Living with Prader-Willi Syndrome
Donna Forster of Upper St. Clair had a normal pregnancy. Her youngest daughter, Rachel, now 20, was a few days late, but everything appeared normal.
But it wasn’t. Shortly after Rachel was born, doctors noticed the baby girl’s limbs seemed a little floppy and they did some testing. Her diagnosis was Prader-Willi Syndrome. She did not learn to walk until she was 2 1/2.
“I thought, what? What was that?” Forster recalled.
Prader-Willi Syndrome is a genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. It affects one in anywhere from 12,000 to 15,000 people and is caused by a genetic error that occurs at or near the time of conception, or if the hypothalamus in the brain is damaged by injury or surgery. It is estimated that 85 people in Allegheny County and 14 people in Washington County have the genetic disorder, according to the 2010 U.S. Census.
It is the same disorder that Pittsburgh Pirates manager Clint Hurdle’s oldest daughter, Maddie, has.
“Early intervention helps,” said Forster, who had Rachel on a growth hormone at age 3. She no longer takes the hormone because it is being produced by her body.
Rachel Forster is a slim, blonde-haired woman who wants to one day work in child care. She spoke about Prader-Willi and how she deals with her disorder during a Sept. 26 program at the Upper St. Clair Township Library. She gave the talk to earn her Gold Award, the highest honor a Girl Scout can achieve.
“I want people to know more about it,” Rachel said. “I am spreading the word.”
Rachel said the biggest problem for her growing up was the chronic hunger. People with Prader-Willi have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety. They always feel hungry and have a continuous urge to eat. What makes it even worse for people with the disorder is that they need less calories because they have less muscles and tend to burn fewer calories.
Donna, a nutritionist in the Upper St. Clair School District, keeps Rachel on an 1,100-calorie diet and encourages her to drink a lot of water to curb her urge to eat. It has worked, but it hasn’t been easy. Rachel said she weighs 127 pounds.
“She has gone through the trash looking for food,” Donna said.
People with Prader-Willi, which affects both males and females of all races, also tend to have obsessive and compulsive behaviors not related to food. This could be repetitive thoughts and verbalizations, hoarding, picking at skin irritations and a strong need for routine. They also easily lose emotional control, ranging from tears, physical aggression and temper tantrums. Donna said Rachel is on medication to control these behaviors.
Despite Rachel’s disorder, Donna and her husband, John, an engineer for the federal government, have given their daughter as normal life as possible. Rachel, who graduated from Upper St. Clair High School, is in an exercise group and does equestrian therapy. The goal is to keep Rachel active, she said.
“She has an aide,” said Donna, who is provided through the Upper St. Clair School District. The aide accompanies Rachel to child care classes at Community College of Allegheny County’s main campus on the North Side. Rachel also helps out in the nursery at Faith Lutheran Church of Upper St. Clair.
“She tires easily and has to be kept on track,” said Donna, who does not know what the future is for her youngest daughter. “But, she will never be able to live on her own because she will eat herself to death.”