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Quinn’s story: Meet a five year old boy who can’t digest food

Rare Disease Week: Preschooler is among the oldest known survivors of prune belly syndrome and Berdon Syndrome

Quinn Avis is much like many five-year-old boys. He loves Cars and Kung Fu Panda. He wants his 8-year-old brother, Desmond, to tackle him like the football players he sees on TV. He enjoys going to the park, and has an infectious ability to make others smile.

But Quinn is also a living miracle. According to his family, he is possibly the oldest known survivor of two extremely rare disorders: Prune belly syndrome and Berdon Syndrome, otherwise known as Megacystis Microcolon Intestinal Hypoperistalsis (MMIHS).

Prune belly syndrome is a rare condition involving several birth defects, including underdeveloped abdominal muscles and problems eliminating from the urinary tract. MMIHS is a rare genetic disorder affecting intestinal motility; there are only a few hundred confirmed cases globally.

But the “tenacious” preschooler takes all of life in stride. “He will probably be a lawyer or an entertainer,” says his mother Kathy MacKercher. “He likes to make people laugh — and running around with his big, green bag of bile, people are going to look.”

Quinn1Life without ‘real’ food

Quinn’s conditions have led to many complications. At just nine days old, he had extensive surgery for intestinal malrotation. Quinn’s MMIHS means that his stomach and intestines are unable to propel food forward and be absorbed. He has tubes in his stomach and small intestine to allow for small amounts of nutrients to be given to him.

Quinn can take nibbles of some food but has never had a full bowl of ice cream or slice of pizza. Because Quinn cannot be fed via his stomach and intestines, he is dependent on IV nutrition (TPN). This IV nutrition is life-saving, but can lead to complications including blood infections and liver failure. While Quinn’s liver is currently working well, this may not always be the case and he might eventually need to have his liver, small bowel and other organs transplanted.

MacKercher says they are hoping to avoid these transplants. Although Quinn is on the list for a donor, doctors are anticipating a 26-hour surgery, potentially having to remove the bowel, stomach, liver and pancreas. He could also require removal of his bladder which is abnormal as part of the Prune Belly Syndrome. “We are trying to maintain his health steadily,” she says. “If anything goes wrong, he’s at the point of a transplant.”

Quinn’s care team at C.S. Mott Children’s Hospital has been helping him stay healthy since before he was born, led foremost by pediatric surgeon Dr. Daniel Teitelbaum and the Children’s Intestinal Rehabilitation Program. “Their team has been remarkably incredible,” MacKercher says. “The whole team.”

MacKercher credits the communication between departments for how well Quinn is doing today. “I can’t say enough how well the teams have worked together,” she explains. “Without that, I don’t think that Quinn would be around today. I so appreciate their openness. Like Dr. Roland Blackwood from infectious disease, who sat down and talked to us for two hours, asking us questions and helping us make a plan. And Dr. Andrew Campbell who helps with iron infusions. And Dr. Vesna Ivancic from urology who comes to the clinic to bring top services to Quinn. They sit and talk and share their personal lives and stories to help us make these decisions.”

Dr. Meghan Arnold, a pediatric surgeon at Mott, has helped care for Quinn since he was a newborn. She says it takes a “village” of different specialties at Mott coming together to explore new ways to treat Quinn in the most effective way.

“Children with one of these conditions face great struggles in managing their health every day,” Arnold says. “Quinn’s case is an exceptionally rare and challenging situation because he has both of these conditions and is completely dependent on TPN.”

A chance at life

Things are going fairly well for Quinn, all things considered. He has some challenges, like daily bladder and rectal washouts and he will need more surgeries and daily care.

But Quinn is doing things he was never supposed to do. He turned five years old last year, although he was not supposed to see a single birthday. He was walking by 14 months, something doctors said he might never be able to do. He can climb a climbing wall, with no abdominal muscles to help. He is set to attend kindergarten in the fall.

“We continue to try new treatments catered to Quinn to help give him the best possible outcome,” Dr. Arnold says. “He has already beaten incredible odds in his short life and every day with him is truly a victory for his family. We are amazed by how well he’s doing and are happy to see he’s not spending nearly as much time in the hospital as you would expect for a child facing such big health obstacles.”

Although MacKercher says the family is taking it all one day at a time, with expanding research and continual care, she sees a future with no limits for Quinn. “Many doctors told us initially that life expectancy for Quinn would not be over a year,” she says. “Dr. Teitelbaum is the only one who didn’t. We were terrified at first, and we had no idea what to do. We were trained on how to do TPN, and the doctors gave us the belief that we could.”

MacKercher says that long-term goals for Quinn include raising awareness for gastrointestinal and urinary conditions — but for now, short-term goals are more pressing. “I want him to like school,” she says. “I want him to enjoy it, to make friends and have fun. Right now, we live in the moment.”

Milestones for Quinn

  • In utero: Doctors note on ultrasound that urine is not coming out of Quinn’s bladder. Doctors make four attempts to put shunts in the bladder.
  • 9 days old: Quinn undergoes extensive eight-hour surgery for intestinal malrotation.
  • 14 months: Quinn walks for the first time. Doctors weren’t sure he ever would.
  • 2 years old: Quinn attends his first Prune Belly Syndrome Network conference, where he meets and bonds with other kids with similar conditions.
  • 3 years old: Quinn has his gallbladder removed. His abdomen is open for three weeks, spending every other day in the OR.
  • 5 years old: A milestone birthday, says MacKercher, since doctors said he may not make it to his first.

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mott blog - logo thumbUniversity of Michigan C.S. Mott Children’s Hospital is consistently ranked one of the best hospitals in the country. It was nationally ranked in all ten pediatric specialties in U.S. News Media Group’s “America’s Best Children’s Hospitals,” and among the 10 best children’s hospitals in the nation by Parents Magazine. In December 2011, the hospital opened our new 12-story, state-of-the-art facility offering cutting-edge specialty services for newborns, children and women.