Mother diligently balances son's life on a spreadsheet

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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 .

Photos
Credit: 
Photo courtesy of Amy Magyar
Caption: 
Amy Magyar and her newborn son, Mitchell, two days before he was diagnosed with a urea cycle disorder. Eleven months later, Mitchell is thriving thanks to his mother’s diligent care.