Pulling for a Cure

Published in the Midwinter/Spring 2020 issue of Vail-Beaver Creek Magazine

Chances are that if you found yourself snowshoeing or backcountry skiing this past holiday season somewhere around Camp Hale—a snowy plateau at the foot of Tennessee Pass that served as a proving ground for World War II’s 10th Mountain Division soldiers—you probably passed Alison Reynolds on the skin track. Although, it’s more likely she passed you; the 46-year-old mother of four from Washington, DC, has been subjecting herself to grueling strength and endurance workouts since last February to prepare for a 134-mile trek across Norway on cross-country skis to raise awareness of an exceptionally rare genetic disorder her daughter was born with 18 years ago.

On February 21, Reynolds will depart from a remote section of Swedish wilderness and plod west across a frozen section of Norway that arcs just below the Arctic Circle. Over nine days, she’ll spend 9 to 10 hours a day hauling a pulk sled loaded with 80 pounds of gear. When she’s skiing, she’ll have to stop to eat a high-protein/high-fat snack and hydrate every 50 minutes to replace the calories she’s burning and the water vapor she’s losing through exhalation and sweat, making sure to bundle up with full-length, down jackets to prevent hypothermia from setting in. Since the Scandinavian sun sets at 4 p.m. during the frigid winter months, she and her guide—an expedition leader from the Norwegian adventure company Hvitserk—will spend a couple hours each evening picking their way across the frozen landscape by headlamp. At night—when temperatures are expected to dip to as low as -20 degrees Fahrenheit—she’ll hunker down on the snow to sleep. On February 29, assuming all goes as planned (e.g., there are no snowstorms, they don’t get lost, and the snow isn’t too deep), when Reynolds arrives in Hell, a bucolic village on Norway’s western coast, she’ll have completed roughly the equivalent of eight marathons over nine days.

To prepare her body and mind for such an ordeal, in addition to pulling tires along the C&O Canal recpath, hiking with a weighted backpack, and logging hundreds of hours of coached strength and endurance training sessions at the gym in her DC-area hometown, Reynolds has been making regular sojourns to the Vail Valley to fine-tune her regimen and train at altitude with Ski Club Vail’s head Nordic coach, Dan Weiland.

“Alison is incredibly determined, and she’s athletic,” says Weiland, whose résumé includes long-distance, point-to-point ski races, like the Grand Traverse, which covers 40 miles and 7,000 vertical feet between Crested Butte and Aspen in Colorado’s rugged Elk Mountains. “One of the biggest things we actually focused in on was making sure she had the proper equipment for the environment she’ll face … your biggest limitations are your feet (blisters) and if you get cold, those are really things you have to look out for.”

Over the summer, they ran intervals up Vail Mountain with long ski poles—a dryland training technique called hill bounding—to mimic the motion of sliding on cross-country planks, and in the winter, they completed several long-distance ski tours near the summit of Tennessee Pass.

“I love this part of the project; I feel great and I see the results, but I also know I have to do it,” says Reynolds. “I wanted to raise funds and raise awareness, and I liked the idea of a physical challenge—this [journey] combined everything.”

The day in 2002 that Alison Reynolds took her oldest child, Tia, home from the hospital was a day she’ll never forget, partly for reasons few other new parents could ever imagine. Among the series of tests newborn babies are subjected to in the United States via the federal Newborn Screening Program, Tia had tested positive for phenylketonuria (PKU)—a rare genetic disorder affecting the brain that affects one in 15,000 babies born in the United States each year. Those born with PKU lack the ability to process an essential amino acid called phenylalanine, a basic metabolic building block found in all proteins. Left untreated, phenylalanine levels continue to rise in the blood, resulting in irreversible brain damage and neurological complications, including reduced IQ, migraines, learning disorders, anxiety, depression, behavioral issues, seizures, and development disabilities.

“I had never heard of [PKU],” recalls Reynolds. “She was three or four days old, and we had just gotten her home from the hospital when we got the call … they told us it was probably a false positive, but we needed to immediately get in the car and go to the lab, and it was Sunday, so they opened just for us.”

The confirmed diagnosis came soon after; Tia had classic PKU, the most severe form, which meant that any food containing phenylalanine—found in all protein from beef, chicken, pork, tofu, fish, beans, milk, nuts, seeds, pasta, whole grains, and many vegetables—was toxic. Worst of all, since there was no cure or for PKU, or a medication to alleviate the symptoms, the only way to avoid the onset of PKU’s most devastating neurological manifestations was to abstain from anything that contained high levels of phenylalanine. As a diagnosed newborn, that meant Tia’s primary source of food was immediately switched from breast milk to a prescription formula that would be her main source of sustenance for the rest of her life.

To this day, that treatment and prognosis for children born with PKU still hasn’t changed, and it’s also incredibly expensive to manage—even with insurance. Despite federal guidelines that every newborn be screened for PKU, specialized formula to manage the disorder costs $10,000 a year, and only 38 states require that insurance covers it. And that doesn’t account for the frequent doctor’s visits that go along with monitoring the disorder.

Now a 17-year-old high school student in the Washington, DC, area, Tia loves to ski—especially on family trips to Vail—and play tennis. She’s a gifted writer, and her favorite subject is history; she’s also involved in policy advocacy programs at her high school. She still drinks the synthetic formula she’s depended on since she was a baby for about 80 percent of her dietary needs, and the other part of her diet comes from an assortment of meticulously weighed-out fruits and veggies—320 milligrams of phenylalanine a day, to be exact; a banana, for instance, contains about 70 milligrams of phenylalanine—and a low-protein medical food.

“It’s a really restrictive diet, and it’s not sustaining food—one characteristic you often hear with PKU children is that they’re hungry all the time,” says Reynolds. “We have managed to limit effects on her cognition through very careful, conservative management of PKU from the time of diagnosis; she has managed to excel in school, where some kids haven’t been as lucky.”

Left to right: Ginny Michaux, Tia and Alison Reynolds at the Michaux home in Vail VillageIMAGE: RYAN DEARTH

Alison Reynolds got her first pair of Nordic skis from her mother as an 11-year-old living in suburban Virginia; three or four times a winter when the DC area was blanketed in snow, Reynolds and her brother would whisk around the labyrinth of powder-packed bike paths behind their house. When her parents bought a timeshare in Lionshead, she ended up taking that same pair to Vail, where she’d explore the nearby backcountry playgrounds of Vail Pass, Camp Hale, and Homestake Road during frequent time spent at her family’s second home on the Vail Golf Course—which would transform into Vail’s Nordic ski course when the greens were coated with snow each winter.

It’s only fitting that Reynolds’s mother, Ginny Michaux, gifted her that first Nordic setup. Two decades ago, in her fifties, Michaux was a frequent fixture (if not a spectacle) in Vail’s backcountry, where she’d haul oversize tires through the snow in preparation for two polar expeditions to study the effects of climate change and melting sea ice in the Arctic. In 2000, she pulled a 100-pound sled about 100 miles to the North Pole, navigating across an endless field of jumbled, melting sea ice, and later that year, she camped on the ice for two weeks while skiing around the South Pole station in Antarctica. She also skied 50 miles across the Transantarctic Mountains during her time at the bottom of the world. “It was the hardest thing I ever did,” she said of the expedition in a 2005 profile that ran in Vail-Beaver Creek magazine. “But every minute of effort was worth it.”

When Tia was born in 2002, Ginny and her husband—Dick Michaux, a former Navy-officer-turned-real-estate-developer who in the 1990s built a luxury rental company valued at $5 billion—threw themselves into philanthropic work to try to find a cure for their granddaughter. They quickly realized that their biggest hurdle was that PKU was such a niche disease—perhaps 16,500 Americans are living with the condition today—that research simply wasn’t a priority within the medical community (at the time, there was only a single funded project).

“My dad had a friend in Washington, DC, who was involved in the Cystic Fibrosis Foundation, and he was sharing with my dad what they were doing in terms of raising funds for research,” explains Reynolds. “When you’re a rare disease, big pharma isn’t interested in you, the onus is on you to create your own pipeline of drugs … we figured that out early on, and we agreed as a family that we were going to take it on.”

Using the Cystic Fibrosis Foundation as their model, the family’s first big fundraiser for PKU research—planned in coordination with Tia’s other set of grandparents—was held in San Francisco around the time Tia turned 2 and raised a whopping $400,000 in one night. That success set something else in motion—the establishment of the Michaux Family Foundation for PKU, which directs funds to PKU research, and the National PKU Alliance (NPKUA), which provides resources to families with PKU-diagnosed children and helps evaluate and expedite grant proposals for approval—both seeded by Ginny and Dick Michaux in 2007 and 2008.

“It’s not a scattered project anymore,” says Ginny, who still serves as a member of the NPKUA’s Scientific Advisory Committee. “We’ve got the best practitioners and the best scientists interested in it, and PKU [advocacy efforts are] now looked at as a model for other rare diseases of a metabolic nature as well.”

The galvanized effort has had results—10 years ago, there was only one drug on the market that could ease PKU symptoms, and it didn’t work for PKU patients like Tia, who has the most severe form of the genetic disorder. Now, more than 20 companies have invested or expressed interest in research and development for new PKU drugs. The family’s early involvement in fundraising has spearheaded much of that effort; in 2018, the Food and Drug Administration approved a new PKU drug that took 16 years to develop, largely thanks to funds raised by the NPKUA. Tia started taking the drug this fall; by January, Tia was responding so favorably to the drug it seemed likely that she soon would be able tolerate more protein in her diet, her mother says.

“Today was a full-circle life moment,” Reynolds wrote at the time on her Instagram account, @crossingnorwayforacure, which documents her training for the Norway trek, along with a photo of Tia injecting herself with the drug. “That new PKU drug Tia is injecting in her leg is Palynziq—we have helped support its development since she was ONE YEAR OLD. Thank you from the bottom of our hearts to our loyal donors!”

Building off the success of black-tie galas, both the Michauxs and Reynoldses have frequently sought out more unconventional fundraising methods too. In 2008, Dick Michaux—then 64 years old—spent a summer bicycling across the country to raise money for PKU research. The trip brought in $175,000 alone (more donations rolled in six months later, when the New York Times profiled Michaux under the headline “A Venture Capitalist for a Cause”). Norway was an intuitive pick to organize a large-scale fundraising effort around given that this year marks the 85th anniversary of PKU’s discovery by Norwegian physician and biochemist Dr. Ivar Asbjørn Følling. To honor the late physician, Reynolds will be skirting the rural Scandinavian farm where Følling lived as part of her journey, and she’ll be joined by his grandson—a physician, just like his famous grandfather—and PKU researchers who will ski with her for different legs of the crossing.

“She has four children, and so much of her life is taking care of them … I did my skiing when I was 56 and I had no responsibilities,” reflects Ginny in awe of her daughter’s trans-Arctic undertaking. “But for her it’s worked out so beautifully, it’s made her so healthy from all the training, and I just think it’s divine.”

Reynolds is most looking forward to her final day, when her family, including Tia, will be on hand to ski the final miles with her as she arrives at the Norwegian coast on February 29, which, not by coincidence, is International Rare Disease Day. The conclusion of her ski trek is also educational—researchers from around the world will be in attendance and will present about the latest developments in PKU research the morning after her epic ski trek across Norway.

“We need funding,” says Reynolds emphatically. “[Dr. Ivar] Følling is really a hero in our community, and I wanted to honor his legacy and to connect with this international community of PKU families that are facing the same challenges that we are.”

Among the faces Reynolds will see as she skates her final miles to the finish are also those of her parents, Ginny and Dick Michaux. Some of Ginny’s companions from her own Arctic expeditions have reached out to Reynolds throughout her training to offer tips and words of encouragement in preparation for her impending adventure. Of course, Ginny knows from experience how taxing her daughter’s nine days on the ice will be, but with a singular cause propelling her forward mile after mile—an ebullient teenager named Tia—she is certain that Reynolds will reach her goal.

Alison’s mother, Ginny Michaux, at the Arctic Ocean in 2000IMAGE: COURTESY GINNY MICHAUX

“I’m just so thrilled for her and excited,” she says. “I know she can do it.”

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