1. How did you first become involved with the mitochondrial disease community and what led you to the Mito Foundation?

I first learnt of mitochondrial disease (mito) when my brother was diagnosed with MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) in 1998. That provided answers to what had been generations of health problems in my family.

Following that period, I participated in some clinical research studies into the effects of exercise on mito, led by Professor Carolyn Sue – one of Australia’s leading clinical experts in mito.

It was through Professor Sue that I was introduced to Mito Foundation’s founder, Dr Doug Lingard, about ten years later. Doug’s daughter Rose had recently presented with symptoms and he identified the need to drive research so started the foundation. I’ve been involved since the very start.

 

  1. Tell us about the Mito Foundation and how it is driving change for individuals and families living with mitochondrial disease.

Mito Foundation is the only organisation dedicated to supporting and empowering people affected by mito in Australia. The foundation provides resources and support services for patients and their families while increasing awareness and understanding of mito.

The foundation aims to transform outcomes for the mito community by driving meaningful change and funding essential research into the prevention, diagnosis, treatment, and cures of mitochondrial disorders.

 

  1. Why is it so important for organisations like the Mito Foundation to support and fund mitochondrial research?

Currently, there are no effective treatments or cures for mito, and the diagnostic journey is often long and overwhelming for families who simply want an answer. Supporting world-class research is the best avenue to remedy this and offer much-needed hope to the mito community.

Over the past 12 years, Mito Foundation has committed more than $7 million toward research to advance understanding mito mechanisms, improve diagnosis, treatment, care and management practices and advance prevention and therapeutic strategies. Beyond funding, Mito Foundation connects eligible mito community members to clinical trials and patient studies via the Mito Registry; this ensures that the community’s voice is present in these projects.

 

  1. Have you seen a change in awareness of mitochondrial disease since you first became involved in the community? In Australia? Globally?

In the early days of my involvement with Mito Foundation, there was very little awareness about mito. This was notable in the medical community, where some were resistant to the existence of mito. Clinicals trials were also sparse, due to the lack of investment in mito research.

Although there is still work to do, I am delighted to see an increased understanding of mito. Thousands of Australians participate in our fundraising series The Bloody Long Walk, and throughout their journey, they are introduced to mito and the families it impacts. Medical professionals have a better understanding of mito (including how to identify and treat it) through professional development tools, and resources the foundation developed.

Outside of Australia, the global effort has been phenomenal. World Mitochondrial Disease Week seems to get bigger and bigger with each passing year. Countless monuments light up green to show their support, communities gather to share their experiences, and many members of the public are introduced to mito – potentially for the very first time! 

 

  1. What are your hopes for the future for the mitochondrial disease community?

Mito Foundation’s vision is that every Australian can access treatments and cures for mito. It’s a long road to achieve this vision, but we’ve already seen glimmers of hope. Just this year, legislation passed in Australia allowing mitochondrial donation. This IVF-based technique offers real hope for families with certain forms of mito to have healthy children of their own. 

Mito Foundation continues to advocate for health system changes in Australia, knowing it will bring meaningful change to families impacted by mito.

 

  1. What advice would you give to patients and families affected by mitochondrial disease?

Knowledge is power. With the diversity and complexity of mito, even within one family, having a knowledge of one’s diagnosis and options for symptom management, and taking a proactive approach to lifestyle management, seems to hold patients and families in the best possible stead.

I would also advise to take as active a role as possible in advocating for the best possible care. Don’t be afraid to ask questions – I’ve generally found that doctors and scientists are so very generous with sharing their life’s work!