The Genetic Lottery
Unusually for a family in which three of four sons have Hunter syndrome, there is no known history of MPS in our family.
Some of my ancestors died at a relatively young age but it was when medical records weren’t as detailed as today and the cause of death in many cases wasn’t precise. So it’s impossible to know if they died from Hunter syndrome-related illness or not.
All we do know is that nobody in our family had ever been diagnosed with MPS prior to my brothers and me.
Hunter syndrome is what they call an X-linked recessive disease. Females may be carriers, but except in very rare cases, only males are affected. A female carrier has a 50% chance that any male child she has will have Hunter syndrome and a 50% chance that any female child she has will be a carrier. It is not always the case that the mother of Hunter syndrome is a carrier of the disease. It is a fair assumption to make that Mum is a carrier but she has never been tested so its impossible to know for sure (knowing would not change anything anyway). It is possible for the disorder to appear randomly. This is known as a new mutation.
To put this into real life terms, my two brothers who have MPS both have families of their own. One has a daughter and two sons and the other has two daughters. All the daughters are carriers and none of the boys are affected or carriers. Remember in human beings, males have an X and a Y chromosome and females have two X chromosomes.
The reason my nephews are clear is that they inherit their X chromosome from their mother; and because Hunter syndrome is carried on the X chromosome, they do not inherit the faulty gene. Any children that my nephews have will not be carriers or be affected, unless by some anomaly a mutant gene pops up. This is extremely unlikely and the possibility is only about one in 160,000 as it is in any pregnancy where there is no history of Hunter syndrome.
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This game of genetic Russian roulette can make any pregnancy a very stressful time, despite the evolution in the world of research and medicine. But at least now there is treatment available, like ERT, and other therapies are in the research pipeline. While they may not cure MPS, they will hopefully offer sufferers an enhanced quality of life and a better chance of living longer. This is especially the case for those diagnosed very early on in their lives.
The decision whether to have children because of the risk of passing along MPS, or any genetic disorder, is a very personal and at times contentious issue. I decided long ago I wouldn’t have children because of the fear of them having to live with Hunter syndrome (although remaining single has made that a moot point anyway) but my brothers have gone on to have fit and healthy children, and now grandchildren. While I don’t regret not having children, with hindsight I can see that sometimes it’s okay to just roll the dice and hope for the best, because often the outcome is positive. But I’ve also been privy to the heartache and worry my brother’s families have gone through as a result of my brothers’ health issues and as their children start their own families.
I sometimes wonder about the hand that was dealt my parents and how things may have been different if they had known of Hunter syndrome either prior to or after the birth of their first son. The genetics roulette wheel was definitely in play because their first, third and fourth sons all were born with Hunter syndrome. But not their second.
There is no logic or reason as to why/
I know for a fact Mum carries a lot of guilt. But as for me, I can say that asking ‘why me’, is not something I indulge in and never ever has any question of who was to blame entered my thoughts.
The world of what-ifs is absolutely pointless.
What if my oldest brother was diagnosed soon after birth and my parents decided against having any more children?
One thing I have wondered about is how things would be different if we had been diagnosed when we were younger. What would have changed?
It’s impossible to know. I guess it would have answered some of the niggling questions we had along the way, such as the cause of constant ear infections and the restricted joint movement, but would we have still had the same freedom to be normal kids? Or would we have spent much more of our childhood at hospitals and medical appointments?
If ERT had been available back then, our lives certainly would’ve been different.
Its availability makes it even more vital that Hunter syndrome be diagnosed at as young an age as possible. Much of the damage MPS has done to my body has been caused through 45 years of GAGs build-up. Elaprase is definitely helping me but it would be helping me a whole lot more if that 45 year’s worth of GAGs hadn’t built up in the first place. Another reason more needs to be done to raise awareness of all the MPS disorders.
For the sake of comparison, I’ll talk about Cystic Fibrosis (CF). It’s the most common, genetically acquired, life-shortening chronic illness affecting young Australians today and most people have heard of it. Roughly around one in 2,500 Australians are born with CF and since 1986, all newborns have been subject to a heel prick test for CF. While MPS affects around one in 100,000, it is not included in the heel prick test now, even though it’s a proven fact that early detection is crucial to a better outcome.
Sadly, the only way most MPS sufferers are diagnosed is when there is a problem with their health. Sometimes it can be years before being diagnosed or, as in our case, many years. Should the fact that CF and similar disorders are more common be a reason that they are included in newborn testing and not MPS?
The statistic of incidence accounts for nothing when you are the one that is affected.
I was different because I was always being told I looked different by other kids. I didn't feel different. Different to what? I'd never been anything else so I was the way I was meant to be. Different to other kids? Obviously, but we are all individuals. All different from each other.
I wasn't diagnosed until my early twenties so I lived all my childhood as a 'normal' kid. A normal kid who looked different and had some physical issues with stiff arms and legs - but that was just the way I was made. Of course, I wanted to be able to run faster and throw a ball further but we can't all be great athletes and someone must be last, right? I had enough ability and not enough of a disability to be able to hold my own in most sports. That was good enough for me, and besides, what could I do about it anyway? It's not as if you can go back and ask for an upgrade to a 'better' model.
That contradiction of being ABLE enough to not be regarded as DISabled has been a constant throughout my life and has impacted on me quite severely. I was obviously seen as different to other kids but not different enough to warrant investigation or to even have it questioned – either by me or anyone else.
Up until I was diagnosed, I had no ‘reason’ for being different, other than it just being the way I was made, so there didn’t seem any point talking to anyone about it. I think on some level, I also felt that by talking about it, it would’ve brought my feelings out in to the open and made the differences a lot more real.
I also had quite a feeling of shame as well. I didn’t want to look and be the way I was but there was nothing I could do about it, so talking about it would just have brought even more attention to my ‘differences’.
I wasn’t physically in pain, it was almost as if I was being tortured from the inside. From the outside, it must’ve looked like I just wasn’t trying to do all the things the other kids could. My arms just wouldn’t straighten. I was physically unable to put my hands on my head or cross my legs like everybody else, but it didn’t physically hurt me. It felt – and still feels - as if my body just refuses to give.
It’s not that I was shunned at school or continually taunted in the playground, it was much subtler and more constant than that.
Many of the kids only ever called my brothers and me by our cruel nicknames, simply because that’s how we were known. It was just so incredibly hurtful because the names were people’s reactions to you, based purely on how you look. People who don’t know who you are. People who don’t even dislike you, in fact they may even like you, but instead they are taunting you based on the way you look.
Others mimicked the way I looked. You can imagine the toll that takes on your self-esteem. Outwardly you build a tougher exterior. You refuse to show how much it hurts but inside, each remark becomes even more and more painful until it gets to the point that any comment about your looks, no matter how offhand, or even complimentary, makes your guts twist and tears well.
It came to the stage when I hated going to school. I would get pains in my stomach some mornings before leaving home. I’m pretty sure it was anxiety causing them.
But of course I was made to attend school. For all intents and purposes, I was just a kid who didn’t like school. As silly as it may seem in hindsight, while it was happening it was just the way things were. You hate school but you still have to go and that’s that. And even though we moved quite a bit when we were kids, and the schools changed as did some of the cruel nicknames, but the teasing remained a constant.
For me, it was only in the years after leaving school I came to terms with the real issues of why I hated it so much. As they say, hindsight is a wonderful thing. The impact of being bullied or teased and issues of low self-esteem are an accumulative thing. If you are picked on or teased once or twice you shrug it off and get over it, but when it is pretty much a constant part of your life, even an otherwise insignificant remark can feel like a huge knife being twisted in your chest.
I remember after a cricket game, I was about 11 years old and I was changing my shirt out in the open as boys do, and a teammate stopped me and pointed to my chest and laughed then commented something about one side of my chest being bigger than the other. Nothing had ever been said about my chest before. I wasn’t aware of anything. My parents and brothers had never said anything at all. I didn’t tell anyone about the incident. I just added it to the list of my abnormalities. Just another reason to be made fun of.
A couple of years later when I was having treatment for an unrelated matter the physiotherapist pointed out the difference to me and further investigation led to the discovery that I had an underdeveloped ‘pectoralis major’ muscle (the main chest muscle). Thankfully it doesn’t impact my body at all other than meaning one side of my chest is flatter than the other. But it’s yet another part of my body that is visibly different.
I think the reason no-one had noticed before then was because I was generally a scrawny kid and the difference only became noticeable when I began to develop as a teenager. I am now very self-conscious if I don’t have a shirt on.
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I can’t ever recall any discussions about differences between us boys, either between ourselves, or with family, friends or even strangers. We were four brothers. Four individuals. It was only in our twenties we discovered that three of us shared a genetic disorder.
For much of my childhood, living out of town meant we didn’t socialise with other kids a lot. We’d have mates stay over occasionally but most the time we hung out with each other. Lots of backyard cricket and soccer and motorbike riding as well as all the chores that had to be done around the farm. Almost everything was done as a family.
And when I was at school it wasn’t as though I was an outcast. I seemed to fit in with all the ‘groups’. The cool kids, the ‘nerds’ and all the others. My close friends never mentioned my ‘differences’, although they were obviously aware of the name calling.
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