A mom's story: "Living with my son's Prader-Willi Syndrome"

Janet Legemaate and her family had already grown accustomed to doctors’ offices and waiting rooms as a result of their eldest son's health complications, so when their second son was born, all they wanted was a normal little boy.

But the Legemaates were destined for a life less ordinary. 

Luke suffers from Prader-Willi Syndrome (PWS), a rare and complicated genetic disorder affecting appetite, growth, metabolism, cognitive function and behaviour, and is the leading genetic cause of life-threatening childhood obesity. For sufferers of PWS, appetite control is impossible.  

"The day we got conclusive evidence  that he had PWS, it broke our hearts, we were devastated but  knew we had to keep going."

One in fifteen thousand people around the world are born with PWS. 

"I can still remember the doctor at his birth saying the child’s not moving – something’s wrong.

When he was born, he showed all the symptoms — a friend suggested checking for Prader-Willi Syndrome. A FISH test was done but came back negative."

Despite the negative result, Janet was convinced Luke had PWS.

At only 2 weeks of age, Luke was started on baby gym, physiotherapy, occupational therapy and speech therapy. 

"Speech therapy was so that I could get him to suckle." 

"PWS affects all muscles of the body even those used in the digestive functioning in the body...the muscles around the mouth, those allowing for the movement of food through the system, the stomach, and the intestines."

After his second birthday, Luke's weight rapidly increased, Janet was convinced that he had PWS.

"Doctors did the methylation test for PWS and it was conclusive."

"It devastated us to know we had a second child with serious medical issues but we quickly worked through this and purposed to help him become the best little boy that he could."

Despite the expected difficulties, Janet says the assistance of her family has been key to coping with the condition. 

"The management of the syndrome for Luke has been made easier because of the support of our parents and my husband."

Even with their support, Janet has been frustrated by the ignorance of others.

"Many people, because of a lack of knowledge of the syndrome, do not understand and see food as the only symptom of the condition.

This in fact simplifies the condition...and has definitely affected our social interaction with others." 

Rare diseases Prader-Willi Syndrome

Still, Janet remains grateful. Luke is now 11 years old, and his progress has been steady. Janet attributes this to a strict routine and ensuring changes are as minimal as possible. 

“Luke is really smart and only has mild behaviour issues considering his diagnosis. He has done well at school. 

Due to muscle issues in his hands we decided that home schooling would be better this year as he could then work on a computer.”

But Janet feels that awareness around the condition in South Africa is totally lacking, especially within the medical community, which not only complicates access to treatment, but also requires Janet and her husband to keep up with medical developments around appropriate treatment. 

"He’s currently on growth hormone therapy....this is expensive and many medical aids in South Africa won't cover it despite it being a world recognised treatment for PWS." 

"We have had to become our child's advocate and learn as much as we can about developments around PWS." 

As a result of their struggles, the Legemaates share a unique bond, and strive every day to make the best of their extraordinary circumstances. 

"We don’t know any different other than to focus on the boys' well-being......as a family we do everything together......it certainly has altered our outlook on life" 

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Can you relate to Janet's story? Do you have a child living with a rare condition? Share your stories by emailing us on chatback@parent24.com and we may publish them. If you'd like to remain anonymous, do let us know.