Jamie was a seemingly healthy baby at birth. Throughout his infancy he thrived. There was no indication at all of what lurked beneath the surface waiting to present itself. Into toddlerhood Jamie was meeting all of his milestones and although he was a little more reserved than his brother, we had no reason to suspect that he was anything less than a perfectly healthy child.
When he was 18 months of age, my Mummy Senses started to tingle. He became "lazy". He began to crawl around the house instead of walking. At his checkup, the nurse didn't seem to be that phased by my concerns but she was kind (perhaps 'wise' is a better word) enough to suggest that if I was still concerned, she would refer him to a paediatrician. We took her up on this offer (always, always trust your gut) and 6 months later and with continued gradual decline in Jamie's physical movement, we received, quite probably, the worst news a parent could be told. "Your son has a genetic disease".
Ok, that's not the worst news, is it?
So what now? How do we treat it? What do we need to do? When can we start?
Even at this point, I was clueless of what was to come, naive enough to think a diagnosis would lead to treatment, would lead to cured.
If you have heard of this then you are one of the few and far between.
This very rare genetic mutation, resulting in failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
So, here is the worst news: Our son's mutation had no treatment and no cure. We had been sentenced to watch our child die.
I grieved. I desperately tried to find a loophole, a bargain, a trade even. If I had ever doubted that I would give my own life for my children, there was no doubt left now, I would have given anything to make this go away, to have my baby running and playing again, even if it meant I wasn't here to see it.
For months, I searched for answer.
"Let this be a mistake. Please, don't make me watch my child fade away."
The diagnosis was no mistake and in time that followed we accepted his fate, as much as any parent can. Yes, we would have to watch him die but until that time came, we would be blessed to watch him live.
|Jamie died on the night of October 18, 2007 in the comfort of his home with his family by his side.|
If you would like to learn more about Mitochondrial syndrome and what you can do to help support families and further research visit Australian Mitochondrial Disease Foundation website -