2nd Asia-Pacifiic Lysosomal Conference 2019

Rachel's Story

This great misfortune
that befell you and me….           100244
Why, it will turn out not to be a misfortune at all,
but and unimaginably wonderful drama
that touches us and all our friends!

Lucky for Adam and I when we first started trying to find out why Oliver was developing differently to the norm we also had a demanding newborn. James came with a hiss and a roar, and a few dozen very loud swear words after a 50 minute labour, and he has not slowed down since. Dealing with lack of sleep, a colicky 6 week old and the drama involved in diagnosing a 17 month old with a very rare genetic condition is now a distant memory. I was truly grateful that James demanded so much from me that I didn’t have time to become consumed by the grief surrounding Oliver’s diagnosis.

If we sat around dwelling on the diagnosis and all the bad things and the reality of what the future was going to hold, it would have destroyed us, so we don’t spend the time dwelling on Oliver’s diagnosis – at least not too much.

You know when you meet someone, and you really like them, start falling in love, and you get that sharp intense feeling of butterflies? Well if you turn that around and times it by a million that is the kick in the guts that you get when you think about the difficulties, pain, awkwardness, operations and lower life expectancy that lie ahead for your precious child. Over time you train yourself to block anything that triggers this, but in a quiet moment, or an unexpected or thoughtless comment by someone it gets you. It is always waiting for your guard to drop.

Some day I would hope that any parent who worries that there is something not quite making sense with their baby will not have to go through what we did to obtain a diagnosis.

The first sign that there was something amiss was his slightly, at that stage anyway, protruding bottom rib, quickly labeled a neurotic mother I was fobbed off by my GP. One morning I woke to find Oliver’s eye swollen shut, I raced him to the doctor only to be told to go home and wait for the swelling to go down as some children respond like that to a mosquito bite around the eye area. After taking him home I couldn’t relax so I took him to Star Ship Children’s Hospital where he was quickly admitted for a severe sinus infection that could possibly move into his brain. Whilst in the x-ray room I requested chest/rib x-rays to see if we could find something out about his rib.

The sinus infection cleared up in a few days and we were sent home. A few calls later about the x-ray I was told that if there was something amiss they would contact us straight away. I later found out, whilst reading Oliver’s notes while the doctor was out of the room, that his x-ray had done the rounds and no one knew what to do with it and it eventually found the too hard basket where it stayed.

By this stage I was heavily pregnant with James, and Adam’s concerns over Oliver’s rib and by this stage his chest, were becoming increasingly louder.

I had been scoffed at by a few doctors and looking after a baby while pregnant was getting pretty tough. Being told by health professionals to stop worrying and start enjoying your children was getting boring. However; Oliver’s continuing ear infections, his lack of speech clarity, slowing in growth and his wobbly gait when he walked were becoming more and more noticeable and worrying. We decided to look into the possibility of grommets to alleviate the ear infections and see if that would help with his speech. With a six to nine month waiting list in the public system we raided the money tree (mortgage) and went private.

We still didn’t know the full extent of what we were dealing with and when I look back now I cringe at the thought of Oliver being anesthetised without more careful consideration. The operation seemed to be the turning point. I became more insistent with Oliver’s care and demanded from a new GP full x-rays. At 20 months old Oliver was diagnosed with skeletal dysphasia both Adam and I were very frightened with this diagnosis. What the hell did that mean? I was struggling with a 20 month old and a 3 month old. I couldn’t see how I would manage operations and what ever else that meant. More x-rays were taken and then one Friday night a fax came through about 6pm with a diagnosis of MPS and a note telling us not to look on the internet. We didn’t have a computer so I raced to a friends house looked it up and suddenly our world crashed around us. We had an entire weekend ahead of us with no medical professionals to answer any questions. I think we cried all night and then got up in the morning and went to the SPCA and got Oliver and James a cat.

The rest of what happened is a blur of medical appointments, tests and questions about the possibility of Adam and I being cousins. I made the house a no crying zone, and refused to speak to anyone that cried about it. No one was going to be sad that Oliver was how he was; he was and still is perfect.

Since then I have put a stop on most of the medical side of Oliver’s life. For a long time I had seen no real point in subjecting him to an array of tests that didn’t seem to be making any difference. I established a baseline for everything including hearing, eyesight, ECG, height, weight, speech, and anything else I could find and then I pushed the appointments out to every two years. I keep Shunji Tomatsu up to date on any changes in Olivers growth, which is very little. I am hesitant about any medical intervention, especially operations because of the varying ways Morquio can present itself. I am hesitant to put my faith in the New Zealand’s medical fraternity which is limited severely by funds, staff, and knowledge.

Luckily we got to the MPS conference in Australia in October 2007 where we were surrounded by people and doctors with a wealth of knowledge and the future is looking a little less hazy. Prof. David Sillence from Westmead Children’s Hospital Sydney, was pivotal in helping answer some questions we have about Morquio disease. Through his care and knowledge he has really put us back in the driving seat with regards to Oliver’s future medical needs. Adam and I feel there is more that we can and will do and with Prof. Sillence as a reference point.

So who are we, Adam and I, carriers of the Morquio gene, parents to Oliver and James. We are a family, who through Morquio (MPS 4) have become closer, more loving, more understanding, stronger, prouder, more content and more at peace with how we want our family to be and ultimately how our family will face the future embracing all of our needs, and any of Oliver’s extra ones.

We have recently purchased some land on the north west coast in a small settlement where we hope to build some sort of holiday accommodation. Our future holds a lifetime of holidays to the beach where we will teach the boys to camp, light a camp fire, fish and surf. What I have learnt is that with Oliver, he can do everything as long as you change your perspective of how you think it should be done, and help him to do it his way.

The important thing is this:
we are alive, you and I.
Let’s not brood over the past
or worry about the future.
Live with me,
day by day, moment by moment,
sometimes thoughtfully, sometimes joyfully.
Yoh Shomei, The Gift of Life.