Luke’s Story - by Janet Legemaate

Apr 2017


When you are first faced with a diagnosis that means that your child is different, people’s reactions are so very different. We were devastated, scared of the present, and of the future when faced with this entirely unknown situation, but very determined to help Luke as best we could.

I think that the fact that his elder brother, Matthew, also has a rare condition in some way prepared us for what was to come.  The boys are 8 years apart.  At the time of Luke’s birth, Matthew had already had five open heart surgeries, we had spent weeks outside of ICUs, and Matthew had consequential health and educational issues.  Matthew has now been on the transplant waiting list for a heart and bi-lateral lung transplant for six years.

Luke’s early days were spent in the NICU after an emergency Caesar and an initial Apgar of 3/10 and later of 6/10 resulting in concern being raised.

By the time Luke came home, a long list of tests had already been done, all trying to establish why he was “floppy”, non-responsive, failing to suck and in Luke’s case very swollen.  The initial diagnosis after a CT scan was either cerebral palsy or severe brain damaged.  The FISH test for PWS came back negative.  In our ignorance we did not know there are three types of PWS and the FISH test only detects the deletion type. 

We, in consultation with a speech therapist, occupational therapist, physiotherapist and Baby Gym specialist, began 8 therapy sessions a day.  We had also contacted the Institute for Achievement of Human Potential in Philadelphia who advised us that the brain can be “retrained” with stimulation. So stimulate we did, physically, sensory and mentally…. ALL THE TIME.

Although Luke’s milestones were delayed he was walking totally on his own at 16 months and stopped falling regularly at 18 months.  We realized he was picking up weight at about two years and of course, he would eat anything and loved his food.  We thought, yes, he is getting better!  How little we knew. 

Luke was 2 years and 8 months old when we finally got the correct diagnosis of PWS. We cried with frustration, but we already knew in our hearts this was what was wrong.  As a teacher I knew that the earlier intervention is done, the less you have to fix! Growth hormone therapy was started soon after Luke had his tonsils and adenoids out and it has made a significant difference to Luke’s physical and mental development. Of course we researched PWS to death during this time and gained so much input from families with older children with PWS.

Luke swim

An initial attempt at Luke going to play school, was disastrous so Luke was home schooled until we found a suitable Pre-school after moving to Durban. Here we found a pre-school open to being informed about PWS, and Luke was incredibly safe and happy there for 2 years.

After pre-school, Luke attended a small private remedial school from Grade 1 to the end of Grade 4 last year. We have also continued with OT, speech therapy, biokinetics, swimming and horse riding over the years. Luke flourished at school and his academics are sound.  He has however got dysgraphia which makes his writing almost illegible.  I am home schooling him this year so that I can get him working efficiently on a tablet and computer to aid his future learning.

Luke has brought boundless amounts of joy to our lives and also added huge stresses. He is very time orientated which drives us crazy but he also has the greatest sense of humour, is not food seeking and is a very compliant and happy child.  Even going shopping is of little issue as the rule is just “No treats!”

The last 11 years have not always been easy.  They have required a lot of changing of focus, plans, dreams, ways in which we do things and a lot of planning for the future.  We’ve lost friends, made friends, felt isolated, felt frustrated but in the end of it we have a gorgeous 11 year old boy with PWS who has exceeded all expectations and we have no doubt that he will continue to do so.

One thing we are sure of is that we would not be where we are with our boys today without our faith and trust in God to see us though.