May is PWS Awareness Month around the world, and recently I found myself looking back over the last 34 and mentally totting up the cost of having a child born with a syndrome. Not the financial cost: the emotional cost, and the cost of awareness. In this particular case, our youngest daughter was born with Prader-Willi Syndrome 34 years ago when no one really knew anything about it, much less be able to tell me the cost it would incur to our family. Had I known even then, I wouldn’t have been able to do much anyhow. In 1984 not much had changed in the scientific understanding since PWS was first identified in 1956.
I was brought up in the Baby-boomer years, the tail-end of a time when doctors were still Gods, when politicians were benign, rather helpful people who talked a lot in Parliament and ate and drank a lot at the local watering hole. There was a general acceptance that we had the best health system in the world and were leaders in looking after the poor and needy. Most of us grew up still thinking that.
As first children born to parents who had endured the war years, we wanted for nothing. Visits from Plunket nurses, school milk, free education. Growing up in the 50s, I remember long summer holidays, listening to favourite radio programmes, playing in the streets and the parks til dusk, walking to and from school, safe in the knowledge that nothing and no one would harm us. It was a formative childhood about to take a huge tumble into adulthood.
Along came the Muldoon years – the Muldoon* family lived just down the street from us and my father would tip his hat to Muldoon (“Mister Muldoon, from you!”) if ever he saw the Government car coming down the road. He approved of women in Parliament, only if they knew their place, so he heartily disapproved of Marilyn Waring**. Approval of the Vietnam War was a priority in our household and woe betide any teenage daughter who dared venture a contrary opinion. Women’s Lib mystified him. What was the point? My father was the head of the household and such was the hierarchical system that what he said, went. Whoever was at the top of whatever system, therefore, must be right, so years later after my father had died and when my daughter was born with Prader-Willi Syndrome, my expectation was that whoever was in charge would know all the answers.
They didn’t. Tests in hospital, mutterings from groups of doctors on their rounds, hastily scrawled notes hidden from my view, and no answers. Apart from a nurse whose arrogance led her to speculate that my baby probably had brain damage. My world was shattered. Not just the emotional collapse of having a child with an unidentified syndrome, but my faith in the hierarchical system that my father led me to believe was infallible, was shattered.
Thus began the long haul to adulthood. Three years of listening to doctors make vague assumptions about my child’s condition and coming up with nothing substantial finally led me to an article in an Australian Woman’s Weekly magazine. There was a picture of a young man with Prader-Willi Syndrome and a photo of him as a baby. It was a very real Damascus experience, and, armed with the article, I went to see the Professor of Paediatrics at Wellington Hospital. He diagnosed me as an “over-anxious mother” and sent a letter to my own GP stating as much. By this time, I knew I was right and I knew with my whole being that this was the answer. Smashing at the doors of hierarchy I demanded a second opinion. My three year old daughter was duly considered by another specialist who gave her blocks to play with, crayons to draw with, and concluded that she was “delayed”. Coincidentally, as she ushered me to the door, she pointed to a young girl about 8 years old and said, “now, that girl has Prader-Willi syndrome, you don’t think your daughter has anything like that do you?”
Why on earth couldn’t she see what I could see? For me, it was like looking down a telescope of years into the future. It was the start of a long search, and, bearing in mind this was pre-Google days when everything had to go by post, it was a lengthy process. Everyone who came in contact with my daughter – speech therapists, physiotherapists, doctors, specialists – were all taken to task by her over-anxious mother. The breakthrough came when I burst into tears, banged the table and yelled my frustration to an occupational therapist that no one ever listened, that she looked quietly at me and said, “I have a child with Down’s Syndrome, I do understand. I will find an address in America of the PW Association for you.” And she did. I am still in her debt.
Little by little I began to piece things together. It required patience and an understanding of things medical and scientific that were way beyond me. I read everything with a medical dictionary beside me. I made lists. I compared characteristics. I ended up at the IHC (major service provider), in tears again, asking why no one knew what Prader-Willi Syndrome was, for by now I was very certain this was the diagnosis. I was listened to and given, not sympathy, but tools to work with: names of parents (this was pre the Privacy Act, when contacts were easier to come by), a small amount of funding to set up a support group, and more importantly, some confidence to work with. Their support over the years has been generous, willing, and very enabling.
That was 29 years ago and the beginning of what now is the New Zealand Prader-Willi Syndrome Association; a very pro-active, knowledgeable, and keenly aware group of parents who are prepared to fight for the rights of their children. They now know far more than I ever did, the diagnosis of their babies is made not through the pages of a weekly magazine, but quickly and accurately through the microscopic thread of DNA. They do not have to search the world for information, support, and a handbook of What To Do; it has all been done by others before them. The increase of scientific knowledge has been extremely rapid: the discovery of a small deletion on 15th chromosome which is the cause of PWS and is also linked to obesity (now giving scientists and drug companies a huge incentive to find a ‘cure’); the discovery that growth hormone treatment will vastly improve the physical ability and body composition of a child; a far greater tolerance of people with disabilities, and a greater understanding of what is needed to make their lives rewarding and fulfilling.
At what cost? I look back over 34 years at the early struggle to have my daughter even diagnosed, let alone find support; so far we've managed to get through every Christmas, Easter, birthdays - times when family and friends come together to eat, drink, be merry, relax and enjoy the good times - but for us, and other families where there's a child with PWS, it’s a time of watchfulness, of making sure cupboards, refrigerators, pantries, are locked and secured. Of locking the drinks cabinet, of hiding wallets, purses, and loose change. Of trying to persuade people not to give chocolates, cakes, and sweets as gifts. It’s a time of stress for all.
The cost to any family is enormous. The sacrifices, sibling embarrassment, heartache, despair and all the "if only's". Then there’s all the stress, strife, arguments and self-pity. That’s the price, and you pay for it with guilt, tears, and love. We owe a great deal to those who went before us, and we are ready to help and support those who come after us. It's a different road we take, but it is one of much more awareness these days.
The month of May is PWS Awareness Month
*Rob Muldoon, Prime Minister of New Zealand 1975 to 1984
** Youngest female MP and staunch Women's Liberation advocate