My name is Shea Velestuk. When I was a baby I was floppy and low muscle toned and then I got tested for this rare condition PWS – Prader Willi Syndrome, and it came back negative.
When I moved to Mission, British Columbia I was overweight and we didn’t know why, so we went to the doctor and asked to get my blood test again to see if I have this condition; and at 17 I was diagnosed with PWS.
PWS is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females equally and affects all races and ethnicities. PWS is recognized as a common genetic cause of childhood obesity.
The common characteristics defined include small hands and feet, abnormal growth, small in height, very low lean body mass and early onset childhood obesity. Also muscle tension that makes it hard to stretch muscles and feeling hungry all the time, this creates extreme obesity and intellectual disability.
Symptoms of Prader-Willi syndrome are believed to be caused by part of the brain called the hypothalamus not working properly. The hypothalamus is a small organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and feeling full, temperature and pain regulation, fluid balance, puberty, emotions, and fertility. Doctors are not really sure how the genetic problem with PWS causes the problems with the brain.
In addition to obesity, a variety of other symptoms can be associated with Prader-Willi syndrome. Individuals usually exhibit cognitive challenges with measured IQs ranging from low normal to moderate mental retardation. Those with normal IQs usually have learning disabilities. Other issues may include speech and speaking, short stature, small hands and feet, scoliosis (curved spine), sleep disturbances with excessive daytime sleepiness, undescended testicles in males, high pain threshold, and infertility. Behavioral difficulties may include Obsessive Compulsive Disorder symptoms of skin picking, and difficulty controlling emotions. PWS is a spectrum disorder and symptoms vary in severity and occurrence among individuals.
Infants with PWS are hypotonic or “floppy”, with very low muscle tone. Weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. These infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. As these children grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed. This is called Stage 1 of PWS.
Around age 2 and 6 years old, children with PWS are not able to control how much food they eat each day and their body does not process the food like normal people so they need to be monitored because if left untreated it will lead to morbid obesity and its many complications. This is called Stage 2 of PWS. In Adolescence there is also delayed puberty.
For me and other adults and children it takes a long time for us to lose weight and all the time we sneak food because were never full.
My childhood has been a battle with PWS and I will have this battle for the rest of my life. It’s hard because the fridge and cupboards has to be locked at all times otherwise we can eat ourselves to death because our stomachs do not tell the brain that we are full.
I hope you have been able to learn something about PWS from me sharing my story!
By Shea Velestuk
You can download my PowerPoint slide show on Prader Willi Syndrome here.