Who puts the muscle into the push for autism awareness? Parents.
Who staffs those lemonade stands raising millions for childhood cancer research? Again, parents.
Advocating for heart defect screening in newborns? Parents.
“Parent power” was also behind an international conference in Cherry Hill this weekend where people living with PKU, a rare metabolic disorder, learned about new treatments and research.
For parents, it also provided a place to support and encourage each other.
When you visit Philadelphia for the first time, chances are you’ll want to try a Philly cheese steak. Not an option for Christine Brown’s two sons Connor and Kellen.
“They can’t have the bread, they can’t have the steak, they can’t have the cheese. They can have the peppers and the onions, but we have to weigh and calculate those first,” explains Brown.
Two of Brown’s three sons have PKU, which is short for phenylketonuria, a genetic metabolic disease. It prevents digestion of an amino acid in a protein called Phenylalanine. If people with PKU were to eat a normal diet, protein would build up in their brains and become toxic, leading to severe intellectual disability.
“So every bite that goes into my children’s mouth has to be weighed, it has to be measured and then we have to calculate the amount of phenylalanine in it, which is the amino acid that their bodies can’t metabolize,” said Brown.
All children born in the United States are tested for PKU at birth. It’s part of a battery of tests for rare but devastating genetic diseases. Four days after the birth of her daughter Phoebe, Philadelphia resident Jennifer Crowe got a call.
“They told us that our child had something called phenylketonuria and doctors at CHOP . . . were waiting for us, and we needed to get there as fast as we could,” recalled Crowe.
Crowe says she and her husband, Paul, got a crash course on PKU management — and the extremely limited diet Phoebe would be able to eat. Crowe couldn’t stop crying, couldn’t wrap her head around the challenges facing her daughter. Then she sent a message to a PKU listserv, introducing her family. Recalling the responses she received still brings tears to her eyes, almost four years later.
“Just them welcoming us, and telling us that we’re now part of this extended family, and welcome,” she said. “Know that you’ll be OK, that you can do this, and congratulations on your beautiful new child.”
Crowe says listservs and Facebook pages are an oasis where parents and adults living with this rare disorder trade recipes for PKU-friendly foods. Bread is an especially big deal, and they can talk about how to handle birthday parties or summer camp.
Brown is very active online. She now heads the National PKU Alliance. She says when her son was 3, he asked her what would happen to him if he ate a normal diet. She didn’t know how to respond.
“So I reached out to another parent whose child is a little older and I said, ‘Tanya what do I say?'” said Brown. “She says, ‘You tell them that their brain would hurt, you tell them that they wouldn’t be able to learn their 123s and that they wouldn’t be able to learn their ABCs and go to school.'”
Both Brown and Crowe now try to spread the encouragement and support they received when they first had to deal with PKU. They volunteer their time raising money for research and talking to other parents.
Both say it is empowering — and it helps them cope with the everyday challenges of managing this disorder.