- 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.
We have formed a new foundation.AUSTRALIAN MITOCHONDRIAL DISEASE MEDICAL NETWORK LTD (Mito Medical Network) every donation will help. Thank you in advance for your contribution to this cause that means so much to me.
Although mitochondrial disease was first conceptualised around 1960, the complexities that cloud the clinical, diagnostic, and genetic characteristics of this illness has markedly hindered our progress in its understanding since. From the onset of first symptoms, whilst journeying through the diagnostic odyssey towards the complex conclusion that rests in the cavern of treatment options, the management of the mitochondrial patient has developed into a fragmented array of perplexities.
The Mito Medical Network is a newly formed professional body for specialists and medical practitioners working in the area of mitochondrial disease. Inclusive of clinical researchers, nurses, allied health and other healthcare professionals, our network, through affiliating and therefore unifying all those managing the mitochondrial patient nationally, strives to advance their daily medical care.
Advancing the clinical management of the mito community is paramount to our purpose, vision and goals, and is to be achieved through bettering medical awareness, education, standards and clinical research networking, whilst advocating to all key stakeholders in the patient’s medical care.
As we develop our website and network, we thank you for your patience and generous support.This is the website link although still being developed…http://mitomedicalnetwork.org.au/