Kennedy Stevenson – AdoHcy Deficiency

Kennedy Patient Story

Every mother knows that her own child is special – one in a billion, and different from others in every way. But what Donya McCoy didn't know was that her daughter, Kennedy Stevenson, really was one in a billion. Kennedy was diagnosed at the age of three with a metabolic disease so rare that only eight other people in the world have ever been known to have it.

S-adenosylhomocysteine hydrolase (AdoHcy) deficiency is a hereditary enzyme disorder that affects brain, muscle and liver development. Specifically, the disease results from mutations of the gene that encodes AdoHcy hydrolase.

When Kennedy was 8 months old she had a seizure, which prompted Donya, who is from Elizabethtown, Pa., to take her daughter to the nearby Clinic for Special Children in Lancaster. The Clinic is dedicated to diagnosing and treating children with genetic disorders, and it's where they met Kevin Strauss, MD, the medical director of the Clinic and a leader in the diagnosis and treatment of rare diseases.

Dr. Strauss and his colleagues discovered that Kennedy was not growing typically. Her presentation included microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. The late S. Harvey Mudd, MD, a world-renowned metabolic specialist, was part of the team that pinpointed Kennedy's condition as a disorder involving her AdoHcy hydrolase enzyme.

Solving the mystery

Donya and Kennedy eventually made their way to Pittsburgh, where they met with Kyle Soltys, MD, a transplant surgeon at the Hillman Center for Pediatric Transplantation at Children's Hospital of Pittsburgh of UPMC.

Kennedy began following a restricted diet, but even in the early stages of her medical journey, she demonstrated that she was a brave patient who was willing to do what needed to be done. "We never imagined something like this would touch our lives," says Donya. "But Kennedy has done so well—she took it all in stride."

Dr. Soltys explained that the enzyme deficiency made it impossible for Kennedy to process protein in an efficient way. This caused a build-up of toxic substances in her body that contributed to degenerative neurological effects. A liver transplant could correct the problem, but, because of the way the organ donor list functions, Kennedy would not have a very good chance at securing a deceased donor liver. The organ allocation system is controlled by an impartial algorithm that doesn't take into account extremely rare diseases like AdoHcy deficiency. According to the computer, Kennedy's liver was healthy. Living-donor liver transplant was looking like the best possible solution.

A procedure with promise

Living-donor liver transplant is a major operation, performed by the most experienced transplant teams. Children's Hospital of Pittsburgh of UPMC has performed more pediatric liver transplants than any other center in the United States, and its survival rates are significantly higher than the national average. Since 1997, Children's has performed more than 125 living-donor liver transplants. Also, Children's transplant team has performed more liver transplants for patients with metabolic disease than any other hospital, including adult facilities.

In contrast to traditional deceased-donor liver transplants, a living-donor transplant enables a healthy donor to give part of his or her liver to the person who needs it. The donor's liver then regenerates, and the donated portion grows into its new home in the recipient's body. The procedure is complex and demanding, but outcomes are favorable. The challenge lies in finding a suitable donor.

Family…

The bleak assessment didn't stop Donya and Kennedy from maintaining a positive attitude. They're fortunate to have an extensive support system in the form of their large blended family. Donya's husband, Josh, has a daughter who is just a year older than Kennedy, and Mia's and Kennedy's birthdays are only a day apart (making for some great sister-fun parties). Nick Stevenson, Kennedy's father and Donya's former husband, is also close by, and all of Kennedy's grandparents (as well as Josh's parents) are on board with providing the love and support that Kennedy needed to get through the overwhelming diagnosis, procedure, and recovery process.

The love and support of family are absolutely necessary at a time like this, but a complicating factor in the situation was that any living liver donor would have to be unrelated to Kennedy because of the hereditary nature of the disease. Donya knew that if she were to find an unrelated liver donor, she would have to reach out to her friends. What better place to find a large group of friends than Facebook?

…and friends

Facebook is an excellent way to stay connected with far-flung pals, and it's a convenient platform for exchanging recipes, showing off your home improvement projects, and sharing cat videos. It's not every day, however, that somebody turns to Facebook for help with a life-or-death situation.

 "Okay Friends...here it is...the request of a lifetime," Donya posted to her 800 or so friends in July 2014. "Is there anyone out there who has O+ blood and would be willing to donate 25% of their liver to save Kennedy's life? Trust me, I know it's a lot to ask, I can't even believe I'm posting this, but as a mother, I have to exhaust every option possible."

"This was the biggest network of people I knew, and I had to do it. When I clicked that button, I was nervous and overwhelmed," says Donya. "This isn't something you'd ever think would happen."

But soon after her post went up, she was surprised by a message from Mike Thompson, a former classmate from Bethlehem Catholic. When Mike's daughter was in the NICU, Donya had reached out to him—and now he wanted to help Kennedy.

"I'm a firefighter, so I help people every day—but to help somebody like this is just a once-in-a-lifetime opportunity," says Mike. "It's just the right thing to do, and I'm glad Donya let me help."

The spirit of giving

After the requisite testing, everybody headed west to Pittsburgh for the transplant surgery. It took ten hours, but Donya says that Kennedy was ready, and so was her family. She, along with her stepdaughter and husband and his parents, spent the day with her parents, her former husband and his parents, and Mike's family (including his children, Makayla and Landon, who are very close in age to Kennedy and Mia). During the procedure, everybody spent time getting to know one another even better than before. Today, Donya says, they're just one big family. Kennedy calls her liver donor "Uncle Mike," and he calls her "KJ." And, of course, they get all the kids together regularly.

Mike says he wasn't nervous—everybody else was more nervous than he was. "I knew I was in good hands the entire time—I've heard so many good things about UPMC," he says. "My only real worry was that the transplant would get rejected—that was my only fear." His family supported him in his decision, and he knew in his heart that he was doing what needed to be done. When asked if he felt like this were something especially unusual for a person to do, he mentioned that he was disappointed he wouldn't be allowed to do anything like it again. "I'm not even allowed to donate a kidney, so I guess I can just donate blood," he says. "If something like this ever happened in my own family, I'd just hope for somebody to step up. My wish is that anybody who ever wants to do it will just give it a try. If you're lucky, you'll find somebody you can help."

Today, Kennedy and Mike are doing well. "Physically, she's great," says Donya. "She's eating protein and developing so well—she seems to be catching up, and the doctors are amazed at her brain development. She emulates her big sister, and they are just so close. She is such a happy, playful, loving child—you'd never know she's gone through anything serious."

Donya feels lucky. Her blended family, her selfless friend, and, most of all, her resilient daughter have shown her how love can overcome adversity. "Kennedy's been through more in her four years than most of us in our whole lives—she is super-brave, but not hardened at all," says Donya. "She's just so sweet and happy. She is my hero."

"Kennedy's prognosis is good," says Dr. Soltys. "Living-donor liver transplant offers hope to people and an improved chance of survival. People who have to wait for a deceased donor liver may become too ill for the surgery. Living-donor transplant increases the number of organs available. It's a real solution to a real problem."