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What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a complex, rare genetic disorder. There is no cure. 

It's important to note that nothing the parents of someone with PWS did made their child have PWS. It's just an act of nature, a freak glitch in the formation of the person with PWS genetic makeup. Although PWS is genetic, it is not inherited. The rate of occurrence of PWS is approximately 1:11,000 in Ireland (as per PWSAI National Survey). PWS can be due to deletion (70%), UPD (30%) or the imprinted/translocated type is 1-3%. PWS affects chromosome 15 (15q11-q13).  

A good genetic reference can be found here: PWS genetics

It's also important to note I'm just a parent of one person with PWS. I'm an expert in my child with PWS but that does not mean every child with PWS is the same. Everyone is an individual. It also means I'm not an expert in PWS. However, I've probably read everything that's ever been written about PWS with google sending me daily searches on anything new that is released... is that obsessional or is it prepared and knowledgable... I'll take the latter! 

PWS is a spectrum disorder. A good way to think about is if you line up all the symptoms of PWS, each column would be at a different scale for everyone person with PWS. Some symptoms may not present at all and others can range from mild to moderate to severe. It is impossible to know which symptoms your child might have and what level they might be and things can change over time.  

The main symptom of PWS and the one that makes the headlines is hyperphagia. This mean a person with PWS has an uncontrollable hunger, a drive to eat and never having the feeling of satiety. The hypothalamus in the brain which is responsible for letting us feel full, is faulty in someone with PWS.   Therefore a person with PWS must be consistently supervised in a food environment. The Lodger started showing signs of hyperphagia from age four. 

Hypotonia (low muscle tone) is also a symptom of PWS. This means a child with PWS is delayed in reaching milestones. The Lodger was able to sit unaided at 1 year, crawled at 2 years, walked at 3 years. Low muscle tone also means a person with PWS tires easily and has a slower metabolism. The slower metabolism means a person with PWS can't burn calories as efficiently and therefore can put on weight easily. It also means a person on PWS requires fewer calories, smaller portions and a healthy diet.  Growth hormone treatment (GHT) has many benefits for a person with PWS, increased muscle mass, increased height and improved breathing function. However, GHT is not a cure. 

The hypothalamus is also responsible for temperature control, sleep cycles and is involved in the function of the pituitary gland.  As a result of PWS, the hypothalamus does not preform as it should leading to disturbed sleep cycles. The Lodger wakes very early, ready to start the day but also has day time sleepiness. 

Sleep Apnoea is common in people with PWS. It can be obstructive or central. Sleep Apnoea is the reason The Lodger wears a CPAP mask at night. 

Due to the dysfunction in the hypothalamus, temperature control is affected. A person with PWS needs to be told if it's too hot/cold and often when sick will not have a temperature. The Lodger has never had a high temperature, even when he's been very ill. 

The dysfunction in the hypothalamus also leads to a high pain threshold, and difficulty with emotional awareness and control. Little things can trigger emotional outbursts for The Lodger and he has great difficulty in controlling them. 

Symptoms of PWS also include skin picking, scoliosis, cognitive delays, challenging behaviour and often autistic like features. Hyperphagia and hypotonia are the leading cause of obesity and obesity related diseases (diabetes, heart disease) in people with PWS. However, early intervention, continued therapies (physio, occupational, speech and language) and strict dietary control can lead to a person with PWS living a healthy life. 

Here are some sites I recommend you visit to learn more about PWS. 
Prader Willi Syndrome Association Ireland
Prader Willi Syndrome Association UK
Foundation of Prader Willi Research USA or Foundation of Prader Willi Research Canada
Prader Willi Syndrome Association USA


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