I became involved with the Mito Foundation as I have a family history of mito.
My 19-year-old daughter died from Mitochondrial Encephalopathy Lactic Acidosis and Stroke Syndrome (MELAS), a form of mitochondrial disease. I have the same condition and my mother also died from this disease at the age of 89. My mother’s two aunties and an uncle also likely died from this devastating condition — although they were never formally diagnosed.
The first thing to understand about mito is that it affects everyone differently, even within the same family. My late mother and daughter had different symptoms, and mine are different again.
My mother showed minimal symptoms, although she did have several allergies like the rest of us. Mother had minor gut and bowel issues, foot and leg cramps, and in her 60s developed a shake in her hands. It wasn’t until her late 80s that she started having stroke-like episodes typical of MELAS and died in 2014, at 89.
In 1971, after a dream pregnancy, my daughter Shayli was born in Adelaide. She was a month overdue but nobody seemed concerned. However, after she was born by emergency caesarean section, there were alarm bells — for me at least.
Shayli did not feed well; she simply became too tired and fell asleep after less than 2oz of formula. She was never able to breast feed due to lack of energy and poor sucking reflexes.
She was slow to grow and although she smiled early, she couldn’t sit at all.
When Shayli was about 4 months old, I took her into the Adelaide Children’s Hospital for physio every day. Here, she also had access to other therapies and at 11 months, she started attending the Woodville Spastic Centre in Adelaide as the youngest patient ever admitted. Shayli was described as having a-typical cerebral palsy, a description often used before mitochondrial disease was recognised.
With my husband’s work, we moved from state to state until Shayli, as a teenager, became sick of changing schools and chose to live in Adelaide in a home operated by the South Australian Spastic Centre while we went back to Sydney. She was a very healthy, happy girl and was into Girl Guides/Venturers, pop music, and socialising with friends. She never spoke or walked, but was intellectually fine. I think this made life harder for her.
At 14, Shayli had her first stroke-like episode, as we now know, and, over the next 5 years, was in and out of the Adelaide Children’s Hospital so many times that I lost count. I’m very thankful for the assistance provided by her neurologist Dr Jim Manson and the staff there, who were very supportive even though there seemed to be no medical explanation for Shayli’s condition.
She lost partial vision after one of the stroke-like episodes, had seizures for 12 days and went into a coma for a while. These episodes were referred to as either a massive seizure, a huge migraine or perhaps a stroke — but no, it couldn’t be a stroke because scans showed no blockages or bleeds on the brain! What was it?
Shayli eventually went blind and her hearing became so sensitive that she could not bear the sound of her favourite pop music or even her dog. She was tested for everything known at that time, but all tests came up blank.
Eventually in June 1990, Shayli went into a coma from which she never recovered. She died in August 1990, aged 19.
At about the same time, the condition of mitochondrial disease was first recognised by medical science. We received a diagnosis of MELAS in July 1990, just 2 weeks before Shayli’s death. I was told she was 1 of 3 known in the world (at that time) — perhaps the first in Australia to be diagnosed.
In September 2012, research was published indicating that mitochondrial disease is at the root of many illnesses and is as common as maybe 1 in 200 people carrying the genetic mutations that put them at risk. One Australian child born each week will develop a life-threatening form of this disease!
In 1995, in my early 50s, I was diagnosed with MELAS. My son may have it too, but fortunately in a much milder form. I’m very lucky to have had the support of Professor Carolyn Sue and Dr Christina Liang at the Royal North Shore Hospital in Sydney, explaining things, listening to me and being generally wonderful.
I have always been affected by mito, with muscle weakness, irritable bowel syndrome (IBS), exercise intolerance, quick lactic acid build up, intolerance of temperature extremes, foot and leg cramps, multiple allergies, and migraine headaches. I also had both of my children with emergency caesarean sections as my body ran out of energy to continue to labour.
As I have grown older, my symptoms have progressed. I have developed a tremor of my hand, myoclonus (sudden and involuntary jerking of muscles), asymmetric deafness, brain fog, and occasional instability of my gait, for which I use a walking stick. I experience fatigue more often and more intensely than just simply being tired, which can also slow my speech. I try not to put myself in situations where I might make things worse by being over-tired or over-stressed. I have found some supplements help with the brain fog and the fatigue.
I get some support through My Aged Care to help pay for gardeners and cleaners. It took a couple tries to find a good match but now I’m happy with these supports and it helps me conserve my energy.
I also found it useful to consult with a dietician, they suggested a Mediterranean diet because most people with mito need their carbs, but it also gives you lots of fresh fruits and vegetables and reduces artificial colourings and flavourings. I urge people to consult with a dietician to find a diet that works best for them.
It makes a huge difference to have health care professionals who know about mito. A lot of the things I learned a long time ago about mito are now starting to come into effect as I age. I really appreciate those doctors who are aware of how mito can progress as we age and continue to monitor and test for new issues.
I’ve spent a lot of my life educating health care professionals about mito. I’ve also worked as a volunteer in the office of the Mito Foundation in Sydney and have done what I can to raise awareness of mitochondrial disease in the general public. I’m delighted to help the Mito Foundation in any way I can. I often lead the Digital Older Adult Mito Meet-ups and enjoy connecting with other community members. I hope that, eventually, the funds raised will lead to a cure and my beautiful Shayli will not have died in vain.