The geneticist tested for Angelman Syndrome. Joshua had flapped his arms in a consultation and this had flagged up the possibility of this strangely name disorder.
Two months later, Josh was diagnosed. Previously known as ‘happy puppet syndrome’, few of the features of Angelman Syndrome were evident in him. Questions were raised by clinicians as to the accuracy of their testing. A retest was ordered. The result was the same.
In the absence of the internet, we were handed sheets of information and a phone number for support. It seemed that Josh’s chromosomes were more unusual than most cases and advice was woolly and vague.
I ventured to ask what this syndrome was comparable to. Would his ability be like that of a Down’s Syndrome child? I needed to know how normal a life he would live, not what he would be unable to do. On a scale of disability, Josh was down near the bottom. “However,” the kind Geneticist said, “don’t limit him by this diagnosis. Josh will do his own thing and achieve things you may never expect of him”.
We took our son home. Life shut down and the rest of the world was a stranger. The smile on his face and his happy demeanour didn’t penetrate the sadness that we felt. The fact that he was such a happy boy felt cruelly ironic. ‘At least he’s happy’ were words spoken too regularly by well meaning people. Despite his smile, our world had collapsed.
Flower in the Rain 