For as long as she can remember, Gwen Lorimier, now 8, wanted nothing more intensely than the ability to eat. To chomp down on a steaming hotdog. To lick vanilla ice cream as it melted down a cone. To snack on cereal while watching cartoons with her big sister, Abby. But eating was merely a fantasy for Gwen. Since the age of 1, her body had mysteriously refused to digest food. To stay alive, Gwen received all her calories and nutrition through an IV. Nothing could pass through her mouth without causing excruciating pain—not even water.
As a newborn, Gwen just wouldn't eat, recall her moms, Kim and Sue. "She'd scream in pain every time we tried to feed her and she'd go seven or eight hours without food, content as long as she didn't have to eat," says Kim. At 8 months, Gwen was diagnosed with intussusception, a blockage in the digestive tract that prevents food and liquid from passing through normally. She had surgery to fix the obstruction, and her moms hoped she'd rapidly recover.
But Gwen's health continued to deteriorate. During normal digestion, a series of organized muscle contractions, called peristalsis, moves food from your stomach along your intestinal tract. But when Gwen ate, her digestive tract inexplicably froze up, causing major backups and terrible pain. It didn't make sense; the surgery had fixed the blockage, so why couldn't she eat?
Gwen's doctors were baffled, and her moms dove into a frantic quest for knowledge. They read as much about intestinal problems as they could find, and met with experts across the country. Finally, when Gwen was 3-and-a-half, she was diagnosed with mitochondrial disease. Mitochondria are known as the powerhouses of our cells, turning sugar and oxygen into energy. But in mitochondrial disease, the mitochondria don't function correctly, leading to muscle weakness and organ dysfunction. Eventually, it can lead to organ failure.
Doctors hypothesized that the mitochondrial disease was causing Gwen's intestinal failure. The cells in the organs of her digestive system were being impacted by the disease, and couldn't do their job properly. But it wasn't clear how to fix it. A multivisceral transplant, where sick intestinal organs are replaced by healthy ones, was discussed as a last resort. "We knew the possibility of transplant loomed out there in her future somewhere, but we hoped it was far away," says Sue.
But, when Gwen was 7 years old, it became clear that her options were being whittled down. Over the course of a year, she had life-threatening blood infections—called sepsis—more than a dozen times. Each time Gwen fought off the infection, it was harder for her to bounce back. She spent more time in the hospital than at home. Her parents, both music teachers, would bring in her violin for the rare moments when she had enough energy and her pain was under control. "Her energy was like that of a puppy—very short-lived and then it'd disappear, and she'd be empty," says Kim.
After a terrifying battle with sepsis in which they almost lost Gwen, her family and medical team decided it was time to bring her to Children's to discuss the possibility of transplant. They met with Heung Bae Kim, MD, a surgeon and director of Children's Pediatric Transplant Center, who explained that a multivisceral transplant—which would give her a new stomach, liver, pancreas, spleen and small intestine—was an option for Gwen, but one that came with significant risks.
Developed around 20 years ago, multivisceral transplant is considered a fairly new procedure, and many hospitals don't perform it because of its complexity. In 2004, under the guidance of Kim, Children's became the first and only hospital in New England to offer the surgery.
During a series of difficult conversations, the transplant team and Gwen's family weighed the pros and cons of a taxing surgery on her fragile body. "We like to say that transplant takes away a set of problems, but introduces a whole new set," says Courtney Fratto, RN, MSN, CPNP, coordinator of Intestine and Multivisceral Transplant. "There's a lifetime of immunosuppressant drugs, the risk of rejection and of cancer."
The family listened to the risks carefully. But it was the words of hope from Dr. Kim that convinced Gwen's moms they should give transplant a shot. "Dr. Kim said, 'I wouldn't do this if I didn't have a vision of Gwen in high school,'" recalls Kim. "That year, not one person in our life had a vision of her like that. He really believed the possibility existed."
Gwen, then 7, was placed on a waiting list for donor organs. Although it can be tough for children to fully comprehend the gravity of medical situations, Gwen grasped what was going to happen. "She understood her body and the problem, and she understood the plan," says Dr. Kim. Gwen was clear about her goals: She wanted to do the transplant so she could eventually eat snacks at school with her friends. "Her goal encompassed a bunch of things, because she had never been able to go to school," says Kim. "For her, it was all about getting to do things other kids did."
On August 4, 2009, Kim and Sue went on a date—an extremely rare occurrence—for Sue's birthday. Leaving their kids with family and a nurse, they travelled to Newport to take an hour-long sunset sailboat cruise. As fate would have it, as soon as they got on the water, they heard the unmistakable beep of Kim's cell phone. It was the call they had been waiting four months for—potential organs were ready for Gwen's transplant. "We tried to race back to shore on the sailboat, but the wind died, so we had to flag down a powerboat," says Kim. They sped to the hospital while a home nurse gathered Gwen and brought her to Children's. It was a false alarm—the organs weren't appropriate for Gwen. But less than 48 hours later, the family received a second call, and this time, it was the real deal.
After 11 hours of surgery, during which the intestinal organs were transplanted together, like a cluster of grapes on a stem, the procedure was complete. The surgery was an enormous success. As her body accepted the organs as her own, her digestive system began to work like normal. Finally, Gwen was able to eat.
Over the next days and months, Gwen embarked on a life of firsts. First Thanksgiving dinner with her family. First overnight summer camp. First time swimming in a pool. First time flying down the street on a two-wheeled bike. "I can do a lot of stuff that I couldn't before, and at first I thought it was scary," says Gwen. "But now I'm not afraid."
She's still discovering which foods she loves—and which repel her. "I can't decide what's my favorite food—potatoes, ice cream or French fries," she says. She was curious to try chocolate, after hearing it praised her entire life. But when she finally ate it, she was flummoxed. "It's gross!" she says. "But I like mulled apple cider and marshmallows and candy, so I'm still human."
Her road to recovery hasn't been without significant bumps. In January 2010, four months after surgery, Gwen developed post-transplant lymphoproliferative disorder, a form of cancer that can be caused by the immunosuppressant drugs needed to keep a patient's body from rejecting the transplanted organs. After going through months of chemotherapy, Gwen is well and it seems that the treatments worked.
A year has passed since her transplant and Gwen is embracing her newfound independence. After being tutored at home for the majority of her life, she's now in third grade, learning alongside her peers. "I'm actually a little above grade level," she boasts, grinning.
Her moms are finally ready to begin the process of relaxing their guard—something that doesn't come naturally after such a long journey of illness and recovery. "It's been amazing to watch Gwen transform into this beautiful, silly, funny girl," says Kim. "We just decided this month, in a great fit of optimism, that we're going to sell our handicap-accessible van and wheelchair."
On a recent afternoon, Gwen bounces around her house with youthful glee, serenading the family with a Hannah Montana song and showing off her dance moves. Although she enjoys the violin, her future goals are, well, loftier. "I'm really a glamour girl—I want to be an actress and singer," she says. Now that she's at home, she and her big sister Abby are reconnecting and becoming closer, after growing up in virtually separate worlds.
As someone who spent so much of her life unable to fully participate, Gwen is wasting no time grabbing it by the horns. "I'm getting to do the things I wanted to do my whole life," she says. "I'm not going to slow down now."