Limitless Dreams for Connor and Kellen, Thanks to Newborn Screening

June 27, 2013 Published in Newborn Screening and Genetics

http://www.aphlblog.org/2013/06/limitless-dreams-for-connor-and-kellen-thanks-to-newborn-screening/

 

By Nancy Maddox, writer

Connor (back) and Kellen Brown standing beside the machine that screened their bloodspots years ago – the very machine that saved their lives.

Connor (back) and Kellen Brown standing beside the machine that screened their blood spots years ago – the very machine that saved their lives. –Photo by Jan Klawitter/WSLH

Christine Brown, executive director of the five-year-old National PKU Alliance, knows all about the ups and downs of newborn screening—a life-saving public health program that changed her world, not once, but thrice.

“In college, my ultimate career goal was to be the voice for people who had no voice,” she said. “Never in a million years could I foresee that the voices I would come to represent would be the voices of my children.”

Christine gave birth to her second child, Connor, in August 2005, and, “just assumed that everything was going to be fine,” as it had been with her first.

She said, “I remember going to see our family physician when he was a week old, and the physician saying, ‘I wonder if Connor’s newborn screening results are back.’ They weren’t.”

Two days later, she got “that phone call that every parent remembers so vividly.” Connor had a presumptive positive result for phenylketonuria (PKU), a genetic disorder that requires a lifelong, low-protein diet to avert irreversible brain damage from the accumulation of undigested phenylalanine in the body.

The rural Wisconsin hospital where Connor was born had never received a positive newborn screening result for a baby before.

Christine was told Connor needed a confirmatory test as soon as possible. “Of course, this all happened when my husband was at work, and I had had a C-section, so I wasn’t even supposed to drive,” she said. Nonetheless she drove herself and Connor to the local hospital, which, not being a birthing facility, had no newborn screening cards on hand to collect a few drops of Connor’s blood for additional testing. A nurse told Christine to come back the next day.

When that second test was finally complete, Christine got another phone call. This time she was in the car driving.

“I remember stopping the car and hyperventilating. They had to get the dietician on the phone to calm me down.”

The test was positive, meaning Connor did indeed have PKU.

After that day, Christine said she and her husband, Kevin, “felt our whole world had shifted and it was never going to be the same again. And we sort of mourned the loss of something that was so central to our newborn child.” Christine said, “I’m sitting here rocking this newborn baby, and I’m wondering, ‘What is he gonna eat on his prom date in high school? Or at a business meeting?’ He’s never going to eat a Wisconsin bratwurst at a baseball game or taste Wisconsin cheese.”

Shortly thereafter, Christine and Kevin went to see a genetic counselor at the University of Wisconsin Waisman Center in Madison. “And the first thing the counselor said when she met us,” recalled Christine, “was ‘Congratulations on the birth of your new son.’”

“That really gave me pause. That made me remember we still had a miracle here. We still had this beautiful baby boy, even though his life was going to be different.”

Nonetheless, she said, “It probably took six or seven months before I could look at Connor and not see PKU as the first thing… I met an adult with PKU and she said, ‘Your child has PKU. PKU does not have your child.’”

After that, Christine said, “My husband and I made a conscious decision that we were not going to let PKU limit the goals and dreams we had for our child. And we didn’t want Connor to see PKU as limiting; it’s such a small part of who he is.”

Today, Christine describes her son as a “bright and energetic seven-year-old” whose dreams are limitless.

Connor wrote a letter to President Obama, declaring his own plan to run for president of the United States in 2040 and laying out his platform: working for peace, helping people work together to better their communities, and providing support for poor people. President Obama wrote back.

Connor, said Christine, “has now decided he wants to play football for the Wisconsin Badgers. And he wants to be Pope. None of that would have been possible without newborn screening.”

In 2007, Christine learned she was pregnant again. She and Kevin were excited and happy to welcome their third son, Kellen later that year. It didn’t faze them that Kellen also has PKU.

“It didn’t matter at all,” said Christine. “We knew PKU was manageable. It wasn’t limiting Connor in his life. And we thought they can both be on this crazy diet together and have one another for support. I thank God that we live in a time and a place where we have newborn screening. It saved Connor’s and Kellen’s life.”

Kellen is now a healthy five-year-old. His mom says, “He has no fear whatsoever. He loves to dance, and he loves to sing, and he’s excited to start baseball this spring, and he’s definitely the comedian in the family.”

The third life change PKU wrought for Christine and her husband was in the professional realm. Kevin, a chef and culinary instructor, developed a series of low-protein cooking classes featuring such dishes as broccoli burgers and roasted vegetables in an apple cider reduction sauce. “You have to be creative and have fun with it and get your kids involved in the kitchen,” said Christine. “You can still carry on those rich family traditions that center around food, but in a different way.”

And Christine, who had a history leading non-profit organizations, now finds herself as the first director of the National PKU Alliance. The organization works to improve the lives of people with PKU through education, advocacy and support for research to expand treatment options and pursue a cure.

“I’m where I need to be in my life,” said Christine. “I have the best jobs in the world: running the PKU Alliance and being a mom to my boys.”

 

About Wisconsin’s Newborn Screening Program

Newborn screening is a special blood test for newborns. Babies born in Wisconsin are screened for rare, serious, hidden disorders that, if not treated quickly, can lead to severe health problems and sometimes even death. Just a few drops of blood from a newborn baby’s heel are put onto a special test paper and sent to the Wisconsin State Laboratory of Hygiene to be tested. Babies also have their hearing and hearts screened at the hospital before going home, or by a midwife if born at home. The program is administered by the Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison and the Wisconsin Department of Health Services.

To learn more:

Wisconsin State Laboratory of Hygiene Newborn Screening Laboratory – http://www.slh.wisc.edu/clinical/newborn/

Wisconsin Department of Health Services Newborn Screening Program – https://www.dhs.wisconsin.gov/cyshcn/newbornscreening.htm