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Mitchell then and now - "Paving the way" through a rare genetic disease

April 01, 2018

Mitchell enjoys recess and math and, at nine years old, has an ordinary on-again off-again relationship with his older sister. In appearance and activity, he’s a typical child—the very picture of health. That picture is a radical reversal from his early months, when it was far from certain he’d survive to his first birthday.

“They basically handed him back to me at 14 days old and said that he might not survive the first year, and probably would not see five years,” said Mitchell’s mother, Amy. “So the fact that he is going to be turning 10 in April is an absolute miracle and blessing.”

While today Mitchell appears healthy, the first three years of his life were riddled with uncertainty and fear as he battled an inherited enzyme deficiency that affects how the body removes the waste that is made from breaking down protein, leading to toxic levels of ammonia building up in his blood. Mitchell’s condition, Argininosuccinic Aciduria, one of six Urea Cycle Disorders (UCD), is chronic. His current stable state is dependent on an exactingly regimented diet of formula and medications delivered to him four times a day through a tube into his stomach. While Mitchell has not had an attack of worryingly high ammonia levels since shortly after his birth, the threat of one developing is a daily specter for Amy.

“When I try to tell people the stress and the worry, and that there is no prognosis, and that he could wake up tomorrow morning and be so ill that he could pass away—not many people can truly understand that, because today, he looks like any other child,” Amy said. “It’s very difficult to figure out this condition, because there’s really no rhyme or reason to it. That’s why we have participated in studies; I’m hoping to pave the way for other individuals and parents.”

UCD is a rare, medically mysterious, and largely unknown condition. Its symptoms are widely variable from person to person, and the long-term effects of having it—even barring frequent ammonia attacks—are uncertain. “He could be hyperactive or tired or seem ‘off.’ These could be symptoms of him having an ammonia attack. This could also just be him being a typical nine-year-old, and he’s developing his own personality. The symptoms are unknown,” Amy said. “So, truly, I don’t know if Mitchell is having any symptoms; I don’t know if he’s sitting here at home and he’s having an ammonia attack. That’s very scary to me.”

When Mitchell was 10 months old, Amy enrolled him in a longitudinal study that started at Yale and now continues through Boston, to learn more about Urea Cycle Disorders through observation. While there is still no cure for his condition, researchers are continually learning more to develop different treatments and medications to manage it. Thanks to his formula and medications, Mitchell has been largely stable since the initial years following his diagnosis.

“Whenever I leave the Children’s Hospital with Mitch, I always think, there are so many families that have it so much harder than we do, and that I’m so fortunate, every single day, that Mitchell is as healthy as he is,” Amy said. “That’s why I like to be able to participate in these studies, to be able to pave the way and hope to be able to provide information that will assist other families in making their lives easier. Because every day that we leave the hospital—Mitchell holding my hand and walking out together—is a wonderful day for me.”

Submitted by Zachary Restifo on March 04, 2021