Lovely Laura

by Cheri Wingo

Lovely Laura, the girl with the beautiful blond “Miss America” hair and giant smile, would hardly be suspect when Pop Tarts came up missing in her 2nd grade classroom. And when snacks began to disappear, the teacher may have wished she could sit a few boys in time out until one of them confessed! No one would believe by looking at Laura’s petite 9 year old body that the cupboards in her home have to be locked tight, as will the refrigerator eventually, but they are. But then who would ever guess that Laura Cassady has Prader-Willi Syndrome (PWS), a congenital neurobehavioral disorder characterized by many things including an insatiable appetite.

This pregnancy felt “different”, her mom Kathy Cassady says. This baby was not as active as her first child had been in utero, and she was eventually born breech. She had almond shaped eyes and a fish shaped mouth and she wasn’t able to nurse and was barely able to suck a bottle. She lost down to 4 lbs. from her 6 lb. 6 oz. birth weight. As a baby, she didn’t cry often, slept much of the time and had to have formula squirted in her mouth for nourishment. It is ironic that the inability to eat as an infant morphs into an insatiable desire for food later in childhood. At 6 months she could not hold her head up and missed many other developmental milestones. She was “floppy” due to low muscle tone - a condition known as “hypotonia”.

Laura was diagnosed with Prader-Willi Syndrome at 4 months of age, after seeking medical advice at Children’s Hospital in Birmingham, Alabama. The geneticist at Children’s Hospital had recently heard a speaker, Dr. Suzanne Cassidy, at a conference detailing PWS. She had casually written the notes about it on a cocktail napkin. From that information, and from her initial consultation with Laura and her parents, Calvin and Kathy, she found herself with what seemed to be her first PWS patient. Given the name of Dr. Cassidy, the Cassady’s visited the Cleveland Clinic in Cleveland, OH, and then a conference on PWS in Minneapolis, MN. The conference led them to Dr. Louise Greenswag, who co-wrote a medical book on PWS. They continue to see Dr. Greensway at The University of Iowa in Iowa City, Iowa, for an ongoing series of evaluations.
The early information gathered by the Cassady’s was mostly negative. Most PWS kids weigh 200 lbs. by age 10-12, are severely mentally retarded and do not live into their 20’s. Before formula was invented, PWS infants starved to death because of their inability to nurse. They have since learned from the PWS Association and from specialists that each case is different and although there are common characteristics, symptoms differ.
In Laura’s case, she is not mentally retarded, but she does have cognitive delays and receives help with math and reading at the elementary school she attends. She reads “pretty” well but still counts on her fingers. The teachers have been accommodative, but Calvin and Kathy worry about the eventuality of her going to Middle School and High School, where she could be taken advantage of. She is not maturing like other 9 year olds, and was picked on riding the bus one day for talking like a baby. Her speech development is an obstacle, but most of her friends at school just ask “what is wrong with her throat?” She did not say Mama until she was 6 years old. Before that, she called her mom “who-who”. Kathy thinks that is because she would always ask Laura “Who loves you?” Her concept of time is still that of a younger child. If a much anticipated trip is planned, her family helps her count the days by how many sleeps are between now and then.

She has low muscle tone, almost “marshmallow” like, which makes her unable to throw up and even affects bowel movements because she can not push adequately enough. Choking is of great concern. She is average height and average weight thanks mostly to the recent treatment of using human growth hormone, considered to be the biggest breakthrough yet in treating PWS. She has to be monitored, because doctors have to make sure that the growth plates are still open while giving children growth hormones. HGH burns fat and helps gain height and build muscle tone, but Laura’s parents deserve most of the credit for having the patience, alertness and discipline to keep Laura from gorging on food.

What the researchers do know is that part of the 15th chromosome is missing or “turned off” in Prader-Willi kids. Over 75% of people suffering from PWS symptoms go undiagnosed. Often the medical community misinterprets or misdiagnoses the early signs of PWS. The lack of muscle tone and poor sucking reflex of PWS babies in early life — telltale signs of the condition — are thought to be due to a brain or spinal condition.
Consequently, the true condition remains obscured for years. There is at least one drug currently in testing. Also, they are studying what brain secretions allow a hibernating bear to go without food for such long periods of time, and why sharks rarely eat. They know that the brain and the stomach do not communicate in PWS patients. They have a low metabolism and an insatiable appetite. Those two things together usually mean obesity. Laura’s parents must see to it that she only eats 1000 calories a day; three 300 calorie meals and snacks of 100 calories or less.

All of this is understandably hard on Laura’s family. Her parents worry about the future. They worry that as she grows older, monitoring her food intake will only become harder. Children want more freedom with age, and freedom is the one thing Laura cannot be trusted with. Her sister, Mary Kathryn, is affected by the family’s ever present focus on food. Friends and relatives can’t treat Laura like other children with Happy Meal outings and ice cream parties. But Laura’s mom continues to count her blessings amid all the daily struggles. She says that she never has to nag this child to clean her plate! And even though policing her every move has made Laura clever and sneaky at times, she is a happy and delightful child. She is in good health and sees her pediatrician and endocrinologist regularly.

Laura Cassady will always be a blessing to those that know her. She has a wonderful support system, her family. She lives in a time when medical research and drugs are being discovered all the time. Her name in Latin means “laurel”. In ancient Rome the leaves of laurel trees were used to create victory garlands for brave conquerors. Most crowning achievements in life aren’t the Super Bowl kind. Most are daily victories won by families like Laura’s. The triumph is in being one of God’s great masterpieces, and then living victoriously with the blemishes that each one of us has.

May is PWS awareness month. Contact PWSAUSA.org. for more information.