Mom on a Mission: Skiing for PKU Awareness

By Danielle Bradshaw from In The Cloud Copy

There are not too many things that a mother won’t do for her child, and Alison Reynolds is the perfect example of the strength of a parent’s love.

Alison’s most recent show of motherly affection involved carting tires weighing 80 pounds across the C&O Canal towpath to bring much-needed attention to the rare disease phenylketonuria, which her daughter Tia suffers from.

What is Phenylketonuria?

17-year-old Tia Piziali has phenylketonuria (PKU), which is a disorder that causes the amino acid phenylalanine to accumulate inside of a person’s body, due to the non-functionality of the specific gene needed to break down this particular acid.

Because phenylalanine is found mostly in foods that have protein and aspartame (an artificial sweetener), anything containing these two substances is hazardous to people who have PKU. If patients with PKU consume any protein or aspartame, then they’ll begin experiencing numerous health problems. Atopic dermatitis (eczema), loss of skin color, seizures, and brain damage are just a few of the symptoms that people with this disease encounter.

Alison and Tia’s Experiences with PKU

Hauling tires is just one among many things that Reynolds has done to raise awareness for her daughter’s illness. The mother of four said that her friends and family think that what she does is strange but still cool.

When asking about Tia’s perspective on how PKU affects her, she said that she has wrestled with it for so long that meals became something of a nightmare and that lunch with her friends was particularly hard.

Because most foods are dangerous for her to eat, Tia has to use a combination of medical formula and a strict vegetable diet for nourishment. If she ever strayed from that diet, she could start suffering from PKU health-related complications. Tia continued by saying that keeping to her diet was incredibly hard and that she often had the urge to try other things.

Reynolds mentions that ensuring Tia stayed in good health took time and money. She said that getting the formula her daughter needed was costly due to the $140 per day price tag. Once they’d gotten it, it needed to be weighed and measured into the proper dosages. Then there was actually having to cook Tia’s meals, which took about three hours a day each day.

Alison Reynolds’s Fundraising Efforts

Reynolds has raised a collective amount of $7 million from all of the fundraisers that she’s held over the years and in 2018, her efforts paid off as the FDA-approved drug Palynziq was made. Palynziq gives people with PKU the opportunity to eat foods that were once seemingly poisonous to them.

Tia said that “I started with pasta, then pizza, then mac and cheese.” She eventually was able to try more and more different kinds of food until she discovered her new favorite, bacon. She said that she eats it pretty much every day.

Her family basically paid for the creation of the drug that she and other PKU patients are now able to take, but there is so much more that they want to do to raise awareness about the disease. It took a bit of doing, but Reynolds found the perfect way to inform the world about PKU.

The Ski Trip

The man who discovered PKU, a Norwegian biochemist named Ivar Asbjørn Følling, absolutely adored skiing. Reynolds figured that the best way to pay homage to Dr. Følling and to tell people about this rare disease was to do something that its discoverer loved.

So, to honor Dr. Følling, Reynolds and her guide Elise Koren started a ski trip on February 20 across a frozen section of Norway just below the Arctic Circle that they completed over the course of nine days. The entire trip involved walking or skiing 9-10 miles through the snow, dragging everything they’d need for the journey on an 80-pound sled.

To complete the trip, Reynolds started a training regimen comparable to that of a professional athlete. The workout was rigorous and she performed it every day until it was time for her to travel across the snowy Norwegian expanse. Before embarking on the trek, Alison told her daughter that while the trip would be tough, it couldn’t compare to how much effort it took her to stay on her 17-year diet.

Alison successfully finished her trip through Norway on February 29, which was International Rare Disease Day. Tia and the rest of their family met up with Alison to ski the final part of the trip together.

Check out the source article here.

 


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