated liver and four kidneys.

Angela is 6, wears sequined sneakers and a yellow feeding tube into her nose. She has an extremely rare terminal disease called Wolcott-Rallison Syndrome, which University of Miami/Jackson Memorial Hospital doctors may have given her an unprecedented shot at beating.

Not that the Jacksonville child gives them any credit for that. “Stupid boy doctor!” she proclaims, preferring the female physicians.

One of those boys, Dr. Andreas Tzakis, chief of the liver/GI transplant program at UM’s Miller School of Medicine and Jackson Memorial Hospital, will present Angela’s case to the public for the first time Thursday. The veteran of thousands of transplants is jubilant over the December surgery, because it was the first time his team replaced a liver, pancreas and both kidneys at once.

It was also the first time the hospital came across this particular disease, which stumped doctors at two other hospitals and killed Angela’s baby sister.

“It’s a very new remodeling of the abdomen not done before,” Tzakis said. “That’s all very special, and she knows it. She’s telling us that all the time. She’s very feisty.”

Wolcott-Rallison Syndrome is a genetic disease that has only been documented in some 60 cases worldwide. The children all had diabetes as infants, usually suffered from intellectual and growth delays and ultimately succumbed to organ failure. Most of the patients died as kids, and only one lived to age 30.

The Bushi family moved to Jacksonville seven years ago from Albania after winning a visa lottery. Valbona Bushi was pregnant with Angela, who was soon diagnosed with diabetes and had long spells where she hardly grew.

“I told the doctors, ‘She’s not eating. Something is wrong with her,’’’ Bushi said. “They would say, ‘Nothing is wrong. Everything looks OK.’’’

Angela eventually improved, but then her baby sister Alicia was born and was also diagnosed with diabetes as an infant. Both girls were doing fine on insulin last year when Alicia, then 18 months old, suddenly got a serious flu that led to liver failure. She survived just 10 days.

Five months later, Angela also got a virus, and her liver appeared swollen. Bushi had one of those mom hunches: Her daughter’s liver was failing.

“The people at the hospital in Jacksonville would ask me: Are you a doctor?” she said. “I told them: ‘I know. I had a bad experience with this.’ I kept telling God: ‘OK, you took one for you, now leave one for me.’”

Angela was transferred to Holtz Children’s Hospital at the Jackson Memorial Hospital complex, where doctors said she was too sick for a transplant. With a failing liver and no diagnosis, she was doomed to die.

Dr. Olaf Bodamer, UM’s director of clinical genetics, did the genetic detective work and figured out the culprit: a disease that causes proteins to malfunction and keeps the body from fighting viruses.

“Sometimes we feel like Sherlock Holmes,” Bodamer said. “I’m optimistic that she’ll have a good future, because she’s a bright young girl.”

After two stints in the hospital and more than a month on a ventilator, in December doctors gave her a new liver, pancreas and two kidneys donated from a 5-month old in Georgia. Only Angela’s diseased liver was removed. Her own two kidneys and pancreas were left in place. Removing them “was another surgery she didn’t need,” Tzakis said.

“In reality what we do reminds me of the gymnastics you see on the Olympics,” he added. “Are they nervous up there? I don’t think so. They’ve done this so many times, but they have to concentrate. They need to perform perfectly and land perfectly.”

University of Utah doctor Marvin Rallison first discovered the disease in a family he treated in the 1960s. Now in his 80s and wintering in Arizona, Rallison said he had only heard of one case in the United States and just 17 families affected around the world, including a few in the Middle East. He suspects Angela will some day be afflicted by growth and intellectual deficiencies most of the Wolcott-Rallison Syndrome patients suffer from, but in her case the disease won’t be fatal.

Nobody has ever attempted a multiple transplant to treat the disease before, he said.

“Amazing,” Rallison said. “There’s good reason for hope. If they removed and replaced the affected organs, it would give the child the opportunity for a good life.”

Discharged from the hospital and recuperating at the Ronald McDonald House, Angela is responding well to her new organs and no longer has diabetes. Her father is hoping to find a job in South Florida as a plumber, so the family can relocate closer to the doctors who saved her and will need to monitor her.

“What they did here was a miracle,” Bushi said. “Thanks, God. I say it a hundred times: thanks, God.”