rare disease

Woman Cross-Country Skiing Across Norway to Raise Funds for Daughter’s Rare Genetic Disorder

NBC Universal, Inc.

A mother’s love can move mountains and more, just look at Alison Reynolds.

For the past year, she's been hauling 80-pound tires along the C&O Canal towpath for hours at a time to help raise awareness for her teenage daughter’s rare disease.

“My friends and family think it's a little bit crazy, a little bit cool,” said Reynolds, a 46-year-old mother of four.

Tia Piziali has phenylketonuria (PKU) — a rare genetic disorder where food is essentially toxic to the brain because a person's liver can't process protein.

“Growing up, I always had the notion that food was literally toxic for me, so I would always dread my meals, especially in public with other kids at my school,” Tia said.

The 17-year-old junior at Georgetown Day School has relied on medical formula and vegetables to survive. Breaking that strict diet could lead to irreversible brain damage and seizures.

“It takes a lot of self-discipline because I always wanted to cheat and try new foods,” she said.

Keeping Tia healthy was both time consuming and expensive.

“The cooking, the weighing, the measuring, securing the formula, it takes about three hours a day to manage PKU,” her mother said. “Tia’s formula alone costs $140 a day.”

Through the years, Reynolds has held fundraisers for PKU research and has helped raised upwards of $7 million. In 2018, there was a turning point: an FDA-approved drug called Palynziq. The medication allows people with PKU to eat foods that were once strictly off limits.

“I started with pasta, then pizza, then mac and cheese and eventually I tried meat for the first time,” Tia said. “Now I’m eating bacon every day. It’s one of my favorite things.”

Her family raised the money to fund development of the drug she's now taking, and they're not stopping there. Reynolds wanted to do something different this year to raise awareness about PKU while paying tribute to Dr. Ivar Asbjørn Følling, the Norwegian researcher who discovered the disease in the 1930s.

“It hit me like a flash,” Reynolds said. “I should honor his legacy by doing something I love: cross-country skiing across his country and raise awareness and research funds.”

Beginning Feb. 21, she plans to ski across a frozen section of Norway just below the Arctic Circle over nine days, trekking 15 miles each day in the snow and subzero temperatures while hauling a 90-pound sled with all of her supplies and equipment. Reynold’s training is something you’d expect from an Olympian: running for nine miles, followed by two hours of spin and another hour in the gym. Other days she might pull tires for three hours and then go to the gym for an hour.

The expedition will be a test of her mental and physical endurance, but she said she’s ready.

“She always told me the endurance I have to have is nothing compared to the endurance you had for the 17 years where you had to stay on diet,” Tia said.

If all goes as planned, Reynolds and her guide will wrap up their trek across Norway Feb. 29, which is International Rare Disease Day. Tia and other relatives plan to join Reynolds on the final day, and they’ll ski the last leg of the trip together.

Reynolds has raised almost $900,000 from supporters for PKU research. You can donate, follow her expedition and learn more about PKU research here.

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