Smashing the Diagnostic Odyssey

At a Mito Information Day, Carolyn Bursle spoke about the diagnostic process; what progress have we made in mitochondrial disease diagnostics and what the future may hold.

 

 

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Link to Understanding epilepsy and seizures in mito Video

Understanding epilepsy and seizures in mito

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Prof Mary Kay Koenig discusses the most common seizures found in children and adults with mito, reviews how and why seizures occur, and the treatment and precaution recommendations.

Link to Understanding genetics and getting a genetic diagnosis Video

Understanding genetics and getting a genetic diagnosis

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Emma Celis and Prof David Thorburn break down the complexity of genetics to help you know the different types of variants that apply to mito. They then talk through a range of genetic testing options available and explore how and where to access genetic testing.

Link to Understanding and managing pain Video

Understanding and managing pain

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Prof Toby Newton-John is a Professor of Clinical Psychology and a practising Clinical Psychologist. In this video, Prof Newton-John discusses why we feel pain, the impacts of chronic pain, and the importance of pain management in maintaining quality of life.

Link to Understanding the causes of mito to improve diagnosis Video

Understanding the causes of mito to improve diagnosis

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Prof Zofia Chrzanowska-Lightowlers discussed how her team compares healthy cells against cells of people with various mitochondrial conditions to help uncover what causes mito and guide clinicians to tailor management strategies for individuals impacted by mito.

Link to Understanding and managing fatigue in mito Video

Understanding and managing fatigue in mito

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Dr Christina Liang is a Neurologist with an interest in neuromuscular conditions. In this video, she discusses fatigue, a common symptom in mito; how and why fatigue presents, and ways to manage energy effectively.

Link to What to do when you are sick Video

What to do when you are sick

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At the 2022 AussieMit Community Summit, Prof Mary Kay Koenig describes what happens to your mitochondria when you get sick and discussed how to reduce the need to go to hospital.

Link to The Australian Patient Care Standards in practice Video

The Australian Patient Care Standards in practice

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At the 2022 AussieMit Community Summit, Prof Carolyn Sue AM discusses the Australian Patient Care Standards for primary mitochondrial disease published in late 2021. These standards were developed by Prof Sue and a group of 21 mitochondrial healthcare providers to guide health professionals to offer the best possible care for people impacted by mito.

Link to Mitochondrial Donation Update - November 2022 Video

Mitochondrial Donation Update - November 2022

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This webinar shared details of the progress towards making mitochondrial donation available in Australia and discussed topics you may want to explore with your family and health professionals.

Link to GP Webinar - Identifying mitochondrial disease Video

GP Webinar - Identifying mitochondrial disease

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In this GP resource, metabolic geneticist Dr Shanti Balasubramaniam explores the multiple organ systems involved in mito and outlines how to identify “red flag” symptoms.

Link to Mito In Children: What To Expect Video

Mito In Children: What To Expect

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At a Mito Information Day, Dr Maina Kava spoke about the challenges of receiving a diagnosis of mito for a child and that every case of mito will be different. Dr Maina Kava shared what can be expected when a child is diagnosed with mito.