Junior Sarah Shillcutt of Jacksonville is featured in the Sept. 12 edition of The Sentinel-Record.
By Jenn Ballard
The Sentinel-Record
Arkansas School for Mathematics, Sciences and the Arts junior Sarah Shillcutt, 15, has been adjusting to her first few weeks at the school.
Shillcutt, of Jacksonville, said she enjoys reading and hopes to become a marine mammal trainer at SeaWorld in San Antonio, but has always had to watch what she eats, due to having been diagnosed with phenylketonuria when she was 10 days old.
PKU, as it is more well known, limits the amount of protein Shillcutt is able to digest.
“She was diagnosed through the newborn screening, which is mandated by law in Arkansas,” her mother, Holly Johnson, said Friday. “She has been followed by Arkansas Children’s Hospital her entire life in their genetics department.”
Johnson said the disorder is an autosomal recessive disorder, meaning that the recessive gene was received from both parents.
“She had a 25 percent chance of having the disorder when she was conceived,” her mother said, adding about two people each year are born with PKU and about 50 to 60 individuals in the state have it.
“The way it works is her body can’t make an enzyme, phenylalanine (phe), it needs to break down one of the amino acids in protein,” she said. “If she’s on a regular diet as a baby with formula and foods, that amino acid builds up in her blood and would become a neurotoxin.
“When it becomes a neurotoxin, it causes permanent brain damage, severe mental retardation, seizures and eczema,” she said, adding that due to her daughter being diagnosed early on, they have been able to properly manage her diet.
Johnson said her daughter’s diet consisted of a metabolic formula, which was her primary source of protein and cost $80 a can. One can would last four days. From foods, she is allowed a measured amount of phe per day, and because of this, she has to constantly watch her diet.
“Most of her diet consists of medically modified low protein foods or foods that are naturally low in protein,” Johnson said, adding that her daughter doesn’t eat meat, beans, nuts and limited amounts of wheat and dairy products.
Johnson said her daughter keeps a food diary of everything she eats to try to regulate her diet.
“It’s not a food allergy, so if she ate a hot dog right now, she’s not going to fall on the floor,” she said, adding that when her daughter was younger, that is how they would describe it to others.
“When I was younger, it was hard trying to explain it to kids in elementary school because it’s hard for us to understand exactly what it is,” Shillcut said. “I’d tell kids it was a food allergy because they get that.”
About three years ago, Johnson said her daughter began taking Kuvan, created by BioMarin, which “is the only medication that has ever been created to treat PKU.”
“It’s a substance called BH4, and it’s basically a substance that’s like an enzyme booster,” she said, adding it allows her daughter to ingest 26 grams of protein, compared to when she previously was allotted 12 grams.
She said her daughter’s diet used to be limited to medical-low protein foods, which cost about 10 times more than regular food, but now can eat “regular bread, regular pasta, not a whole lot, but she can have a slice of pizza.”
“It makes it a lot easier when going out to eat and her being at school here,” she said, adding cafeteria staff have been supportive and accommodating to her daughter’s diet.
Johnson said her daughter was the first person in the state to respond to the medicine, of which she takes 12 pills a day at $29 a pill. She began touring around the country as part of BioMarin’s Patient Speakers Bureau with others who responded to the medication.
“The BH4 is like a water-soluble vitamin, so you can’t really take too much of it,” Johnson said. “Your body will just get rid of what it doesn’t need.”
Shillcutt gives lectures at the University of Arkansas of Medical Sciences to the College of Medicine genetics class about her experiences, including one on Thursday and in March, which her mother began to do when her daughter was two years old.
“We talk about what it’s like day-to-day with a genetic disorder,” Johnson said. “The first time we went, she was this little blonde-haired baby running all over the big lecture hall.”
“Every year, we’ve come back and given this lecture, and as she got older, I stepped back and gave more of it to her, where she would stand up there with a microphone,” she said. “Now, she does the whole thing. I talk about when she was a baby, insurance mandates and legislation.”
Shillcutt said the lecture is now a mandatory lecture, and the students are quizzed over her material.
She said she chose to attend ASMSA because “it’s new and something I haven’t experienced before.”
“As most people around here say, ‘It’s a challenge,’” Shillcutt said.
“I really like it,” she said of ASMSA. “It’s really something. Even though most people say it’s a challenge, most of the time it’s not that it’s harder, it’s just more.”
Johnson said as far as new developments are concerned, the medical community is working on a way Shillcutt will be able to test her own phe levels, similar to a diabetic with blood sugar.
“She has to go to Arkansas Children’s Hospital once a month to have labs drawn,” her mother said. “When she was little, we went every week until she was two years old and then ever other week until she was four.”
Johnson said another development in the works is a PEG-PAL injection, which will allow complete diet freedom for those with PKU.
Shillcutt said she plans to attend the University of Arkansas in Little Rock after graduation to pursue a degree in biology with a minor in psychology.