Jill Hall (Shortland, Australian Labor Party) Share this | Hansard source

I would like to congratulate the member for Cook for bringing this very important motion to the House. This is an opportunity to raise awareness of mitochondrial disease, to make people aware that it is quite common and that it is very debilitating. I would like to add my support to his motion, to congratulate the mitochondrial society of Australia on the work they do and to pledge my support to help them in any way I possibly can. This week, 16 to 22 September, is Global Mitochondrial Disease Awareness Week. The aim is to raise awareness of the disease amongst the community—and the medical profession, since one of the issues with the disease is that doctors do not immediately look for it. Mitochondrial disease is an incurable disorder which saps energy from the cells in our body with debilitating effects. It is a disease referred to as the 'notorious masquerader' because it mimics many other illnesses in both children and adults.

Five years ago, the term 'mitochondrial disease' did not seem to exist. It is a little-known disease which many people, including GPs as mentioned, are still not fully aware of. It is not, however, a new condition but one with a history of misdiagnosis due to the variety of symptoms associated with the disease—I will go through those symptoms a little later. Our bodies are made up of cells and the mitochondria are the batteries of those cells—providing them with energy. Mitochondria take in energy from the food we eat and that energy is then used to power the nucleus and hence control the cells in our bodies.

Mitochondria are themselves very complex organelles and each one requires over 1,400 genes to create. Mitochondrial disease is a genetic fault in the mitochondria—a hiccup in the production of mitochondria from the time of conception. Due to this gene fault, some mitochondria grow abnormally. How many unhealthy mitochondria develop varies greatly from cell to cell and organ to organ. Mitochondrial disease is best summarised in the phrase 'any organ, any symptom, any age'. This is because mitochondria are found everywhere in the body, so mitochondrial disease can present differently in each and every person.

New presentations of this disease are still appearing regularly. We presently know of around 100 different types of mitochondrial disease and there is potential for more. The severity of the effect on body function depends on many things, including the location of the mitochondrial defect in the body and the number of unhealthy mitochondria. Some mitochondrial disorders only affect a single organ, although most involve multiple organs. The organ systems which work the hardest and the longest in our body, and thus supply the most energy, are the most affected by mitochondrial disease.

Mitochondrial disease is characterised by a multiplicity of symptoms, varying in type and severity, so making diagnosis extremely difficult. A person with advanced mitochondrial disease may present with many symptoms, while a healthy person suffering this silent genetic defect may present none at all. I heard the member for Cook talk about how his constituents worry about the fact that, whilst they are currently free of this disease, they may develop it in future. People who share the same genetic defect can also present with different symptoms. So you can see why it is called a masquerader.

Diagnosis of mitochondrial disease is problematic because it looks like so many other illnesses. The common symptom is fatigue—not the common type you feel after you have had a long and hard day, but a fatigue which feels like hitting a wall. If a person is well rested, they may feel as though they have normal energy levels. When mitochondria are working hard, a person can experience extreme fatigue, often struggling to get out of bed. These fluctuations in fatigue often make it hard for a person to present their case to the doctor. There are many different symptoms. They can vary considerably. When symptoms arise in three or more organs, the possibility of mitochondrial disease should definitely be considered. Poor growth; failure to thrive; muscle weakness; poor coordination, sensory, vision and hearing problems; reduced mental functioning; disease of organs such as the heart and deliver, which is very common; dementia—we heard about that from the member for Cook—respiratory problems; hypoglycaemia; apnoea; lactic acid disorders; seizure; gastrointestinal disorders and swallowing difficulties; developmental delays; movement disorders such as dystonia, muscle spasms and tremors; stroke; diabetes; and brain atrophy are some of the very different ways that mitochondrial disease can affect people.

This disease is nearly as common as childhood cancer and yet I suspect if you were to ask people in the community about mitochondrial disease you would find that not very many people know about it. One in 4,000 children born in the United States every year will develop mitochondrial disease by the age of 10. In adults, many diseases of the ageing can be attributed to defects in mitochondrial functioning.

As I have already said, this is a disease that has enormous impacts, and it is a disease for which there is no cure. Some of the treatments include trying to remove stressors and taking vitamins, but there is research taking place at the moment into trying to solve the puzzle. As has already been mentioned, diagnosing the disease is difficult and for practitioners it is often like putting together the pieces of a jigsaw puzzle. It is a process that begins with the family GP and progresses to a mitochondrial specialist.

Considering the possibility of mitochondrial disease is the most difficult part. GPs recommend that mitochondrial disease be suspected when a common disease has atypical features and/or three or more organ systems are involved and there are recurrent setbacks or flare-ups with infections in a normal chronic illness. Basic investigations such as blood tests and eye and hearing tests can be used to begin diagnosis and they can be followed up with tests in individual organs. However, genetic testing is not a practical tool for diagnosis of mitochondrial disease given that each of the 1,400 genes which make up a single mitochondria would potentially have to be tested. It is usually up to the right specialist to make a clinical diagnosis based on the symptoms and the results of investigations. Mitochondrial disease is also being increasingly linked with mainstream illnesses. Relatively little is known about this very serious and very common disease.

The other part of the motion refers to World Stay in Bed Day, which is this Sunday, 23 September. For many of us thinking about staying in bed, this will be an opportunity to indulge in a guilt-free lazy Sunday, but for people suffering from mitochondrial disease it demonstrates a fact of life. We can join with those people and have, as the member for Cook suggested, a pyjama party, or we can simply think about the great impact that mitochondrial disease has on people. (Time expired)

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