A rare genetic disorder slowly ignited Blaide Woodburn’s passion for science.
Woodburn, a 23-year-old Zanesville native, has phenylketonuria, a disorder that causes the amino acid phenylalanine to build up in the body. The disease is caused by a flaw in the gene that makes the enzyme needed to break down the amino acid, which can build to dangerous levels if the person eats protein or aspartame, an artificial sweetener. Woodburn must stick to a strict diet.
But instead of dwelling on the limitations, Woodburn has thrived because of them.
He is a second-year doctoral candidate in pharmacology at the University of North Carolina-Chapel Hill and hopes to one day work with pharmaceutical companies as a life science consultant. In 2017, he earned a degree in molecular biology at Eckerd College in St. Petersburg, Florida.
“Wanting to understand what happens in my body developed into an interest in science,” Woodburn said.
Woodburn recently was awarded a $5,000 RARE Scholars scholarship for students who have been diagnosed with one of three rare diseases: mucopolysaccharidoses (MPS) disease, phenylketonuria or Batten disease. The scholarship comes from BioMarin Pharmaceutical Inc., a global biotechnology company, and is awarded to students who plan to enroll in college or vocational-technical school.
“These are remarkable people who have overcome a lot of obstacles because of these rare diseases,” said Debra Charlesworth, a BioMarin spokeswoman. “By supporting these young people, we can play a small part of making the world a better place.”
This is the second year of the annual scholarship, and BioMarin awarded four $5,000 scholarships this year, she said.
People with phenylketonuria must adhere to a strict diet of no meat or dairy products and only limited amounts of beans, potatoes and corn, said Dr. Kim McBride, chief of genetic and genomic medicine at Nationwide Children’s Hospital.
“My diet is primarily a vegetarian diet as far as the food I eat is concerned,” Woodburn said, adding that he does drink phenylalanine-free protein shakes.
He eats pretty much the same foods every day and typically drinks two protein shakes and eats a phenylalanine-free protein bar each day. He starts his day off with half a cup of oatmeal, a scoop of peanut butter and one of his protein shakes. For lunch, he eats a veggie burger, a cup of rice and vegetables such as broccoli, asparagus, butternut squash and sweet potatoes. He ends his day with a veggie burger, rice, pasta and vegetables for dinner.
“It’s hard, but if you are really strictly adhering to your diet, you can generally live fairly well,” McBride said. “If phenylalanine levels go up, and this happens quite commonly in people who are adults who have this disease, the phenylalanine will cause a lot of fogginess, and they just aren’t able to think very well.”
The fogginess can cause people to struggle with anxiety, depression and social phobia, McBride said.
“The average adult with PKU has an average IQ score of 10 to 20 points lower than the average adult because a lot of patients with PKU just discontinue the diet for a multitude of different reasons,” Woodburn said.
Phenylketonuria is found through screening tests of newborns, and the disorder afflicts one in 10,000 people, McBride said.
“If you continued to eat protein and have very high levels of phenylalanine in your blood, it’s very toxic to the brain, and you can develop intellectual disabilities,” he said.
Woodburn’s parents taught him as he grew up to not use his disease as an excuse. Although it was difficult for him to build muscle, he power-lifts weights regularly and played rugby in college.
“It was just something I lived with, and I never really saw it as a barrier,” Woodburn said. “Even more so now, I look at it as a blessing, and that allowed me to engage what I was eating.”