I'm Different.

I was about ten when it first began to dawn on me I was slightly different to the other kids. 

Up until then I was just a cute little boy, or so I was told. I had always been shorter than most in my class but was never actually the shortest. I’m told I was a likeable, pleasant child -  I wasn’t the most popular but I had friends, both boys and girls. I guess until then I was just another kid. 

But it slowly started to occur to me that I wasn’t always able to do things they could. I had never been a fast runner, but now I felt like I was struggling to even keep up, let alone beat anyone.

I could feel my arms becoming more restricted, especially when I was playing sport. I had trouble with throw-ins at soccer, I couldn’t throw a cricket ball very far and my bowling action had started to become awkward. But I continued to play. 

My older brothers Phillip and Greg were facing similar difficulties and while we just continued on as normal, these differences started to become more obvious to the other kids and this was when our childhood, and indeed our lives, changed. 

Kids being kids, our peers seized on the differences and cruelly teased and tormented us. The name calling and taunting became relentless and cruel. I began to hate school. I would often feel sick in the stomach in the morning and would be in tears not wanting to go. 

Even in the face of this torment, we still never questioned why our arms wouldn’t straighten properly, why our joints were stiff or why we had any of the other physical features that were starting to appear or become more apparent. To us it was simply the way we were made. 

I guess I have always been quite good at compensating or even hiding any issues.

One of my great loves was cricket. I loved to play cricket. From when I was nine through until about 14 I suppose I was a reasonably okay batsman and an okay slow bowler. But the restriction in my arm and shoulder hindered my fielding as I was unable to throw the ball very far. So, I countered my weak spot by fielding close to the wicket to negate the need to throw the ball any great distance. The other kids in the team were never the wiser.  

Those years, between the age of about 10 to 16, were the years that scarred me psychologically for life. It is only now as I look back as an adult that I can see just how much damage was done by that name calling and teasing.

While not everyone would call us names to be intentionally cruel, all the kids still referred to us by the cruel nicknames we were given – so whether they were trying to be nasty or not, it hurt just the same, if not more. 

One of my brothers was just two years ahead of me at school so we were at the same primary and secondary schools together, and because we had similar physical features and limitations, the nicknames were applied to both of us. 

One of my biggest regrets and something I will always be ashamed of is the way I sometimes lashed out at my brothers by using the nicknames and the taunts that hurt me so much at school. 

I was hurt and frustrated. I didn’t want my brothers and I to be different to everybody else. I’m sure a psychologist would be able to better understand why I lashed out in that way, but when I think back now I can see it arose from frustration and anger at the way my brothers and I stood out from the crowd. I was looking for someone to blame and to take my frustration out on. It was the first time in our lives we’d experience the alienation of feeling unlike the other kids.

And this was all long before the days when bullying was frowned on. If you complained to the teachers when we were at school you were just told to stop being a sook. 

On more than one occasion I told the teacher about some kids picking on me in class; and in front of everyone, he mimicked a baby and told me to ‘stop whinging’.  It didn’t take me long to learn it was a much better option to have a few kids making fun of me than the whole class – including the teacher. 

Thanks to that early bullying, I am to this very day uncomfortable making eye contact with anyone and I rarely  look in the mirror. I dislike having my photo taken. This early taunting makes me even more sensitive nowadays when I’m out and a young child innocently points at me or make a comment to their parents about ‘the funny looking little man’.  As soon as I feel eyes upon me, memories of those torturous school days come flooding back and I want to run and hide. 

The teasing started around the same time we saw the first hint of a health anomaly.  I can’t remember it being anything specific, but for whatever reason one of us boys went to the family GP who discovered a heart murmur.  So, we were all duly tested and, as a result, diagnosed with slight heart murmurs. It was only slight but we were nevertheless referred to a specialist who confirmed the diagnosis.

It was this specialist who suspected there was an underlying medical condition linking the three of us, but he couldn’t quite figure out what.  Looking back now, this was the closest we came to an investigation and a childhood diagnosis of what made us so different from the other kids. 

But, as was our way, no further answers were sought and we simply continued living our lives.

That world was turned upside down on 15 March 1984.

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I awoke that morning in excruciating pain. I had trouble seeing out of my right eye and my head felt like the top of it was going to blow off. The pain was like a bad ‘brain freeze’ you get from eating ice-cream too quickly.

I was 19 years old and we were living in Coffs Harbour at the time.  Mum drove me to the hospital where I was fortunate that one of the nurses on duty had recently returned from an in-service course in which they had covered the topic of glaucoma.

It was a Sunday morning so the hospital had to arrange for the ophthalmologist to meet us at his rooms.  After running some tests the ophthalmologist confirmed I was suffering from acute angle closure glaucoma.

The IOP (pressure) in my right eye was extremely high and I was immediately admitted to hospital for intense medical therapy including frequent eye drops and an IV diuretic. A few days after the initial attack I underwent surgery to try and stabilise the IOP. The next few hours, weeks, months are a bit of a blur as my life was suddenly turned upside down.

At around the same time my brothers, had been having a few health problems as well. These were mainly heart and lung related.

Over the coming months, I was travelling a fair bit to Sydney for specialised eye care. It was on one of these visits that an appointment had been arranged with a geneticist.

I’m not exactly sure what prompted the appointment - much of the nitty gritty of what was happening at the time is still a bit of a blur - but I’m pretty sure the appointment with the geneticist was arranged because it was now impossible to ignore there was something unusual linking the three of us together healthwise. 

The combination of my brother’s worsening health problems, and of course, my eye problems, were causing doctors to start looking for some answers.

It was initially this geneticist who connected the dots between Greg, Phillip and I and diagnosed us with Hunter syndrome (MPS II).

Of course, we had never heard of it, and despite dealing with loss of sight in my right eye and the glaucoma, even with the new MPSII diagnosis, I was still just me! Okay, so two of my brothers and I had a rare genetic disorder but we were still the same people we were before. The diagnosis was more for the benefit of medicos. Or so we thought at the time. 

A few months later we were visited by a genetic counsellor who showed us photos of others with MPS disorders and pointed out all the similarities in features between them and us. I remember it seemed like the counsellor was taking a perverse pleasure and almost excitement in this – she had clearly forgotten we were people who actually had to deal with the implications of what she was telling us.

Even worse, most of the features she was taking such pleasure in pointing out were the same ones that had provoked the terrible teasing we endured at school, so to me it felt like being teased all over again.

There we were, sitting on our lounge, in our own home, being shown photographs of other people and being told that basically THIS was who we were. As if for the previous twenty odd years we had been living lives as people we weren’t, which wasn’t the case at all.

We had always lived our lives as individuals. Certainly not as stereotypes conforming in a certain way and to someone else’s expectations just because we had a certain medical condition, which up until then we had no idea we even had. Maybe it would have been different if we had actively been searching for answers as to what made us different, but we never felt like we needed them. So, every time the counsellor pointed out another similarity between us and the photographs she was showing us, it brought back all those horrible memories of being teased at school. I’m not sure if it was denial or rejection, but I chose not to allow the diagnosis and everything associated with it to affect me at all. I just got on with living my life as I had done before. The reality was the diagnosis didn’t change anything other than put a name to the condition.

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Other than regular check-ups from an ophthalmologist, my next real medical incident came in 1994 when I began to experience the occasional tingling sensation down my arms when I tilted my head back to put in my eye-drops.  I was referred to a neurosurgeon who arranged for me to have a myelogram and an MRI. These tests showed that my spinal cord was being squashed by a thickening of the material around it. The thickening was caused by a build-up of GAGs as a result of MPS. Another blow. But the neurosurgeon said it was too risky to operate at that time and recommended I just continue to live my life. And so I did. 

Sometimes I wonder how my life would have been different if we’d been diagnosed as kids.

Growing up undiagnosed had allowed us to have a normal childhood without constant wondering if every cold, cough, ache, pain or any other minor ‘normal’ ailment was caused by Hunter syndrome and required urgent medical attention.

Of course, it is impossible to know whether that would indeed have been the case, but I do know that since diagnosis I can’t help but wonder whether even the most minor ache, pain or cough is being caused by the disease. I have learned not to overthink minor ailments, but I can only imagine how parents of children with rare and life-threatening disorders must worry at the slightest sign of something being not quite right.

For us, being diagnosed as adults meant we had the benefit of hindsight – we were mature enough to assess what we were told and appreciate we were relatively mildly affected. Had we been diagnosed as young children, I really believe our worry would have been much more intense. There was, and is, no real way of knowing how ill a child with Hunter syndrome will be as they get older.

In reality, I honestly believe the only real benefit of an earlier  diagnosis would have been if there had been a treatment or a cure available; or if a medical problem could have been treated more appropriately for a Hunter syndrome patient.

But none of those things existed when I was a child, anyway, so ‘what-ifs’ are pointless.

The first and only treatment for Hunter syndrome, which is Enzyme Replacement Therapy (ERT), only became available in 2000 and in Australia, not until 2008. Now it is an option of course, the earlier a child is diagnosed and begins ERT the better it is. 

The lack of a diagnosis and my philosophy that my physical differences from the other kids was ‘just the way I was made’, enabled me to live a normal childhood. I’m sure had I been diagnosed as a child I probably wouldn’t have been able to experience many of the things I did. 

Even though it is impossible to know for sure how an early diagnosis might have impacted our family, I have a feeling we may not have lived in the various places we did during our childhood.

I’m thinking particularly about the years we lived on a farm, in the New England region of NSW. I’m not sure Mum and Dad would have bought a three-and-a-half-thousand-acre property an hour’s drive from the nearest town if they had known that three of their children had a rare and life-shortening medical condition.

The absence of a diagnosis and therefore for all intents and purposes a serious medical condition, meant I was just different. I think if I had been diagnosed then the teasing and bullying would have been even more cruel. I am certain it wouldn’t have stopped it. Personally I think it would’ve cut deeper because it wouldn’t have just been about the way we looked, but about something real and tangible we couldn’t help and couldn’t change.

It would certainly have made my differences more real to me.  It is one thing to be teased by kids who just have a childish perception of you, but another thing entirely when adults are telling you are different too.

From a medical perspective, I think it was a case of ignorance being bliss. I wasn’t a sickly child. I had the usual measles, chicken pox, colds and various other childhood sicknesses, but each one was treated on its merits. I’m quite sure if I had been diagnosed with MPS then even a simple cough or cold would’ve been treated much more seriously.  And I also believe sick creates sick. The more time spent around hospitals and doctors seems to lead to even more time spent around hospitals and doctors.  It seems like the more they look for something the more they find. 

The topic of what an earlier diagnosis might have meant for me and my family is a complex and emotive one. What if my oldest brother had been diagnosed early on in his childhood? Would my parents have continued to have more children (my brothers and I)?  

When I look back, I am grateful we were adults when we were diagnosed because we were old enough to take ownership of the diagnosis ourselves, and therefore share the burden and grief with our parents, rather than them shouldering most of it on their own. We could reassure our parents by sharing our common belief that the diagnosis was not the end of the world. Sure, the diagnosis put a name to ‘the things that were wrong with us’ but it didn’t alter who we were. We were able to tell our parents sincerely, and live our lives in the spirit of this, that even though we had inherited a terrible disorder, we could deal with it as a family, thanks to the strength they had given us through their love. 

I know Mum feels guilty as it is (females are MPS carriers), but I think that guilt would have been more difficult for her to bear had we been diagnosed as young kids. The origin of our MPS is most likely genetic, but our mother has never been tested (because the results would not change anything anyway), so we aren’t 100% sure. As adults, we could tell her we knew a genetic disorder like Hunter syndrome was no-one’s fault. It really is a roll of the dice.  

The late diagnosis also gave my brothers and I the chance to choose our own destiny rather than allow the disease or doctors dictate what we could or couldn’t do.