Dale's story

Dale is 4 years old and will be turning 5 on the 25^th July.  After a long labour, he was born by emergency Caesar at 37 weeks.  The doctors and nurses were concerned immediately after his birth that he was very floppy and had a weak cry.  He was rushed into neo-natal ICU and was there for 2 days before being transferred to the neo-natal ward.  We visited him every day twice a day for a month as he was too weak to suck or cry, and had to be tube fed through his nose.  We were told that he might have spina bifida as he had a sac­ral dimple with a small patch of hair at the bottom of his spine, and that he could have muscular dystrophy, and we wondered if he would ever walk.  He had tests done on him in hospital, but nothing came up. 

With the help of some very good nurses, we taught him to suck from the bottle.  He was fed four hourly as he was too weak to cry.  Dale was discharged one month later.We had more tests done and one of them was for spinal muscular atrophy – the test took three weeks to come back and the waiting was very stressful. The tests however, came back negative.  We took Dale to a paediatrician in PE when he was 5 months old, and she did further testing.  The paediatrician asked us what tests we would like her to do as we had done so much research on the internet trying to get a diagnosis. One of the tests we asked her to do was the Prader-Willi test, as it came up a few times when we typed in the word “floppy” under symptoms.  The Fish test (common deletion type) was done and it came back negative. We were not aware at that time of another PWS test called the Methylation test which detects the rarer type of PWS.  A CT scan was done on him, and we were told that he had generalised cerebral atrophy, and that he could have periventricular leukomalacia.  We were very upset with this news as we read up on the internet that it had something to do with brain damage. 

We took Dale to physiotherapy, and did the therapy at home every day.  Our physiotherapist was positive throughout, and she always encouraged us.   Even though Dale’s milestones were delayed, he was going from strength to strength, and walked at 20 months.  We were happy as he was eating better, but realised he needed intervention at 18 months as he was getting very big.  (He was called “Big boy” for a bit)  We took him to a nutritionist, and she drew up a meal plan for us, and we cut down on his food intake.  Dale also saw an occupational therapist and a speech therapist as he has articulation problems.  He wears glasses to help his strabismus, and he wears inserts in his shoes to help his feet walk straight.  One of the most common questions asked of me, “was there a lot of movement when you were pregnant?”  It was my first pregnancy and didn’t know what to expect. 

We were told that Dale needed a muscle biopsy to rule out any muscular dystrophies and atrophies.  We decided to have this operation done at the same time as he needed an operation for descending his testes. He was 2 years and 7 months when it was done, and it all came back negative much to our relief.Our paediatrician phoned us and told us that a geneticist from Johannesburg is coming to East London, and asked us if we would like to see her.  I told the geneticist that he had the symptoms of PWS, and had chatted to my uncle who is a paediatrician in New Zealand who was baffled because he said Dale had all the symptoms of PWS, but the test had come back negative.  The geneticist said she would like to do the methylation test as they had only performed the fish test, and explained the process to us.  The test came back positive and Dale was diagnosed with PWS at 2 years 10 months.  The news came as a great shock when she phoned to tell us, even though I always had a suspicion.  Nothing prepares you for that kind of news.  On the one hand we were very upset about him having this, and on the other hand we thought at least we know what we are dealing with.  We were very upset about the first test indicating negative for PWS as this put us on the wrong track and did so many unnecessary tests.

My Aunt who is a doctor in Microbiology in Australia works with geneticists in the labs, and she said they do both the methylation test and fish test together.  We wish that this same procedure for all PWS tests could be done in South Africa as this could rule PWS out entirely, and would save people time, expense, and a great deal of stress.   If we had waited just three months, we wouldn’t have had to do the muscle biopsy, and regretted doing it as it has left a huge scar on his arm, as it did not heal properly after the operation.

Dale had growth hormone stimulation tests in Johannesburg in 2010, and he scored 6 out of 10 which is a failure.  We were very apprehensive to start on growth hormone therapy as we were concerned about his sleep apnea.  We wanted sleep studies done prior to starting growth hormone, and tried three tests, all of which failed as Dale would pull the wires out of his nose.  We went to Cape Town end of last year and saw a paediatric endocrinologist who is now managing Dale.   Dale started on growth hormone therapy, and has currently been taking it for one week.  We are very grateful for the support of our family GP who has been wonderful in helping us.

Dale attends a pre-school with his carer Linda.  He is very happy there, and has improved and grown in confidence.  He struggles with fine motor skills, and gets frustrated when he can’t do something.  His teacher – Aunty Sally has been very supportive, understanding and accommodating.  

Dale brings joy to our lives every day.   He loves to be outside, and he enjoys running, swimming, gardening, bicycles, motor bikes (real ones!) and his pets.  He is a very determined little boy, and always concerned about others.  His favourite toy’s, are his vacuum-cleaner, lawn mower, Teddy and weed-eater. 
 

We are grateful to have good support from the family.  My Mom has been a rock for always listening, words of advice, encouragement and being positive. We appreciate that  Paula, my sister showed her support for PWS and had T- shirts made for her and the kids with “I love somebody with PWS” and encouraged us to do same, and make people aware of PWS.  Jane, my sister-in-law in Australia has been great with her advice and words of encouragement via e-mail and phone calls.  

Dale has always thrived when he has been around his cousins in the way they teach him things, and stimulate him.  It always amazes us how much he learns from them when he has been with them.  We are also thankful to them for always helping and protecting him, and we know it is very difficult, but appreciate that everybody tries so hard not to snack in front of him.

Dale has taught us so much, and we have learned to appreciate the little things in life.  We have also learnt to take one day at a time.