Te Awamutu parents John and Rebecca Parker are continuing to raise money and awareness of mitochondrial disease after their son Maddox was diagnosed and ultimately died from the condition. Video / Mike Scott
John and Rebecca Parker began a mission to unlock secrets of the mysterious disease attacking their son while watching their baby boy bravely fight for his life.
So little information was publicly available about mitochondrial disease, when doctors first told them it would cause 5-month-old Maddox to "live aseverely affected life", there wasn't even a brochure about it for them to take away, John said.
"We had to go home and Google it," the Hamilton firefighter said.
The Te Awamutu couple, with other parents of affected children, started the Million Dollars for Mito campaign, to raise awareness of the little-known and potentially fatal condition affecting maybe hundreds of other New Zealanders – many without knowing it.
The campaign, which they started through the Starship Foundation, is funding the first national study of how many New Zealanders have mitochondrial disease.
Mitochondria are the powerhouses of the body's cells, creating the energy needed for the cell to function so we can breathe, talk, walk and move. Mitochondrial diseases are inherited and any organ system at any age can be affected depending on the type of genetic cause.
The Parkers became increasingly concerned when Maddox failed to put on weight and was having trouble holding his head up.
He was admitted to Waikato Hospital at 5 months, and after 10 days of intensive testing he was diagnosed with a suspected mitochondrial disease, John said.
He and Rebecca were told there was a possibility Maddox would never walk or talk.
It was recommended they see a metabolic specialist at Starship children's hospital.
Maddox's symptoms pointed to Leigh syndrome, a degenerative and deadly strain of the disease, and tests confirmed their suspicions.
The family of Maddox Parker, in the photo, who died from a form of mitochondrial disease. From left: Willow, 6, mum Rebecca, dad John and younger brother Hunter. Photo / Mike Scott
John was told Maddox would probably not live to his teens, and he "potentially could be with you for two or three years".
Maddox was never able to sit, crawl, walk or talk.
At about 9 months he began to lift his head and look around, but lost the ability shortly afterwards as his condition worsened.
"It's a cruel disease," John said. "He worked so hard to be able to do that, and then two weeks later that was stripped away from him."
Rebecca, a police officer, took a leave of absence to care for Maddox.
He suffered daily seizures, needed an oxygen machine to help him breathe and was fed through a nasal-gastric tube, but throughout his ordeal, Maddox could still smile.
"[Older sister] Willow would blow a raspberry on his tummy and he would giggle and have big smiles," John said. "Maddox gave us lots of joy."
Their son communicated with them through his eyes, he said.
"I think he was trying to tell us that he loved us."
In November 2015, a month short of Maddox's second birthday, he lost his battle with the disease one morning, surrounded by his family.
"I guess he knew he was being cuddled and loved by mum, dad and Willow, so it was his time to say, well thanks for everything and I've given up my fight," John said.
Inspired by Maddox and his struggle, fundraising activities around the country including mountain marathons and powerlifting competitions by police and firefighter teams, have raised more than $200,000.
The Million Dollars for Mito is funding the Starship research project, to find how many people have been diagnosed with mitochondrial disease in New Zealand from 2000-2015.
Data is being collected from specialists such as paediatricians, neurologists, geneticists, ophthalmologists and endocrinologists across the country as well as diagnostic laboratories.
There is currently no information on how many New Zealanders have the condition, but based on overseas statistics, Starship paediatric metabolic consultant Dr Emma Glamuzina said numbers were likely in the hundreds.
"What we'll be finding is probably the tip of the iceberg," Glamuzina said.
Patients could be being treated for conditions such as diabetes and deafness caused by a mitochondrial disease without it ever being linked to that. It was hoped the research project, to be completed next year, would pinpoint areas in the country where support was needed.
Greater awareness would help doctors diagnose more accurately and educate patients about what to expect. And as a search for a cure continues, genetic counselling would allow people affected by the condition to decide the risks of potentially passing it on to future children.
MITOCHONDRIAL DISEASE:
• Mitochondria are found in every cell of the human body except red blood cells. • They are responsible for making energy allowing us to walk, talk and breathe. They are needed for growth and development. • Mitochondrial disease is caused when mitochondria are faulty. When they don't work, major organs begin to shut down. • Symptoms include poor growth, neurological problems, seizures, poor co-ordination, developmental delay, poor eye movement, neurological deafness. Also heart, liver or kidney disease or failure. Adults may present with early onset diabetes and multiple miscarriages.
