Inglewood couple Jane and Dave Cleary first learned of the disease in April this year, when it was suggested as an alternate reason for why their son Archer was not putting on weight as expected.
He was also deaf and had liver issues, which are both symptoms of the disease.
Specialists at Princess Margaret Hospital (PMH) did blood and urine tests as well as taking liver, skin and muscle biopsies to determine the exact cause.
Over the following weeks, Archer was fed via a nasal gastro tube, which initially restored his health.
However, on Anzac Day, Archer’s condition deteriorated.
The couple, with their older son Jackson, went into PMH. It was then that Jane and specialist doctors suspected the mitochondrial disease diagnosis could be correct.
‘From the moment Archer was settled in the ICU room, his condition began to deteriorate. He was slowing down and an ECG scan showed that his little heart, which had been perfectly healthy only hours before, was beginning to fail,’ Jane said.
‘To this day I continue to have this picture in my head of the doctor pushing down so very hard on my baby’s chest trying to restart his heart.
‘I yelled at them to stop, telling Archer to go on peacefully, somewhere over the rainbow.’
Just 14 hours after he become unwell, Archer had passed away.
This week, test results came back revealing Archer had a very rare form of mitochondrial disease and was just the seventh person worldwide recorded with the condition.
Frozen samples of Archer’s tissue and urine are being sent to the Netherlands for further research.
Jane said she wanted to honour Archer’s life by building awareness of the disease.
Her first step is by putting together Team Archer to participate in the 4km City to Surf walk.
She aims to raise $10,000 on top of the $30,000 raised through selling donated bottles of West Cape Howe wines.
‘That money is going to building a network in Perth so that other families, who are affected by the disease, have someone to go to,’ she said.
N To donate, go to give.everydayhero.com/au/team-archer.
N To read Jane’s full story, go to amdf.org.au/archers-story.htm
N What: A debilitating genetic disorder that robs the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.
N Symptoms: lose of sight or hearing, muscles weakness and pain, inability to walk, eat, swallow or talk normally, strokes or seizures, liver disease or diabetes, heart, respiratory or digestive problems, development delays
N Who: can affect both children and adults
N Occurrence: About 1 in 200 people may carry genetic mutations that put them at risk of developing the disease or related symptoms
N The Australian Mitochondrial Disease Foundation was set up in 2009 to promote awareness and fundraising into the disease
N World Stay in Bed Day is held on Sunday, September 22.