Will and Tom’s Story

My husband Steven and I have four special, fantastic, gorgeous, much loved children – William, Georgia, Dimity and Thomas.

Our two gorgeous girls – Georgia who is nine and Dimity who is six – are both such good fun, full of life, great at sport and love their friends and school. And then we have our two great loving boys: Will who is ten and Thomas who is six, who are also both full of life. They, however, are not so healthy or as active as our girls, due to a debilitating and potential fatal genetic disorder … mitochondrial disease.

It was a disease neither Steven, nor I, had ever heard of before it arrived in our family, so how could we possibly know we would be carriers … there’s no family history … so there was no warning … and no reason for us to be tested before or during our pregnancy.

Our firstborn son William was diagnosed with mitochondrial disease at just three, but only after enduring many doctors, endless tests and various misdiagnoses.

He’d developed slowly, struggled with his feeding, had tortacollis (wry neck), and was a shocking sleeper – just a really difficult baby. My GP at the time told me Will was just a lazy boy, a clumsy boy: oh, he just has low muscle tone, he will strengthen up… don’t worry about it. But as time went on things just weren’t right, the alarm bells slowly started to go off and we started on the hunt for answers.

During this time I had my second child, Georgia, who was a healthy and happy dream baby, thank goodness.

Just before Will turned two, we finally got in to see a specialist who took one look at Will and told us he had cerebral palsy, but needed an MRI to actually properly diagnose it. We were referred to another neurologist. The good news was Will didn’t have cerebral palsy, but the bad news was that he had brain lesions, with a movement disorder. But this didn’t give us a diagnosis to explain why our son just couldn’t do what his other two-year old mates could… walk, feed himself, catch a ball, hop, float, ride a bike, hold a paint brush, or build with blocks. I switched to practicalities, hoping that with ongoing physio and speech therapy all of this early intervention will fix our little boy.

We had a baby girl growing up right in front of our eyes, so we put life back into perspective and a normal life still seemed within reach. We went on with our lives with a wobbly clumsy Will and Georgia. We kept going back to see the neurologist for routine visits, but no answers. Will hadn’t got any worse but he hadn’t got any better.

Then the next bombshell hit: I was pregnant with twins. Will was only just three and Georgia was 18-months old.

In the meantime poor Will the human pin cushion was a target again. More blood tests, another MRI, another lumbar puncture. This time we were referred to neurogeneticist Phillipa Lamont. What does a neurogeneticist want with our family?

In May 2003 our lives took a turn for the worse: we were the ones responsible for Will’s condition. This was the first time Steven or I had heard the words “mitochondrial disease”, and in our case, Juvenile Leigh disease, one of a hundred types of mito.

This was crazy. This “whatever it is”, is a genetic condition that we both passed on to our son. But how can our daughter be okay? I remember asking: she is okay isn’t she? Well yes, Georgia was fine…but that long pause: it’s about the twins you’re carrying. There is a 25 per cent chance that each of your twins could have it… I could see Dr Lamont’s mouth moving but no words were coming out…

When our twins came along, Dimity met all her milestones easily, but her twin Thomas lagged behind. Steven and I got a sinking feeling that we’d seen it all before and we had. This time we knew how to get the diagnosis and more about what we were dealing with. Thomas was diagnosed with Juvenile Leigh disease at just nine months of age.

We watched Thomas eagerly, hoping he might somehow recover or that it was a mistake but now at six years of age, our youngest boy’s symptoms are more severe than William’s were at the same age. Thomas now needs his walker every day, he is forever falling and stumbling, he fatigues quite easily. His eyesight is also deteriorating; he has respiratory problems, poor growth, swallowing difficulties and laboured breathing, and at times it’s difficult to understand his speech.

William is now ten … His life has never been really easy for him: the constant health setbacks, the constant fatiguing of his body, and the rapid deterioration of his vision, and his developmental delays. It’s something no parent wants to ever see. We used to watch him struggle to walk … now he needs a walker every day at school because he gets so tired, and a walker helps to ensure his safety. Some days he is so fatigued he struggles to put one foot in front of the other.

He asks us all the time why do I have a wobbly body…… why can’t I kick the football like the other boys … do you think I will ever be able to learn to read and write like the boys in my class? It is heartbreaking that as a parent you cannot give your child the right answer. We would love to be able to tell him everything will be okay and you will get better soon……but we can’t, as we just don’t know what lies ahead for him.

We all want to try and do something positive about a condition that’s anything but. I and others, including Dr Lamont, have set up the WA branch of the Mito Foundation, which aims to fund research into the diagnosis, treatment and cure of mitochondrial disorders, and to support those who are affected.

Steven and I now watch both our boys and wonder what mitochondrial disease is going to do to them. We simply don’t know. We live our lives with uncertainty and fear as at present there is no cure… and all we have is hope.