Rare Genetic Disorder All Too Common in One Family
As new parents, Brian and Laura Kleinhans weren’t sure what to expect when they brought their daughter home from the hospital in October 2008. So they tried to take it in stride when Madelyn spent most of her time asleep and ate very little. Madelyn cried every hour and would try to nurse until she passed out.
Laura wanted to succeed at breastfeeding and didn’t want to introduce a bottle too early, so she pressed on. But when Brian’s sister-in-law, Erin, saw Laura struggling, she encouraged the couple to trust their instincts and give Madelyn a bottle with breast milk in it.
Doctors believe that Madelyn wouldn’t have made it to the morning if they hadn’t.
“That’s something as a parent that you never want to hear about your kid,” said Brian.
Three days later, the family pediatrician called them to his office to receive the results of Madelyn’s newborn screening.
Madelyn was born with a rare genetic disorder of the metabolism that affects roughly one out of every 12,000 to 17,000 children called medium-chain acyl-CoA dehydrogenase, or MCAD, deficiency. Because of her disorder, Madelyn is deficient in an enzyme needed to convert fat from her body and her food into energy. If she doesn’t eat every four hours, her body attempts to use fat for energy and her blood sugar drops very quickly, which can progress to metabolic shock, then eventually coma and even death. The bottle-feeding saved her life.
“At first we were devastated,” Brian said, “but after sitting down and talking to our doctors we understood this wasn’t the end of the world. We did have a long road to understanding the disorder and how we, as a family, would come to deal with it, but we knew we were in good hands.”
“Madelyn only has four to six emergency visits a year,” Brian said. “But whenever we come in to the hospital the staff talks with us, asks us how we’re dealing with things, what our routines are and what we could do better.”
The Kleinhans family has worked closely with the Genetics Division at Golisano Children’s Hospital at the University of Rochester Medical Center to learn more about her disease and to streamline her treatment when she gets sick. The first night the Kleinhans family brought Madelyn to the emergency department, they were sent to the waiting room because Madelyn wasn’t visibly ill. Because of MCAD deficiency’s rarity, many medical professionals don’t realize how severely it can progress. After an hour in the waiting room, Madelyn’s blood sugar numbers crashed.
“We were on the verge of a really bad crisis,” Brian recalled.
This episode became a learning experience for everyone. Since Madelyn’s first hospitalization, Madelyn’s trips to the ED have gotten much quicker. “We call the geneticist before we are about to leave for the hospital so that they’ll have everything ready when we get there. From the time we call, to the time when Madelyn is hooked up to her IV and getting the nutrients she needs, is less than half an hour, including the drive,” Brian said.
But what’s really helped to empower the Kleinhans family in their endeavor is that the hospital gives them the power to make the call on what to do when Madelyn isn’t feeling well. “When they call to say there is an issue, it’s usually pretty serious,” said Elaina Howell MS, PNP-BC, one of Madelyn’s metabolic providers. “You need to take into consideration that parents are the experts on their children. They know when something isn’t right.”
Because of this empowerment and the closeness that the Kleinhans family has developed with the hospital, when Colin Kleinhans was born on March 13, 2012, and was subsequently diagnosed with MCAD deficiency, the family was able to take it in stride. “We’re sharp in our routines and we understand the road ahead of us,” Brian said. “We know we’re in good hands.”