Diagnostics changes from genomics and new technology
At a Perth Mito Information Day, Prof. David Thorburn provided an overview of the causes of mitochondrial disease and how the diagnostic process has been changed by genomics and other new technologies. David will discuss the value of an accurate genetic diagnosis in guiding clinical management and potential treatment options, enabling participation in clinical trials and identifying familial risks and reproductive options.
Download the presentation slides here.
Transition – moving to adult health careView Video
Rachael Havrlant (Transition Care Network) spoke about the transition from paediatric care to adult care. She covered the basics and touched on the surprises people may face as they move to adult care. She also covered the difficulties children can face during the transition phase and how their families/carers can support them to have a better experience.
Pathways to diagnostic testing for mito in childrenView Video
Dr Balasubramaniam spoke at a Mito Information Day on the pathways to genetic tests for children.
She delved into the barriers that families often face when considering genetic testing and gave valuable insights into what families should be aware of before making the decision to pursue genetic testing.
Mito Connect Call - Peer Support NetworkView Video
This Mito Connect Call introduces the Mito Foundation Peer Support Network. The network offers one-on-one support for mito community members. We know that sometimes the best support comes from someone who has similar experiences to you. Watch this recording to learn more about the Peer Support Network, including how to access it.
Understanding genetics and getting a genetic diagnosisView Video
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.
Understanding and managing painView Video
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.