Written in 2005
(clearing out files, found this...and wondered who had written it)
At the end of this year, I found myself looking back over
the last 22 and mentally totting up the cost of having a child born with a
syndrome. Not the financial cost, the
emotional cost. In this particular case,
our youngest daughter was born with Prader-Willi Syndrome 22 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 1972 not much had changed in the
scientific understanding since PWS was first identified in 1957.
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 a lot at Bellamy’s. 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 his 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 the 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, 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 19 years ago and the beginning of what is today the
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 know way 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, a greater understanding of what they need to make
their lives rewarding and fulfilling.
There was the breakthrough in October 2006 after battling
with Pharmac for years, that the Association finally gained recognition in
having PWS accepted as a separate category for Growth Hormone Treatment. And, in spite of ridiculously stringent criteria,
a few children are now undergoing treatment with stunning results. This treatment must be recognised as the best
medical treatment we have for children now, and those yet to be born, in giving
them a chance of a more normal life.
At what cost? I look
back over 22 years at the struggle to have my daughter even diagnosed, let
alone find support. We’ve just come
through Christmas, a period of time when family and friends come together to
eat, drink, be merry, relax and enjoy time together. For our family, 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 others 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, tears,
guilt, heartache and despair. Then
there’s all the stress, strife, arguments and self-pity. That’s the cost, and you pay for it with
guilt, tears, and love.
“Hello,” he said, “I’m Danny.” I’d seen him as I’d walked into the store and
noticed him looking at me, but not taken too much notice. People often look at me when I’m out with my
daughter. When she was very young, it
was her copper-coloured hair that attracted people. Later, it was her behaviour that drew
attention and her insistent demands for whatever she decided she wanted, and
wasn’t allowed. Nowadays it’s because of
her size. I hate to admit it, but her
weight has gone out of control this year and I’m panicking. 
