By: Sherita Greer, Special Events and Volunteer Specialist, Penfield Children’s Center
As the parents of a child diagnosed with Prader-Willi syndrome (PWS), my spouse and I quickly became extremely knowledgeable in PWS management.
Our son, herein referred to as Q, was born full term, during the spring of 2007. Given that he was our first child, we were filled with varying emotions. One of them being confusion and a quest for understanding of his medical wellbeing. We worked closely with Q’s medical team and would later learn that the initial signs of our son’s PWS diagnosis were prevelant shortly after I gave birth to him. Some of these signs included low birth weight for gestational age, low muscle tone, poor latch and excessive sleepiness.
When Q arrived home from the hospital he weighed 5lbs 6oz.; we found out during a home nurse visit a few days later that his weight had dropped to 5lbs, 1oz. Needless to say we were heading in the wrong direction. Based upon the nurse’s recommendation, we took Q into the hospital, where after several weeks of monitoring in the Neonatal Intensive Care Unit (NICU), he was diagnosed with “failure to thrive”. The physician recommended a gastrointestinal feeding tube (G-tube) be placed in his abdomen for an undetermined period of time. As a first time mom, one could imagine, this was all overwhelming for me. Nonetheless, we quickly absorbed the news, the G-tube was placed and we headed home, where we cared for Q for the next several weeks, until it was time to return to work.
Upon my return to work, we placed Q at Penfield Children’s Center in Milwaukee, for daytime care, as we trusted that the nursing staff and team of elite professionals would provide top quality care for our medically complex child. Nonetheless, the team of experts far exceeded my expectations. In addition to providing expert care, they were an integral part of our support network when, after several genetic tests, our son received a diagnosis of Prader Willi Syndrome (PWS) at 6 months old.
What is Prader-Willi syndrome?
Prader-Willi Syndrome (PWS) is a genetic disorder that causes physical, behavioral and mental health problems for the person affected. Unlike our diagnosis, most parents find out their child has the disorder after their child turns two and complains of constant hunger, even if he has just eaten a full meal. PWS cannot be cured and also cannot be prevented before the child is born. According to the Prader-Willi Syndrome Association, “…the occurrence of PWS is due to the lack of several genes on one of an individual’s two chromosome 15’s – the one normally contributed by the father. In the majority of cases, there is a deletion – the critical genes are somehow lost from the chromosome. In some of the remaining cases, the entire chromosome from the father is missing and there are instead two chromosome 15’s from the mother.” Most of the time, PWS is caused by a genetic error and is not inherited from a parent. Genetic counselors can help find the genetic defect that caused PWS.
For children with PWS, the defect on chromosome 15 causes the hypothalamus to become disrupted, thus causing problems with the child’s hunger, moods, growth and more.
What are the symptoms of Prader-Willi syndrome?
Infants with PWS often have poor muscle tone, difficulty sucking and certain facial features including almond-shaped eyes, a thin upper lip and a mouth that turns downward. As children get older and enter into early childhood, they begin to constantly crave all food. You might be surprised that a child with PWS will eat just about anything and everything- fruits, vegetables, frozen foods, meats, regardless of taste and texture. Many children with PWS also develop cognitive impairments such as intellectual disabilities, problems reasoning and making positive decisions and learning challenges. The Mayo Clinic also lists poor growth and physical development as common issues because of the underproduction of growth hormone in the body. In addition, children with PWS might experience speech and sleep disorders, as well as scoliosis and delayed motor skill development.
A common concern with children who have PWS is obesity as food quickly becomes the focus of the child’s life. For my own son, I’ve developed a plan to manage his weight and empower him to make healthy decisions, even when the urge to overeat takes over. I’ve found that keeping him on a regular eating schedule, labeling foods such as fruits and vegetables, green (eat as much as you want), foods such as popcorn and potatoes, yellow (eat some) and fried foods and desserts, red (eat sparingly) and making sure I work with his classroom aide and teacher have really helped keep him on track and at a stable, healthy weight. I’ve also found a handful of physical activities that he loves and use them as rewards when he does well in school. For example, after a good report from the teacher, I treated him to an extra swim day at our local YMCA. This was a great way to get him moving and also positively reinforce his good behavior.
Finding support for families affected by Prader-Willi syndrome
One of the best decisions my husband and I made as parents of a child with PWS was to form a support team. We’ve enlisted the help of our son’s teachers, after-school staff, neighbors, family members, medical team and our local PWS chapter (pwsaofwi.org). He also enjoys attending camp with other children who have a variety of abilities and we have received the best advice from other parents who have children with PWS and we have been able to offer suggestions as well.
PWS can bring significant challenges, but we work through them as a family. Each day, our son brings joy to our lives in more ways then we would have ever imagined. We are so proud of all he has accomplished and his endless quest for knowledge. He has never let PWS define him and it’s amazing to watch him develop into a smart, talented young man; we’re excited to see what his future holds.
Do you know a child with Prader-Willi syndrome?