Genesis

It all began on a Wednesday, a rather dark and bleak July morning so I've been told. On that day, I came to be the first of my parents’ two children. My sister would follow four and a half years later. Not only was I my parents' firstborn child, I was the first granchild to both sets of grandparents.

I must have come as quite a surprise when I was delivered by Caesarean section. My hips were fused outwards, my arms were fixed to the front with my hands pushed up under my chin, reminiscent of that annoying expression McCauley Culkin made in the Home Alone movies (although I didn't do that silly thing with my mouth). It was not immediately apparent to the obstetrician exactly what my affliction was, but it was evident that I did not look like a normal, healthy baby.

I was flown to Sydney from western New South Wales for specialist treatment and evaluation three days after my birth. My Mother and maternal Grandmother came to be with me a few days later once my Mother recovered from surgery. This was before paternity leavewas the norm, so my Father stayed behind to continue his work as a hospital administrator.

I was given an assisted birth because a late term examination revealed me to be in a breech position, essentially an inverse position to what a baby should be for a normal delivery (i.e., in a bottom-down position). The obstetrician tried to get me to re-position, but I was unable to do so. This is not an uncommon problem and, other than necessitating a Caesarean delivery, didn’t indicate any major foetal complications.

But for a Caesarean delivery, and unknown prior to my birth, my Mother and I would have died during labour because of the fixed, splayed position of both my legs. This abnormality would not have been apparent until it was too late, and by then we would have been past the point of no return. It would have been a horrific way for us both to have expired, more so for my Mother than for me given my infancy. It should be kept in mind too that contemporary medical imaging technologies such as ultrasound and CAT scans were not in widespread use in the mid-1970s and besides being breech, nothing in my Mother's pregnancy gave any hint that I was anything other than a normal baby.

But I wasn't.

After many weeks, first at the Camperdown Children's Hospital and then the Prince of Wales Children's Hospital, being treated by some of the top specialists in their fields in New South Wales (and in some cases Australia), it was not possible for anyone to make a definitive diagnosis of my condition, because it is so rare. 

Thirty six years has past since then, and I still don't know what is wrong with me. I have had every conceivable test done on me - and my parents too - to try and ascertain the etiology of my condition, but it remain unknown, most likely for the rest of my life. I believe it is most likely to be caused by a genetic mutation, even though there are no known similar cases in either side of my family.

What was obvious after my birth, however, was that my primary problem was neurological, that is my muscles did not function properly. The muscles in my limbs and trunk were atrophied, weaker than they should have been and unable to properly develop and grow to a normal size. Fortunately, my internal organs and the muscles around my face appeared normal, although my neck was affected. Secondary to the neurological issues, I had a number of orthopaedic problems primarily in the hips and arms, but also my affecting the feet and hands.

Remembering of course that this was 1975, and although it was fairly obvious early on that I didn't appear to have any mental/cognitive deficits, my parents were advised to put me in a care home, forget about me and move on with their lives and see if they could have a more normal child.

In all honesty, I can see where those who suggested this were coming from to an extent because it was not anticipated that I would live very long and I was not expected to be able to do very much anything beyond, I guess, merely existing. As an example, it was thought that I would never be able to sit up in a chair unsupported, or feed myself, or hold a pen or do any of the things that we do in our daily lives that we don't even think about as we do them, such as brushing teeth, combing hair or picking up the telephone. Much of the technology that people with disabilities use today to assist them with daily living tasks – such as computers, electric toothbrushes and the like – where not available then. Also, because my condition was and remains undiagnosed, there was no yardstick, or a points of comparison, in which to try to predict how my disability would affect me throughout my life.
                                                    
This is not the appropriate place or manner to express my gratitude to my parents for their decision to ignore the advice to put me in an institution, but I have told them many times how appreciative I am that I was given the opportunity to live as normal a life as possible.

I was hospitalised for significant periods, usually in Sydney, during my formative years. In that time I underwent numerous surgical procedures to correct deformities to enable me to gradually increase my range of physical function. I was also regularly hospitalised during the colder months because at a young age I was extremely susceptible to chest infections on account of the underdeveloped musculature of my upper body. I had a number of close calls, where it seemed unlikely that I would survive. I know of one occasion, when I was three or four years old, where my parents were advised to say their goodbyes to me late one evening when I was in intensive care, as I was not expected to live to see the next morning. In that instance, I had been placed in a plaster cast from my armpits to my knees following major hip surgery when I developed acute pneumonia.

There is much about my early years that I do not remember. Other than undergoing painful surgery and torturous physiotherapy, my early childhood was a happy one and no harm came to me other than the interventions that were medically necessary, but the difficulties I have in remembering much of that period I think is the result of some sort of psyche self defence.

I started school at the usual age and, unlike many children with severe physical disabilities at that time in Australia, I was fortunate enough to go to ‘normal’ schools. I credit that as one of the most important factors which influenced my development. Other than what was necessary to assist me perform tasks which I was unable myself to do, I did not receive any special treatment nor did I want any at school. I have tried to retain that approach throughout my life although trying to live as normal a life as possible can have unintended consequences, and I will discuss that at a later time.

What I find pretty amazing is that as I have gotten older, I have progressively looked, for want of a better term, less disabled. More particularly, beginning very late in my teenage years, I began to physically fill out more.

As a very young child – there is really no other way to say it – I looked extremely emaciated, like I had been rescued from a Nazi concentration camp. My arms and legs were spindly and my ribs were clearly visible underneath the skin. My face was thin, although thankfully it was fairly normal owing to the fact that the muscles in my face were mostly unaffected by my condition, and so I didn't have that gaunt, faraway look of death that you see when you look at images of people starving. But my body, then, had no real muscle mass and I am sure my Mother must have felt awkward sometimes, seeing strangers glancing at me as they wondered whether I was being mistreated and malnourished. I would think, though, that because I was - depending on my age - either in a wheelchair or a stroller, most people probably realised that way because of my disability, once they thought about it.
Ironically, I've always had a healthy appetite and my Mother was then, and continues to be, a fantastic cook.

Even now that my medical condition, which I previously thought was permanently stable, has worsened I continue to look healthier than ever before - even though now I am in constant discomfort and slowly losing my mobility, strength and some of my independence. 

The irony of this has not been lost on me, I guess I’m the Benjamin Button of Neuro-Muscular disease.