- 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 are no cures 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...
“Noah was born at just 29 weeks. At a young age, he began to suffer from symptoms, including failing to thrive and stroke-like episodes. My husband and I fought to find a diagnosis that would explain what was happening to our son.
“As months turned into years and Noah underwent test after test, including invasive muscle biopsies, he was incorrectly diagnosed multiple times. Noah’s biopsy results suggested he didn’t have mito – nobody knew what he had.”
“As Noah’s condition progressed with frightening speed and his unexplained symptoms increased, doctors actually became more reluctant to help. Some suggested that if we would never know, what was the point in looking for answers? There is nothing worse than feeling helpless as a parent and having nowhere to turn. At best, we were given sympathetic looks from doctors and at worst, one doctor told us that he would see him again in a year if he was still alive.
“At the age of five, we were working with a diagnosis of mito, but we didn’t get an official name of Noah’s type until he was 7. Nothing can prepare you for being told your baby has mito, but at least with a diagnosis people wanted to help us. We have the most amazing medical team around us now.
“Noah was allergic to all food until he was 7 and relies on a tube feeding him a special formula directly into his stomach 24 hours a day 7 days a week. Even now with some safe foods it’s too exhausting to eat the amount he needs so his backpack goes with him everywhere, even to bed!
“Noah is now eight. He loves school and has wonderful mates who accept him just as he is. He relies on his wheelchair and this year even got to play wheelchair tennis at the Australian Open and go surfing.
“Despite everything, he is always smiling and trying to make others smile. He loves Star Wars and playing lego and if you ask him how he feels, he says “I choose to be happy”.”
Noah’s mum, Kat, will complete her fourth Bloody Long Walk this year.
As a baby, Alana failed to thrive and meet her milestones. She suffered 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, and has lost her hearing. 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 five year old is determined and cheerful and has a contagious laugh.
Toni has walked both Sydney routes with her team 'Act for Alana' and Alana was there to greet her at the finish line, smiling from ear to ear. This year, Toni will take on The Bloody Long Walk Canberra and will volunteer in Sydney.
Sean is the CEO of the Mito 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 a 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 Mito Foundation 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 the Mito Foundation.
Visit mito.org.au for more information about mito.