A Family’s Fight for A Cure
Sawyer, a 9-year-old from Bowling Green, Kentucky, is a joyful, silly, extroverted kid who enjoys meeting new friends. “Sawyer loves his people, and he loves them fiercely,” his mom, Katie shares. “I’m constantly in awe of his strength.”
A Life-altering Diagnosis
When he was still a toddler, Sawyer began demonstrating concerning health issues. He had a seizure when he was 18 months old. Then, when he was about 2, he started having trouble with balance. By age 3, Sawyer began curling his toes under and sometimes walked with an unusual gait.
Katie and her husband, Taylor, had Sawyer evaluated by multiple specialists who eventually suggested he wear leg braces.
Things got worse when Sawyer was 4. He became sick with the flu and lost all energy. After a few days, he stopped walking altogether. Terrified, Katie and Taylor took Sawyer to a neurologist.
When the neurologist suggested they wait and see how Sawyer does for the next year, Katie, a registered nurse, insisted on genetic testing.
After four years of uncertainty, Katie and Taylor finally had some clarity, albeit devastating. Genetic testing revealed that Sawyer has TFP, trifunctional protein deficiency, a rare, life-limiting fatty acid oxidation disorder (FAOD) that prevents the body from converting certain fats to energy, particularly during periods of fasting or illness. TFP can lead to
serious problems, including low blood sugar, muscle weakness, and heart or liver issues.
Determined to Make a Difference
After extensive research, the family discovered that UPMC Children’s physician-researcher Jerry Vockley, MD, PhD, is a leading expert on FAODs like TFP. Taylor called UPMC Children’s, and Sawyer had an appointment two weeks later.
Sawyer had a full workup at UPMC Children’s in Pittsburgh and was placed on Dojolvi, a tasteless oil Dr. Vockley and his team developed to treat FAODs.
It was during this initial meeting with Dr. Vockley that Katie and Taylor learned about Dr. Vockley’s commitment to translational FAOD research. He explained that more needs to be done to improve care for kids with disorders of energy metabolism like TFP, but that a lack of funding remains a consistent barrier to research progress.
Katie and Taylor returned to Bowling Green, determined to find a way to support Dr. Vockley’s scientific pursuits.
Racing for Research
Shortly thereafter, Sawyer’s Race for Research was born. Designed as a small event to raise funds for Dr. Vockley’s lab efforts, the 5K was supported by local college students and about 50 runners. Five years later, Sawyer’s Race for Research is a certified nonprofit that has raised $425,000 to date for TFP research!
The family has done additional fundraising, as well. They started a golf event called Tee Off for TFP and are working to create a pickleball tournament.
Katie explains that none of it would be possible without their amazing community of supporters. “We’re so thankful for our family and friends, our church, and all of our neighbors here in Bowling Green,” Katie shares. “The whole community has rallied behind Sawyer.”
Focused on a Cure
Today, Sawyer is 9 years old. He sees Dr. Vockley twice a year and takes Dojolvi several times per day. He no longer wears leg braces, and his heart remains perfectly healthy. “The Dojolvi has been a lifeline,” Katie says. “We
had to evacuate the house once for a tornado. I grabbed my purse and the Dojolvi!”
Yet, even with the Dojolvi treatment, Sawyer continues to struggle with his energy. He gets sick easily and needs to be cautious about avoiding a metabolic crisis that could land him in the hospital.
So, for now, Sawyer’s family and his community remain focused on a cure. And Sawyer remains resilient. “That child is a ray of sunshine. He takes all of this on with such grace,” Katie says. “Despite everything he’s been through, Sawyer cares deeply about others. And they, in turn, care deeply for him. Truly, we are blessed.”
Learn more about how research gifts to UPMC Children’s can make a difference for kids like Sawyer.