D.C. mom Alison Reynolds trains in Vail for her 9-day cross-country ski trek across Norway to help fund research on rare disease
Alison Reynolds runs wearing a harness attached to a heavy tire. What keeps her going is knowing that her athletic efforts will eventually help her daughter, Tia.
Tia, 17, has a rare genetic disorder called phenylketonuria, often referred to as PKU. Reynolds will embark on a nine-day, 134-mile cross-country ski trek through Norway on Friday to raise money for the National PKU Alliance, a nonprofit that aims to find a cure.
Though the family is from Washington, D.C., Reynolds trained for the trek at the Vail Nordic Center with Dan Weiland and has been coming here with her parents and now her own family for many years. The whole family spent the December holidays here, celebrating and training for the big trek. Reynolds flew out four more times to train.
“I had been thinking about doing a physical challenge to raise awareness for PKU on an international scale,” she said.
Then, she realized that the 85th anniversary of Nordic biochemist Ivar Asbjørn Følling’s discovery of PKU was coming up and the pieces all came together for her cross-country trek.
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“I’m actually skiing right through the area where he grew up on a farm,” she said. “I flew over to Norway last February and met his daughter, Ragna, who’s 92. I was at her apartment, and she had all these boxes of old photos.”
PKU is a genetic disease that creates a deficiency of the liver enzyme responsible for processing the amino acid phenylalanine. Følling was nominated for a Nobel Peace Prize for discovering it. He also found that infants diagnosed with PKU can grow and develop into normal children and adults, provided their diets don’t contain phenylalanine.
“He’s very important to us,” Reynolds said.
But that’s precisely the problem. Phenylalanine is found in a wide variety of food sources, including mother’s milk, meat, dairy, lentils, peanuts and sesame seeds to name a few. Because people with PKU don’t have the enzyme necessary to digest it, consuming it can lead to brain damage and other health problems. As a result, Tia’s diet consisted of a medical nutrition formula consumed four times a day and small amounts of fresh vegetables and fruits. That’s all she ate for years.
“Imagine every holiday, every birthday party, every restaurant we go to … eating is social and Tia is told ‘no,’” Reynolds said.
The disease is rare: Reynolds said there are roughly 15,000 people living with it in the United States today. It’s inherited as an autosomal recessive trait: both parents must carry the defective gene and the fertilized embryo must have both. That means that most children born with PKU received it from parents who didn’t know they were carriers.
“There’s a lot known about it, they just don’t know how to cure it,” Reynolds said.
Since her daughter was diagnosed, Reynolds has worked tirelessly to help find a cure and develop drugs that can improve quality of life in the meantime. She also plans galas in different cities in the United States. But because it’s a rare disease, Reynolds said, big pharma isn’t spending many resources researching PKU, and that’s why most research is funded by donation.
“When Tia was born, there was one viable research project going on, and now there are 25 or 30,” she said.
In September, Tia started taking Palynziq, a drug that the Reynolds family funded research on when their daughter was 1 year old. She delivers it to herself with a small injection in her thigh, and the drug allows her to eat more protein, and hence more food, without causing harm.
“If she responds to it, this could be a real game-changer for her. It’s not a cure, but it’s a step in the right direction. We’re pretty pumped about it.” Reynolds said.
Tia has responded well to the drug and is now able to eat 50-60 grams of protein a day without brain damage. She’s eating certain foods for the first time ever: boxed mac and cheese, chocolate croissants, ice cream, pizza, sushi and even orange juice are no longer off limits. She also doesn’t drink formula four times a day anymore.
But while work like that captures a good chunk of what Reynolds does, since December 2018, she’s been adding a different kind of work: she’s been working out.
Reynolds played soccer at Rollins College, so in some ways, she was prepared for the training she was about to undertake. Working with spreadsheets full of endurance workouts and hour-long strength training sessions in the gym weren’t a foreign concept. While in Vail, she spent time running trails and hiking with a weighted backpack during the summer, and during the winter, she spent time with Weiland at the Nordic Center between runs on Vail Mountain with her family.
“I’m in the best shape of my life,” she said.
While in Norway, she’ll be led by Elise Koren, a guide who will do the trek right alongside her. She’ll carry all her food and camping gear on a sled attached to her waist with a harness. In total, the rig weighs 90 pounds. The whole trip is designed to be self-contained, and pulling the tire is how she learned to drag her supply sled. She will ski 9-10 hours each day before camping each night, with stops scheduled every 50 minutes for hydration and a snack, which will be high-protein, high-fat.
“You sweat a lot when you cross-country ski. If you stop for more than a few minutes, you get hypothermia,” Reynolds said, adding that Norway’s wet climate doesn’t help matters.
Reynold’s commitment to athleticism precedes her. Her mother, Ginny Michaux, was part of a three-person team that skied the last nautical degree at the North Pole in 2000. It took them 12 days.
“I’m wearing some of her gear,” Reynolds said. “She has such a knowledge. She keeps giving me advice.”
On the last leg of the trip, Reynolds’ husband and three younger kids, as well as members of the National PKU Alliance, will join her to complete the last leg together. They’ll cement the idea that while living with PKU requires struggle and unwavering discipline, it’s not something that has to be faced alone. A collective effort is what’s going to eventually find a cure.
“I just imagine that one day, a baby diagnosed in a newborn screening, they’ll say, ‘Your baby has PKU, but there’s a cure,’” Reynolds said.
Donations to the National PKU Alliance can be made at npkua.org.