Apr 24, 2023, 9:00:19 PM CDT
Ava Continues to Defy the Odds Thanks to Expert Care for Rare Condition
Ava is a lot like other 9-year-olds: She loves animals, video games, and riding scooters around the neighborhood with friends. She plays on a volleyball team coached by her dad, Brandon, and plans to be an artist when she grows up.
It’s a pretty good life for a family that was once told their infant daughter might not live to see her second birthday.
Ava was born with a genetic disorder so rare that there are only a few hundred documented cases in the world. It’s called megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), and it means that the smooth muscles lining her intestine and bladder don’t contract the way they need to in order to pass food through her digestive tract or empty her bladder. This lifelong condition has no cure, and most doctors will never meet a single person who has it.
Initial confusion leads to devastating diagnosis
The first few months of Ava’s life were a whirlwind. She was born about 5 weeks early via emergency Cesarean birth after the placenta detached from her mom, Sarah. By her second day, baby Ava still hadn’t had a bowel movement and began vomiting bile – clear signs something was amiss.
Imaging tests showed a blockage in her intestines. Even after surgeons at a hospital near their home in Collin County completed an intestinal surgery and placed a central line so Ava could receive intravenous nutrition (also called TPN), her condition did not improve. She remained hospitalized in the NICU and underwent a litany of invasive tests and procedures as doctors tried to figure out what was going on.
During her third month in the NICU, their GI doctor diagnosed Ava with MMIHS and solemnly informed Sarah and Brandon that the life expectancy of an infant diagnosed with this condition was about two years.
“It was almost like he threw up his hands. He looked at us and asked what we wanted to do,” Sarah recalled. “We told him ‘We need you guys to try something!’ We couldn’t just sit there and wait while our baby deteriorated.”
It was their NICU doctor who did some research and connected the family to Nandini Channabasappa, M.D., a pediatric gastroenterologist at Children’s Health and associate professor of Pediatrics at UT Southwestern Medical Center.
“Dr. Channa was the first to give us any hope for Ava’s life,” Sarah said. “To her, Ava’s condition wasn’t just a rare, dreadful diagnosis that you read about in medical books. She has actually treated patients with this condition. She knew the odds. But she also knew what was possible.”
Dr. Channabasappa’s friendly demeanor and gentle confidence allowed Sarah and Brandon to catch their breath after Ava's first few tumultuous months. During the month they spent on the gastrointestinal floor at Children’s Health Dallas, Ava’s new care team stabilized her condition and got her medications and IV nutrition dialed in. The GI team also trained Sarah and Brandon on the intricacies of Ava’s day-to-day care and how to manage the IV nutrition and hydration their daughter would need around the clock.
Navigating a (mostly) normal life under extraordinary circumstances
Now in fourth grade , Ava has a prankster’s sensibility and a taste for adventure. She says she wants a pet snake (though she may just be punking her dad who is afraid of them) and enjoys riding the tallest roller coasters with him. They recently talked Sarah into joining them on Shock Wave, the double loop-de-loop thrill ride at Six Flags Over Texas.
As committed as they are to creating a typical childhood for Ava, Brandon and Sarah also know that people are curious about the medical equipment that is always present in Ava’s life – like the IV nutrition she’s still connected to for much of the day.
“Honestly, it’s a lot to have to explain all the time,” Sarah said. “Especially because we don’t want Ava’s entire identity, or ours, to be all about her health issues.”
Their strategy is to explain just enough upfront, and then wait to see if someone is truly interested in taking a deeper dive. During Ava’s first couple of years in public school, the family would bring in her American Girl doll, who also has a central line and gastronomy button. Ava showed her classmates how she gets her nutrition through a backpack that she carries it in. The full-time nurse who accompanies Ava to school also helps answer questions from others.
“Sometimes I just tell people ‘It’s a long story. It’s a medical thing,’” said Ava, who is thankful to have a friend who lives 10 minutes away, is the same age and has the same, very rare condition. “When I tell her I have to do something – like hook up my IV nutrition – she just says ‘OK, I’ll wait’. It’s nice to not always have to explain.”
Focused on today, with an eye on the future
Thanks to the combination of her parents’ diligence and her medical team’s expertise, Ava’s quality of life is good right now – and everyone’s goal is to keep it that way for as long as possible. But the reality that MMIHS is a lifelong condition with no known cure is never far from mind.
Treatment for this condition focuses on maintaining the function of the bladder, kidneys and digestive system, and guarding against IV nutrition-induced liver damage, a potential complication of long-term use.
“It’s hard knowing that the nutrition keeping her alive could also be killing her liver,” Sarah said. “Dr. Channa and the GI team do a great job balancing Ava’s need for nutrition with maintaining the health of her liver.”
But if the liver does begin to fail, the next step for Ava, or anyone with MMIHS, would be a multivisceral transplant. This type of transplant replaces the large intestine, small intestine, pancreas and liver with a goal of restoring function to the digestive system. But it is a newer transplant, and more complicated and far riskier than transplants like heart, kidney or liver.
The tricky balance for families like Ava’s is gauging whether a child’s current quality of life is higher than the need for the transplant, while making sure that they don’t get too sick to be eligible for a transplant.
It’s a tightrope that Sarah and Brandon walk with help from the GI team at Children’s Health, as well as the Gastrointestinal Rehabilitation and Transplant team at University of Pittsburgh Medical Center (UPMC) Children’s Hospital, who are leaders in the field of multivisceral transplant. Ava and her parents meet with the team at UPMC once or twice a year, and Dr. Channabasappa consults with them regularly.
The bottom line is that the stronger the partnership between Ava’s family and her Children’s Health care team, the longer she can go without needing a transplant.
“We’re in a good spot right now,” Brandon said. “We’re just going to stay here as long as we can and hope that medical science catches up.”
Read more patient stories like Ava's to learn how Children's Medical Center Foundation impacts the lives of North Texas children.