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PWS? 'Orphan disease' turns active toddler's parents into researchers

By Sarah L. Smith
Coastal Observer

Ayden Jane Gulley’s favorite word is “go.”

“She’s a tornado,” her dad, Gary Gulley, said.

The petite brunette with almond-shaped blue eyes is a mainstay at Waccamaw High School sporting events, cheering for her sister Kayla, and brother, Noah.

If she’s not watching them play, she’s in the car with her sister McKenzie, a third-grader at Waccamaw Elementary, on the way to karate practice. Or, she’s at home with her speech and physical therapists, and her mom, Janet.

Although the gamine toddler is active and inquisitive at age 2, she was born limp as a rag doll.

For three months her parents took her from doctor to doctor trying to discover what was causing her hypotonic behavior.

It wasn’t until the Gulleys took her to a geneticist at the Medical University of South Carolina that they learned she had Prader-Willi syndrome, a disorder of the 15th chromosome.

Decreased movement in infants was one symptom. Her stunted growth was another.

The most dangerous part of the syndrome, the Gulleys learned, is that it can cause morbid obesity because it prevents the body from using carbohydrates for energy.

Instead, the carbs become sugar and stored fat.

In addition, the hypothalamus, a region in the brain that controls metabolism and behavior, doesn’t signal individuals with PWS to stop eating. They always think they are hungry.

What surprised the Gulleys more was how little doctors and the medical community knew about PWS. The geneticist at MUSC told Janet to go research the disorder then get back to him.

Online, she discovered the Prader-Willi Foundation, a nonprofit that raises money for research.

Founded by PWS parents in 2003, it has raised $1.3 million.

“This is a challenging task as PWS is classified as an orphan disease, which means that it has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market treatments,” said Lauren Schwartz Roth, president of the foundation.

Janet discovered keeping Ayden Jane’s caloric intake at 50 or 60 percent of a normal child’s diet keeps her gaining weight at a normal rate. She threw away all products in her house with carbohydrates and created a healthy concoction of plain yogurt, egg whites, cinnamon, honey and flax seed for Ayden Jane to eat as a snack or meal substitute.

Nutritional supplements and growth hormone shots are also helping her gain height and muscle mass.

In addition to getting Ayden Jane speech therapy and physical therapy to help her develop the lean muscle mass PWS can hinder, Janet found a geneticist, Dr. Pamela Clark at McLeod Medical Center in Florence.

Janet is also working with Dr. Jennifer Miller at the University of Florida, who is keeping track of Ayden Jane’s progress as part of her PWS research.

But there is still more to do. She and Gary, who are in their mid-40s, don’t want their three older children to have to take care of Ayden Jane after they are gone. They want her to be independent and productive.

The couple went to a Prader-Willi Foundation event in Washington, D.C., last spring and along with other parents and children with PWS, successfully lobbied Congress to create Prader-Willi awareness month in May.

They hope that will encourage more people to donate to the foundation’s research efforts.

“Just $50,000 can fund one research project at a university,” Janet said.

That’s why she’s running in the Myrtle Beach Marathon next month.

“It seems to be a great analogy. It represents the effort and discipline with which Ayden Jane will need to live her life,” Janet said. “Prader-Willi Syndrome will be with her for the long haul. It just seemed like I would be selling her efforts short by running anything less than the longest race out there.”

A runner her whole life, Janet hopes friends, family and community members will hear about her 26-mile challenge and donate to the Prader-Willi Foundation in Ayden Jane’s name.


To learn more about Prader-Willi, or to make a donation, go to FPWR.org. Checks can also be mailed to FPWR, 104 Hume Ave, Alexandria, VA 23301. To follow Ayden Jane’s progress, go to pwsgulley.blogspot.com.

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