Mother diligently balances son's life on a spreadsheet
Since he was days old, Mitchell Magyar’s family feared for his life.
Born with a urea cycle disorder, Mitchell’s body could not process protein properly, leading to a build-up of ammonia in his bloodstream. Fortunately for the Magyar family, Connecticut requires newborn screening, which identified the condition before he was a week old.
Now a careful diet regulating his protein intake and a regimen of medications have allowed Mitchell to grow and thrive.
At the center of this delicate balancing act is Mitchell’s mother, Amy Magyar, who measures his food to the gram each day and uses a spreadsheet to track his diet and medication. His mother’s precision has, in effect, replaced the missing part of Mitchell’s body chemistry.
“Eleven months ago, every moment of the day I thought he was going to die,” Magyar said.
The intervention of numerous doctors, plus a crash course in genetics, has allowed her to relax her fears. “I don’t worry about him dying anymore,” Magyar said.
Mitchell has one of six urea cycle disorders, known as ASA or Argininosuccinate lyase deficiency. The disease is genetic and often goes undetected, which can lead to tragic outcomes. According to the National Urea Cycle Disorder Foundation, some doctors estimate that as many as 20 percent of Sudden Infant Death Syndrome, or SIDS, cases are attributable to undiagnosed metabolic disorders like the one Mitchell has.
Mitchell’s care requires an entourage of specialists including a dietician, three different geneticists, a pediatrician, a gastroenterologist, a surgeon, an ear, nose and throat doctor, a Birth-toThree coordinator and feeding specialists.
“Until you have a child like this you don’t even know all these doctors exist,” Magyar said.
Mitchell now has a portacath because his veins shut down after frequent blood draws and IVs. This allows doctors to easily draw blood to test Mitchell’s ammonia.
Because of his urea cycle disorder, Mitchell doesn’t have any desire to eat and he struggles to keep food in his stomach. He now has a feeding tube, which allows his mother to put formula directly into his stomach.
Mitchell still struggles with keeping the food down. Magyar has turned the word projectile into a verb to describe the violent force with which Mitchell empties his stomach.
“It’s so forceful it comes up out of his nose,” she added. “That’s my morning usually.”
Mitchell’s 3-year-old sister, Lilly, has also taken to protecting him. She visits him in his crib every morning and then watches cartoons with him.
“She’ll tell people not to touch him because they might have germs,” Magyar said, describing her daughter’s protective instincts. Lilly recently discovered she can make her brother laugh by saying the word “zipper.”
“They talk to each other,” Magyar said. “She loves to make him laugh.”
Although Mitchell puts almost any plaything into his mouth like most children, he shows very little desire to eat by mouth.
Magyar said Mitchell will drink water through a straw and eat one veggie straw snack each day. She said doctors are unsure if children with urea cycle disorders don’t eat because of the disorder itself or because of their first experience with eating which disrupted their body chemistry.
Instead, Mitchell “eats” through his feeding tube. Magyar prepares a mixture of three different formulas, supplemented with two medications, to balance his protein and caloric intake.
The medicines and formula powders are measured to the gram and input into a spreadsheet designed by the Magyar family specifically for Mitchell.
Arginine, the missing part of Mitchell’s urea cycle, is one of his medications. The other is buphenyl.
“I call it a ‘Pac-man’,” Magyar said. “These medicines go through and crunch up all the extra protein.”
“All the extra protein we don’t need, we just urinate out,” Magyar said, explaining how the urea cycle works normally.
Mitchell’s condition did not affect him until after birth. “While I was carrying him, I was processing the protein for him,” Magyar explained.
Despite his already trying medical history less than one year into his life, Mitchell doesn’t look sick.
“He’s chunky and he’s healthy,” his mom explained. “He’s alert. He babbles. He crawls backwards.”
Magyar said Mitchell is “on target” for an 11-monthold. She firmly believes Connecticut’s newborn screening test helped save her son’s life.
“We watched them do the newborn screening,” she said, recalling the coincidence that had her present while it was done. “It’s like a prick on the heel.”
“Lilly had had it done but we didn’t think anything of it because she was healthy,” Magyar added.
The discovery of Mitchell’s condition set off a chain of telephone calls from the state Department of Public Health to a geneticist to Mitchell’s pediatrician, who contacted the family.
“And by then he was already showing signs,” Magyar said of Mitchell’s condition on day seven. “He was lethargic. He wasn’t eating and was losing weight.”
Coincidentally, as Magyar and her son entered their pediatrician’s office, a geneticist was on the phone with him. Magyar said the doctors calmly told her to go to Connecticut Children’s Medical Center.
“Everyone was so calm we didn’t think anything of it,” she said. “We stopped at Dunkin’ Donuts.”
Mitchell was admitted into the pediatric intensive care unit at CCMC so that doctors could attempt to reduce the dangerously high levels of ammonia in his body.
Magyar said the situation was uncertain. “We were calling a minister to baptize him because we thought he was going to die,” she said.
Magyar said some doctors believe there is a connection between undiagnosed disorders like Mitchell’s and SIDS. She said the SIDS monitor in Mitchell’s room went off the night before he was admitted into the hospital.
If Mitchell’s condition had not been identified, Magyar said, he would have had seizures, slipped into a coma or died within days.
Now the Magyar family’s concerns have shifted. Mitchell’s body chemistry has stabilized, thanks to his mother’s care and precision, minimizing the fears that he will die from the disorder.
However, it is unclear whether Mitchell will suffer any developmental side effects from his condition or the medications that are keeping him alive. Magyar said she knows of a 7-yearold in Bristol and a 5-year-old in New Britain who suffer from urea cycle disorders, although not the exact one Mitchell has.
“We’re going to have normal conversations with our kids,” Magyar said looking toward the future.
Mitchell will celebrate his first birthday on April 25.
For more information about urea cycle disorders or to make a donation in honor of Mitchell Magyar, visit www.nucdf.org.