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Local people live a normal life despite a rare genetic disorder

Local people live a normal life despite a rare genetic disorder

By Diane Pathieu. CREATED Jun 28, 2011

MILWAUKEE - Thanks to newborn screening, doctors are able to detect many life-changing disorders as soon as a baby is born, and prescribe the proper treatment. Here's an inside look at what it's like to live with one of those conditions.

5-year-old Hannah Beckman loves to make bread with her mom Patty. Meanwhile, 21-year-old Kurt Sensenbrenner likes to fry up potatoes in his apartment near UWM. Seems like two very normal activities right? The only catch: Kurt and Hannah must follow rigid diets, because they suffer from a rare genetic disorder called PKU.

Kurt admits, "When you first explain it, people don't get it."

PKU and other related disorders are detected at birth thanks to Wisconsin's newborn screening program. Hannah's mom Patty recalls the day she got the call that her daughter tested positive for PKU.

"I think at the time it was just scary. No one in our family has ever had it, I didn't know anyone that had it," Patty says.

PKU is a rare condition where the body cannot break down an amino acid called Phenylalanine. Dr. David Dimmock specialize in childhood genetic disorders at Children's Hospital and the Medical College of Wisconsin. He explains, "You need a certain amount of it to build all the proteins that your body is made of, but if you have too much of it, it actually damages the brain."

Thanks to a state program, doctors provide a subsidized formula to these patients. It helps them regulate their protein levels, and essentially keeps them alive and well.

"I'm very thankful that Wisconsin has and continues to test, and supplies the formula because other states don't do that, and it's a huge burden and cost," Kurt says.

In addition to the formula, patients must eat a very restricted, low-protein diet.

"It's easier if you just kinda laugh about it you know. I always tell people I'm a forced vegetarian," Kurt jokes.

Patty tries to take the focus away from food in her household. "In our family we try not to have everything different--when we eat we try to have food that not only we can eat, but she can eat."

It can be a challenge, but it's nothing precocious little Hannah and documentary film student Kurt.

"I do not feel I was dealt a bad hand. Hannah is an absolute delight. I can't imagine my life without her," Patty says.

Kurt adds, "I don't really think about it when planning my future, and that's a nice thing."

Dr. Dimmock hopes one day there will be a federal law mandating health insurance companies pay for medically necessary food like this formula, but for now, it's covered on a state-by-state basis.

Children's Hospital currently cares for about 100 PKU patients, and there are about 500 in the state of Wisconsin.