17 September 2017
- Mitochondrial disease (mito) is a debilitating genetic disorder that robs the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.
- It is terminal; there is no cure and few effective treatments.
- One Australian child born each week will develop a severe or life-threatening form of mitochondrial disease. Find out more about mito...
As a baby, Alana failed to thrive and meet her milestones. She suffers from significant growth and developmental delay. After years of invasive testing, Alana was diagnosed with MEGDEL syndrome, an extremely rare form of mitochondrial disease.
Alana’s condition is progressive and unpredictable. Currently, she is unable to talk, and cannot walk, sit, or crawl unassisted. She relies on a feeding tube and many medications to slow the progression of her condition.
Despite this, Alana is a social butterfly who loves attention and being around people. Alana’s mum, Toni, says her four year old is determined and cheerful and has a contagious laugh.
Last year, Toni walked with her team ‘Act for Alana’ in The Bloody Long Walk Sydney North. Alana was there to greet her at the finish line, smiling from ear to ear.
"Mum always says I was a healthy, happy little boy, playing with my older cousins whenever I got the chance. But mito changed all that.
When I was four, my body stopped behaving as it should. My feet started to roll and walking became difficult. This began a devastating journey of medical testing, rapid deterioration and severe disability. By age five, I was in a wheelchair. I couldn't move, swallow any food, had severe muscle spasms and suffered many seizures.
My parents were told I wouldn't live past age 10. To add to my family anguish, my little sister, Laura, was diagnosed with mito when she was two. She started to lose her speech, movement in her hands and feet, and couldn't swallow solid food.
Mito tragically took Laura's life at age six. I was only nine years old...my heart was broken.
Mito made me more determined to live my life to the fullest. One of my greatest achievements was becoming the youngest person in Australia to go skydiving at age fourteen.
I proved everyone wrong by hitting the big 3-0 last year. I have completed my Certificate 2 in Business and I love playing as many sports as I can - sailing, surfing and wheelchair football, just to name a few.
There's no way I'm letting mito hold me back!"
Last year, Tom and his mates completed The Bloody Long Walk Sydney East. This year they are back to take on Sydney North. Join Tom and register for your nearest event today!
Sean is the CEO of the Australian Mitochondrial Disease Foundation. As someone with a family history of mito, Sean knows how devastating it can be. Sean’s mother and brother both sadly passed away from the disease.
Sean’s brother, Peter was 34 when he suffered a stroke-like episode, one of the first signs of MELAS, a form of mito. Peter suffered from hearing loss, fatigue, memory loss and balance issues. He fought bravely for 11 years, but sadly passed away in 2009.
Peter’s four siblings, including Sean, have all tested positive for genetic mutation that causes MELAS.
Walk, run or jog 35km to help cure mito
What is mitochondrial disease?
Mitochondrial disease (mito) affects 1 in 5000 people, making it the second most commonly diagnosed, serious genetic disease after cystic fibrosis. In fact, one in 200 people, or more than 120,000 Australians, may carry genetic mutations that put them at risk for developing mito or other related symptoms such as diabetes, deafness or seizures during their lifetimes. Many of these people are symptomatic but undiagnosed or misdiagnosed, some are not yet symptomatic, and others are unknowingly at risk of passing the disease on to their children. This is why The Bloody Long Walk is so important, not only does the event raise vital funds, it also raises awareness of this debilitating disease.
There are many forms of mitochondrial disease; it is highly complex and can affect anyone of any age.
The Australian Mitochondrial Disease Foundation (AMDF) supports sufferers and their families, funds essential research into the prevention, diagnosis, treatment and cure of mitochondrial disorders, and increases awareness and education about this devastating disease.
The money you raise through The Bloody Long Walk, will help people like Alana and Tom, and will enable AMDF to continue its vital work – thank you.
The Bloody Long Walk is owned and operated by AMDF.
Visit amdf.org.au for more information about mito.