For 125 miles over snow and ice, a mother from the District of Columbia will cross-country ski across Norway later this week to raise money and awareness for her daughter’s rare genetic disorder.
Beginning Friday, Feb. 21, Alison Reynolds, 46, 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.
Reynolds’ 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 Tia.
“I wanted to do something physical to raise awareness of PKU,” she said.
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 6 to 7 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.
After about a year of training and promoting her Norwegian journey in a blog, Reynolds said she has raised about $890,000.
PKU patients have to stick to a strict, very low-protein diet and consume medically modified — and expensive — formula and foods. An 8-ounce box of pasta for someone with PKU costs about $15, and a loaf of bread can cost more than $10.
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.
Her grandfather, Richard Michaux helped establish the National PKU Alliance, which raises awareness. The organization also spends about $800,000 a year to help finance research and development, as well as drug treatments, Michaux said.
Raymond Stevens, who has studied PKU for nearly 30 years and got approval from the U.S. Food and Drug Administration for a drug treatment that Michaux helped fund, called Reynolds and her parents “heroes.”
The drug Stevens helped develop, called Palynziq, came onto the market in 2018 with the help of BioMarin Pharmaceutical in San Rafael, Calif.
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.
In December, doctors at Children’s National Hospital called with exciting news: Tia’s Phe levels were at zero.
Tia has more energy to play sports, can better focus on her studies, and can now 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.”