27/02/2025
Pompe disease, a genetic metabolic, disease affecting skeletal muscle, breathing and sometimes the heart, is one of the rare diseases.
Currently, there are only around 80 people diagnosed in the whole of Australia, including Dr Gavin and Franβs son.
Rare diseases are often misdiagnosed, or undiagnosed.
Promoting awareness is key for the rare disease community globally
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28 February - the rarest day of the year - is Rare Disease Day.
Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
By sharing your colours via social media, events, illuminating buildings, monuments and homes, by sharing experiences online and with friends, by calling on policy makers and shining the light on people living with a rare disease, collectively we aim to change and improve lives of the 300 million people worldwide.
Be sure to share your Pompe Journey and help raise awareness for Rare Disease day and health equity.
