It’s not easy being GREEN.
I’ve always loved the colour green. I had a splash of green in my wedding dress and I have emeralds in my wedding ring but I never thought it would represent something so meaningful and significant in my life. Green is the international colour used to represent mitochondrial disease (mito). Almost two years ago, my three-year-old son Aidan was diagnosed with a form of mito, a genetic disease that people are born with through no fault of their own or their parents.
Mitochondria, found in our cells, produce 90% of the energy required for the cells to sustain life. Aidan’s mitochondria do not work correctly. He cannot produce enough energy to allow his cells to function properly. This means Aidan struggles to do the everyday activities that five year olds love doing. Everyone who knows Aidan will know this doesn’t stop him from trying.
Aidan failed to thrive from the moment he was born. At birth, Aidan had an abnormal newborn screening test, indicating a possible metabolic disorder.
After failing to put on weight and several vomiting episodes, he was admitted to hospital at three weeks of age. It was the start of a roller coaster ride that no parent wants to be on. After more tests and no clear diagnosis, it was assumed that Aidan just had a feeding issue. What a relief – we were on such a high. Around three to four months old, Aidan seemed ‘floppy’ and, by ten months, displayed global developmental delay.
At 15 months, after contracting a common cold, Aidan’s body could no longer cope and he was rushed to the paediatric intensive care unit where he was placed on life support. He had deteriorated so rapidly and there were moments that we were not sure what would happen to our beautiful boy.
After an agonising 48 hours, the lowest of our lives, Aidan was taken off life support, however he was very floppy and struggled to lift his head. It took months for him to recover properly. More extensive testing still failed to identify Aidan’s illness. Like many with a rare disease, the diagnostic process was long and finally, after two years of searching, Aidan was diagnosed with mito.
To say that Aidan’s diagnosis was a very difficult time for our family will always be an understatement. His genetic test results indicate a potentially aggressive degenerative disease, yet remarkably in Aidan the disease, at this stage, appears to be less severe and he is making developmental progress. This is typical of mito, even with the same genetic mutation the disease can express itself quite differently in different patients.
Now five, Aidan attends mainstream school with the support of an educational assistant. He fatigues easily and uses a wheelchair to get around. Aidan still requires intensive occupational therapy, physiotherapy and speech therapy, and he is developmentally delayed.
It is very difficult to give Aidan a prognosis and this is probably the hardest aspect for my family to bear. We can only hope that the disease progression will be slow, but it is clear that without finding the key to proper treatment and a cure, Aidan’s life expectancy will be much reduced and his health and development are at risk when he contracts common illnesses, like gastro, or other childhood diseases, like chicken pox etc.
To my husband and I, Aidan was perfect the moment he was born. He is perfect. I know how much he loves life and we always do our best to make him laugh. I see how hard things are for him, even the little things but I see that he doesn’t let it bother him most of the time. This may sound overly sentimental and soppy but if you have walked a path similar to ours, you will understand.
When I watch Aidan, it makes me want to be a better person, he makes me try and be the best mum possible. We still grieve over his diagnosis and we are fearful of what our future might hold. We really try to not let it show and not let it bother us, most of the time, because it doesn’t bother him. Our family has so much to be thankful for and so much to look forward to. There is an incredible amount of support from family and friends who have helped raise awareness and funds to find a cure. Family and friends who have cooked meals, listened and been strong when our world was turned upside down.
Fiona Elmer
June 2016