My name is Jennifer, and my sweet, loving, friendly 8 year old son Nolan, was diagnosed shortly after birth with Prader-Willi Syndrome (PWS), a rare, non-inherited chromosomal disorder affecting approximately 1:15,000 individuals worldwide. PWS is characterized by low tone, behavioral disturbances, cognitive challenges, a variety of health issues, and a dysfunctional hypothalamus that results, among other things, in an inability to feel full no matter how much the person eats. This lack of satiety causes a constant and relentless feeling of hunger and food seeking.
If left unattended, Nolan could keep eating until his stomach bursts. His brain can not register that his stomach is full. Ironically, people with PWS also have very low metabolisms so they must live on a diet that is approximately 1/2 the calories of an individual without PWS. Nolan is only allowed 700-800 calories per day. We have locks on the cabinets, refrigerator, pantry and other rooms such as the bathroom, since he also will consume non-food items in his quest for fullness.
Like many other families who are thrust into the world of rare disorders, we had never heard of PWS before Nolan was born. The geneticist explained how Nolan has a deletion on the paternal number 15 chromosome, for which there currently is no cure or effective treatment, and a whole new world opened up to us.
It has been a world of pain, sadness and difficulty at times, filled with therapies, medications, medical procedures and doctor visits, but it also has been a world of new friendships, love, kindness from strangers, and celebrations of every small milestone in a way that we otherwise may have taken for granted if Nolan had not been born with PWS.
Our hearts and support go out to all families who have a loved one with a rare disorder. We are so thankful that organizations such as the Global Genes Project that exist to help our children live life to its fullest. Sending love and very best wishes to all.
For more information about Prader-Willi Syndrome, visit the Prader-Willi Syndrome Association.