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  • Mitochondrial disease (or mito) is a debilitating genetic disorder that robs the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.

 

  • Mitochondrial diseases are devastating disorders for which there is no cure and no proven treatment.

 

  • Until the 1990s, mitochondrial disease was thought to be rare (1 in 20,000 people), but it is now recognised as the most common subgroup of inherited metabolic disorders. Recent research shows up to 20 children born in Australia each week (1 in 200 people) may carry genetic mutations that put them at risk of developing mild forms of mitochondrial disease or other related conditions such as diabetes or deafness during their lifetimes.This means 100,000 Australians may be affected by mitochondrial disease. 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. In addition, 1 Australian child born each week or 50 children every year – will develop a severe life-threatening form of mitochondrial disease (1 in 5000 people), making it the second most commonly diagnosed serious genetic disease after cystic fibrosis, which has an incidence of around 1 in 3500 people.

 

  • Half of those affected are children who show symptoms before age five, and approximately 80% of them will die before age 20. The mortality rate is roughly that of cancer. The human suffering imposed by mitochondrial and metabolic diseases is enormous, yet much work is needed to understand the genetic and environmental causes of these diseases.(Bill Copeland, Ph.D.)

 

  • Mitochondria are the energy source in almost every body cell. Often called the cells’ powerhouses or generators, mitochondria transform food to produce 90 per cent of the energy needed by the human body to function, sustain life and support growth. Mitochondria are most plentiful in tissues that require a lot of energy to function; the disease therefore causes most damage to the cells of the brain, muscles, heart, liver, inner ear, eyes and bowel.

 

  • Depending on which parts of their bodies are affected and to what degree, people with mitochondrial disease can:
    • Lose their sight or hearing
    • Suffer muscle weakness and pain
    • Become unable to walk, eat, swallow or talk normally
    • Have strokes or seizures
    • Develop liver disease or diabetes
    • Suffer heart, respiratory or digestive problems
    • Experience developmental delays or intellectual disability.

 

  • Energy has little to do with how active a person is. It is more about how the systems and  organs are powered.
    Patients may not look ill, therefore it is sometimes called the
    ‘Invisible Disease”.

 

  • Researchers increasingly believe mitochondrial dysfunction may be a significant factor in a wide range of major diseases particularly chronic degenerative disorders – including: Parkinson disease, Alzheimer’s disease, Huntington disease, Motor neurone disease, Cardiovascular disease, Diabetes and Cancer, particularly solid tumours and tumour metastasis.

 

  • The Australian Mitochondrial Disease Foundation – AMDF, was set up in 2009 by family members, friends and doctors of sufferers to fund essential research into the diagnosis, treatment & cure of mitochondrial disorders, and to support affected individuals and families.
Tom fundraising

Please Help find a Cure for MiTo…

keeping Tom and many others smiling.

 

Donations can be made to:

https://neurogenetics.everydayhero.com/au/martine
amdfchallenges.everydayhero.com/au/thomas-martin

All funds will go towards Research to find a cure, and all donations in excess of $2 are tax deductible.

kolling foundation

Kolling Foundation

AMDF Australian Mitochondrial Disease Foundation

AUSTRALIAN MITOCHONDRIAL DISEASE FOUNDATION