A mom is skiing across Norway to raise PKU awareness

WASHINGTON — For 125 miles over snow and ice, a Washington, D.C., mother will cross-country ski across Norway later this month to raise money and awareness for her daughter's rare genetic disorder.

Beginning Feb. 21, Alison Reynolds plans to ski almost 15 miles a day with a guide in the backcountry of Norway near the border with Sweden. She will pull an 80-pound sled of water, food and equipment over nine days, sleeping in a tent at night.

Her trek will end in Trondelag, an area that was home to the Norwegian biochemist who discovered and named the metabolic condition afflicting her 17-year-old daughter.

“I wanted to do something physical to raise awareness of PKU,” Reynolds said. “We had done dinners and galas to fundraise. This is different.”

After about a year of training and promoting her Norwegian journey in a blog, Reynolds said she has raised about $890,000 — more than double her original goal — from friends, family and businesses.

Her daughter Tia Piziali, a junior at Georgetown Day School, said she admires her mom's dedication to training and efforts to shine light on a little-known disorder she's lived with since birth.

“I'm really proud of her,” she said. “She's brave and a big adventurer.”

Tia has phenylketonuria, often referred to as PKU. A person with the condition has a damaged enzyme that breaks down an amino acid called phenylalanine, or Phe, which is found in protein and many foods.

Without that enzyme to process Phe, PKU patients can have a dangerous buildup in the bloodstream if they eat foods with high levels of protein, such as milk, nuts, pasta and cheese. Typically, a PKU patient can consume six to seven grams of protein a day, compared with other adults, who can consume at least 50 to 60 grams daily.

For a person with PKU, a high level of Phe can lead to brain damage.

“It basically means that food is toxic to a PKU patient's brain,” said Reynolds, 46.

Reynolds' journey across part of Norway has gained attention in the PKU community. Many have followed her training regiments, which include pulling tires along the C&O Canal in Washington or sleds of firewood in the mountains of Montana, Colorado and Vermont. She spends at least four hours a day working out to prepare.

She said she and her husband have spent their own money for travel and gear, hiring trainers and ski experts. She recently left Washington and plans to return early next month.

Reynolds expects to have plenty of quiet time — in short supply in a house with four children — while skiing with a guide in a single-file formation. It will allow her to reflect on her family's journey with PKU, she said.

“I expect it will be a combination of trying to live in the moment and watching the conditions and terrain to be safe,” she said. “It will also likely be a sensory overload.”

Staci Kasprzyk, a Buffalo, New York, mother whose 5-year-old daughter has PKU, met Reynolds nearly four years ago at an event in Washington. She said Reynolds is “showing everyone that she's going to do everything she can to try to find a cure.”

“She's not only doing it for her own daughter, she's doing it for everybody else,” Kasprzyk said. “She's showing us that she's willing to do anything to help out and do her part.”

PKU patients have to stick to a strict, very low-protein diet and consume medically modified — and expensive — formula and foods. An eight-ounce box of pasta for someone with PKU costs about $15, and a loaf of bread can cost more than $10. Families can spend tens of thousands of dollars a year on foods that are rarely covered by insurance.

There are no outward signs of PKU at birth. In the United States — where about 16,500 people have the condition — it is diagnosed shortly after birth through screening that began in the 1960s. Newborns are tested with a blood sample from the heel of the foot.

PKU patients can suffer from migraines, learning disabilities, seizures, trouble concentrating or behavioral issues. A person with high levels of Phe in their blood can suffer irreversible neurological issues.

The disorder is typically passed to a child when two parents are carriers but often don't know they have it.

A few days after Tia was born, Reynolds got a call from a lab in California indicating that her daughter tested positive for PKU.

“We had never heard of it,” she said.

Reynolds, a former marketing executive in Silicon Valley, threw herself into learning all she could about the condition while caring for Tia and her three other children.

For Tia, there were frequent struggles. When her Phe levels were too high, she felt like she was in a fog. Low energy would keep her from regularly playing tennis and lacrosse.

She sometimes would drink formula developed for those who suffer from PKU in a bathroom stall to avoid being teased.

There were few drugs on the market to help those with the disorder 10 years ago. Developing drugs is costly, and because PKU afflicts relatively few people, the market for sales is small.

Tia's family thought more should be done.

Her grandfather, Richard Michaux — who helped to lead large real estate companies before retiring — helped establish the National PKU Alliance, which raises awareness for the disorder. The organization also spends about $800,000 a year to help fund research and development, as well as drug treatments, Michaux said.

Reynolds said that in the past 17 years, she and her family, along with the national PKU group they established, have raised nearly $7 million.

Raymond Stevens, who has studied PKU for nearly 30 years and got approval from the Food and Drug Administration for a drug treatment that Michaux helped fund, called Reynolds and her parents “heroes for stepping up” in fighting the disorder.

“They had the time. They had the passion. They had the resources and they had the network,” Stevens said. “They wanted to make a difference, and they did.”

The drug that Stevens helped develop, called Palynziq, came onto the market in 2018 with the help of BioMarin Pharmaceutical in San Rafael, California.

Last fall, Tia started using the drug, which she injects daily into her stomach with a 1-inch needle. The drug helps to lower Phe levels in the blood, but it can have side effects — and it's expensive, although treatments are often covered by insurance.

For Tia, the drug has been “a major game-changer,” her mother said.

In December, doctors at Children's National Hospital called with exciting news: Her Phe levels were at zero — something unheard of for Tia.

Tia's grandmother, who lives across the street in the Spring Valley neighborhood of Washington and learned to cook Tia's specialty foods, began to cry when she heard the news.

“It was tears of joy,” Reynolds said. “We've been waiting 16 years for this.”

Tia has more energy to play sports, can better focus on her studies and, most importantly, has dramatically changed her diet. She's able to eat macaroni and cheese, yogurt, pizza, shrimp and pancakes, all in moderation.

“It's exciting for me that I don't have to eat special food and formula anymore, but it makes me feel bad for other kids,” she said, referring to those who don't have — or can't afford — the drugs. “It is a humbling reminder. It almost feels like I'm cured.”

In Norway, Reynolds plans to call her husband each night so that he can post blog updates on her journey. On the last day of her trip — Feb. 29, which coincides with Rare Disease Day — Reynolds will be met by some of her family and friends in Norway.

Michelle Francis, 44, who lives near Denver and has two children — ages 8 and 4 — with PKU, met Reynolds at a national conference and said she plans to follow her “remarkable” trek on social media.

“I don't know anybody else who would cross-country ski in the middle of nowhere with one other person,” Francis said. “Alison is so determined. I know she'll get it done.”