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Eary diagnosis would have a made a huge difference -Aiden Forbes #Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a genetic disorder that is often misdiagnosed.Despite the fact that the incidence of PWS is 1 in 15,000 which is not too uncommon compared to other rare diseases it is not always diagnosed. We recently started a chat group for families in SA and it was interesting to see how many of the children were only diagnosed well past their baby years. There are probably also many who do not have a diagnoses and wondering what is up with their child. It is a spectrum disorder so although low muscle tone and delayed development are indicators of #PWS some children are not very delayed at all so it is harder to identify. Often these children are only diagnosed when they are older and start over eating, if they are diagnosed at all.

This picture is of Aiden who was finally diagnosed at the age of 8. By this stage his family were desperate for some direction and help with their son. He is almost 10 now and has lost 10kg in the last year. Although he had delayed development, the complications at birth were the reason given. Here is her story:When Aiden was born, understandably his doctors’ focus was mainly on his Bochdalek Hernia and the fact that he was born with one lung. He had to be ventilated for 88 days and remained on oxygen for 9 months ….when I asked why he was so floppy they said his low muscle tone was due to his lengthy stay in ICU and restricted movement due to being on the ventilator. When I asked why he never cried or babbled they said it was because of the ventilator ….I accepted these answers. I trusted my doctors.

Then the weight explosion happened from about 3 years old and he started stealing

food – Dr’s and the dietitians I consulted said that I fed him too much and his weight gain was because of his low muscle tone which resulted in him not running around like other kids his age and burning up calories….. they never said it but it was obvious.

I was to blame for my child’s obesity.I stopped visiting friends because of his obsession with food and frequent melt-downs and the fact that he was so over-weight. I was embarrassed by Aiden and found myself constantly making excuses for his obesity. I was desperate and tried to limit his food intake as much as possible.

Eventually a retired teacher from a Special Needs school told me about a doctor who might be able to help. She said he liked to get to the bottom of a problem. The doctor was a Geneticist and on our first visit, clinically diagnosed Aiden with PWS. He was

8 years old. My first reaction was total rage. For 5 years, I had carried the blame for my son’s obesity. For 5 years I had judged and disciplined my child for stealing food and he was just HUNGRY.Why had the doctors just dismissed me?Why had they not believed me when I told them I did not over feed my child? If they had only given me the benefit of doubt and referred Aiden for testing. The PWS signs were all there.

I have tried to find out everything I can about PWS to equip me to help my child. Once I got over my anger (and for the most part I have) I focused my energy on helping Aiden. He is doing well and I am so proud of him.The right diagnosis meant I could stop assigning blame and start providing the support that my child needs. For me that took 8 years. We need to increase PWS awareness- earlier diagnosis for Aiden would have a made a huge difference for him and me!Thanks to Cheryl for sharing her story with us.

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