Over the past four years, Brian and Laura Kleinhans of Greece have ridden the “emotional roller coaster” to new heights as two of their three children have been diagnosed with a rare genetic metabolic disorder called MCADD.
Their daughter Madelyn’s birth in 2008 was, according to Brian, a joyous event. One week later, when her newborn screening results came back, everything changed for the family.
“We were devastated,” Brian said in a recent interview on a sunny day in Frisbee Hill Park. “She was a week old. We didn’t know what was going on or what to expect.”
To raise awareness and give back to the Golisano Children’s Hospital for all it has done for his family, Brian is starting a foundation called Kleinhans Kids. Its first event, a golf tournament, will be held Sept. 2.
MCADD
The Kleinhans soon learned more than they ever thought they’d have to know about medium-chain acyl-coenzyme A dehydrogenase deficiency.
When most people eat, the first thing their bodies turn to for energy is the sugar, or glucose, in their food. Glucose runs out after a few hours, then the body goes after glycogen, a bigger version of carbohydrates stored in the liver. The body will also gain energy by breaking long chain fats into very small chains.
People with MCADD lack the medium-chain acyl-coenzyme A dehydrogenase (MCAD) enzyme that would allow them to break down medium chain fats into smaller chain fats.
“Under conditions where you’re fasting for a long time and you’ve used up your glycogen stores and immediately available sugar, when we would normally turn to our fats to supply energy, that doesn’t work well anymore in patients with MCADD,” Dr. Kristin D’Aco, a pediatrician and metabolic/genetic specialist at Strong Hospital, explained.
Since babies have small livers that are unable to store much glycogen, babies with MCADD are at an especially heightened risk. If they go too long without eating or are unable to hold down food or drink, they can very easily go into metabolic crisis, which can progress into coma and even death.
Living With MCADD
As Madelyn played on the Frisbee Hill Park playground, Brian was prepared with water bottles full of juice — quick sources of calories and sugars. He chose the park for the interview because of its proximity to a relative’s house in case of emergency.
Over the past four years, Brian and Laura Kleinhans of Greece have ridden the “emotional roller coaster” to new heights as two of their three children have been diagnosed with a rare genetic metabolic disorder called MCADD.
Their daughter Madelyn’s birth in 2008 was, according to Brian, a joyous event. One week later, when her newborn screening results came back, everything changed for the family.
“We were devastated,” Brian said in a recent interview on a sunny day in Frisbee Hill Park. “She was a week old. We didn’t know what was going on or what to expect.”
To raise awareness and give back to the Golisano Children’s Hospital for all it has done for his family, Brian is starting a foundation called Kleinhans Kids. Its first event, a golf tournament, will be held Sept. 2.
MCADD
The Kleinhans soon learned more than they ever thought they’d have to know about medium-chain acyl-coenzyme A dehydrogenase deficiency.
When most people eat, the first thing their bodies turn to for energy is the sugar, or glucose, in their food. Glucose runs out after a few hours, then the body goes after glycogen, a bigger version of carbohydrates stored in the liver. The body will also gain energy by breaking long chain fats into very small chains.
People with MCADD lack the medium-chain acyl-coenzyme A dehydrogenase (MCAD) enzyme that would allow them to break down medium chain fats into smaller chain fats.
“Under conditions where you’re fasting for a long time and you’ve used up your glycogen stores and immediately available sugar, when we would normally turn to our fats to supply energy, that doesn’t work well anymore in patients with MCADD,” Dr. Kristin D’Aco, a pediatrician and metabolic/genetic specialist at Strong Hospital, explained.
Since babies have small livers that are unable to store much glycogen, babies with MCADD are at an especially heightened risk. If they go too long without eating or are unable to hold down food or drink, they can very easily go into metabolic crisis, which can progress into coma and even death.
Living With MCADD
As Madelyn played on the Frisbee Hill Park playground, Brian was prepared with water bottles full of juice — quick sources of calories and sugars. He chose the park for the interview because of its proximity to a relative’s house in case of emergency.
Over the past three years, Brian said Madelyn has been in the hospital about 16 times.
MCADD is now recognized as having for many years been an underdiagnosed cause of sudden death in infants, recently expanded newborn screening of the sort that diagnosed the Kleinhans kids has helped make the disorder more manageable.
“We try to make it so the kids don’t feel like they’re different from everybody else, because in the long run they’re really not,” Brian said. “They just need to figure out how to manage it.”
After MCADD
Abby was born in June 2010, without MCADD. Brian said not having to feed the baby every couple hours was a novel experience.
“It opened up a whole new world for us,” he said. “We didn’t know what it was like to not live life by the alarm clock.”
Since Colin was born, the Kleinhans kids make up one-eighth of the Golisano Children’s Hospital’s population of patients with MCADD. Brian said he hopes his foundation, Kleinhans Kids, will raise awareness for the disorder and money for the hospital.
His goal is to eventually hold between six and 10 events through the foundation each year.
“We’re more than willing to help out in any way we can, because not only is it helping our kids, but it’s helping anyone with the disorder,” Brian said.
Though Madelyn is passing through the most dangerous part of her life with the disorder — a healthy adult with MCADD can, according to D’aco, fast for 12 hours or more without complications — Colin is just beginning. Still, Brian said he isn’t too worried anymore.
“With him it was no biggie,” Brian said. “We know how to handle it now, and we firmly believe that you’re not given anything you can’t deal with.”
