JULIE Maguire sat in her car with tears streaming down her face. The 67-year-old pensioner had just been told she had mitochondria disease, an incurable genetic disorder that would rob her of her energy, her muscle function and cause debilitating pain.
The Yandina resident had been puzzled as to why her balance had been out of kilter and why she was feeling constantly exhausted. In 2012, she went to her doctor with her concerns, the start of a long, sadly all-too-common process that patients with “mito”, as they call it, often go through. “I noticed that I had a lot of weakness in my legs and I became quite unco-ordinated,” Julie said. “I felt embarrassed with people who would walk behind me because it must have looked like I was drunk. I went to the doctor and they sent me to the neurologist who put me through a horrendous lot of tests.” The tests came back but they couldn’t find anything specific, one of the biggest problems with mitochondria myopathy – it’s very hard to detect and it mimics other diseases such as Parkinson’s. Julies eyelids had dropped and she was sent to an eye specialist in Brisbane who, after seeing her three times, performed a muscle biopsy.
“When the results were returned, the specialist told me the biopsy had come back with red ragged fibres, meaning I had mitochondrial disease, and I would end up in a wheelchair,” Julie said. “I sat in the car in shock. I don’t remember driving home.”
Australian Mitochondrial Disease Foundation CEO Sean Murray explained that mitochondria were found in most cells in the body, with each cell having tens to hundreds of mitochondria. “Mitochondria can be described as the power of the cell which uses up fat and sugars that humans consume and then converting them into energy through a complex biochemical process,” he said.
Where it all goes wrong for mito sufferers is when abnormalities in the mitochondrial energy production pathways in people’s cells fail to work properly which leads to an abundance of free radicals. The devastating sequence of events which involves a number of key cell processes contributes to the symptoms typical with the disease: loss of eye sight, poor co-ordination, inability to swallow and eat and, worryingly, seizures and strokes.
One day, Julie stopped breathing and was rushed to hospital and placed in intensive care. Because the medical personnel were unfamiliar with mitochondrial disease, Julie said they didn’t acknowledge it and her condition was too risky for an anaesthetic. “They had to give me a needle to stop my heart beating and I can remember that feeling… it was horrific. I vomited everywhere,” she said. “I wondered why everyone was holding me down. They said ‘I’m sorry because of your condition we can’t give you any sedation’ and they put this tube into my mouth and they filled my lungs up with water and I felt like I was drowning. I know doctors can’t know everything, but it’s really hard trying to deal with people who don’t acknowledge it. It’s an extremely lonely disease.”
A woman with a keen sense of humour, Julie was 20 when she met the love of her life. Her brother Ronnie had hit a kangaroo with his car in Bordertown, South Australia, and called upon his mate, Kevin, to help him tow the vehicle home. Bringing his mate home, he met Julie and they fell in love. In 1971, the pair married in Adelaide. Three years ago, Kevin was diagnosed with Alzheimer’s disease, leaving Julie to care for him full time as well as battle her own illness. “He’s the love of my life but now he’s got Alzheimer’s I don’t have anyone to sit down with and talk to about it because Kevin can’t remember what I said about it the day before. So it makes it extremely difficult and he’s getting a lot worse.”
The AMDF has estimated that about 120,000 Australians may carry genetic mutations that put them at risk of developing mitochondrial disease. Julie urges people to have a muscle biopsy if they, or their children, show signs symptomatic of the disease such as constant exhaustion, poor muscle development and respiratory problems. “With Kevin’s Alzheimer’s, I can talk to people and there’s so much help out there for him, but for mito, Centrelink, doctors and the public won’t acknowledge it,” she said.
The AMDF was established in 2009 by family members of patients with the disease and does not receive government funding. Relying solely on donations, the CEO of the foundation had to become innovative. “The Bloody Long Walk is now our biggest fundraiser to benefit mitochondrial disease and all profits help us continue our research, patient support, education and awareness initiatives,” Mr Murray said. The walk is a 35 kilometre slog that takes place around the country from August and participants can sign up for it at www.bloody longwalk.com.au. The AMDF helpline is 1300 977 180.
(published Sunshine Coast Daily Jul 10/16)