Few people survive much past childhood with Wolcott-Rallison syndrome, a rare genetic condition characterized by insulin-dependent diabetes that typically appears shortly after birth, and organ failure that usually leads to early death.
But Angela Bushi, a 6-year-old from Jacksonville, Fla., who's living with Wolcott-Rallison is on the way to beating the once-insurmountable odds, thanks to a quadruple organ transplant she underwent on Dec. 29.
The little dark-haired girl, whose family emigrated from Albania seven years ago, underwent a liver, two-kidney and pancreas transplant at Holtz Children's Hospital in Miami. It was the first time doctors there had transplanted all these organs at once in a child, and the first time multiple transplant had been used to treat Wolcott-Rallison syndrome.
"Based on the syndrome, we knew that she would always be at increased risk for liver failure and renal failure, and her pancreas had already suffered some injury due to diabetes," said Dr. Olaf Bodamer, director of the pediatric genetics program at Holtz Children's Hospital. "By replacing the liver, it could reduce the risk to zero for her to have future episodes of liver failure. It functions normally and does not carry the genetic defect."
It's already been a lifetime of health struggles for the young girl. She developed diabetes when she was a year old, and a few years later, in September 2011, she showed the first signs of liver failure. Her 18-month-old sister had died from liver failure a few months before.
After an autopsy, the family learned she had also had Wolcott-Rallison syndrome.
While devastating for the family, the youngest daughter's death, said Valbona Bushi, the girls' mother, clued her in to what was wrong with Angela.
"She had the same symptoms as my other child who died, so we knew," Bushi said.
Doctors spent months trying to solve Angela's medical mystery, and finally found the answer when research uncovered Wolcott-Rallison syndrome. Testing later confirmed doctors' suspicions.
In the months since the surgery, Angela's doctors said she's progressing well.
"All the organs are functioning normally, and she has not needed any insulin," said Dr. Andreas Tzakis, one of Angela's transplant surgeons. "We are cautiously optimistic that she can grow to be an old person with her existing organs."
Doctors removed Angela's damaged liver, but left her other organs, transplanting the healthy organs on top.
"We remodeled the abdomen," Tzakis explained. "The other organs will stay, because if we had to remove them, it would have made the operation bigger.
The only remnants of surgery that Angela has right now are a yellow feeding tube and a distended belly that resulted from having two sets of organs.
"She's back to normal like before. She's a normal kid," said Bushi.
But not everything about her life is normal. She has to be careful when playing with other children and avoid playmates who could be sick, since her immune system is compromised.
That also means she can't go to school, even though she'd recently started kindergarten. The news didn't make Angela very happy. "Yes," she exclaimed when one of her doctors asked if she misses going to school.
Doctors plan to monitor Angela's organ function carefully, and while they are optimistic so far, they caution that there are no guarantees.
"We are taking it one day, one week and one month at a time," said Tzakis, also chief of the liver/GI transplant program at the University of Miami's Miller School of Medicine. "This is uncharted territory, so we don't really know exactly how to react. We have prepared for as much as we can."
After years of struggling with her children's serious medical conditions, Bushi is grateful that her oldest daughter has a good chance of surviving the illness that killed her youngest.
"The doctors are amazing. It's an amazing transplant. You can tell when you see her now."