We are the Green family, and this is our journey with a rare condition known as PPA2-associated sudden cardiac death.

This is a story of my family’s experience with Huntington’s disease (HD). I am the oldest child with three siblings who were all diagnosed with HD.

Never say never… It was suggested I place part of my story on paper as it may help other people with spinocerebellar ataxia.

I was diagnosed with Klippel-Trénaunay Syndrome (KTS) at the age of 14, having enjoyed a full and active life until then.

Lucy’s story highlights how “… having a diagnosis was so much better than not knowing.” She shares that her doctors had never seen a case of Relapsing Polychondritis and the impact of living with a rare disease on her family and friends. Lucy also highlights the importance of being surrounded by medical professionals willing to work with her to achieve the best outcomes. Lucy is also a RVA Ambassador.

The day I lost my balance at a Coles supermarket checkout and went sprawling on the floor in front of dozens of onlookers, was the day I realised that oculopharyngeal muscular dystrophy (OPMD) had finally caught up with me, and that I needed to make major adjustments to my life.

My story begins with a routine blood test in 2007 before travelling to London on a work trip.

Leo was diagnosed with cone-rod dystrophy in April 2023 at six years of age.

Ryan shares his experience growing up in regional Queensland with a rare disease, and his unique perspective as a budding scientist on a mission to find the cure to his own condition.

In late 2021, I saw a new neurologist who diagnosed me with a neuromuscular junction disorder – most likely seronegative myasthenia gravis.

Beck was diagnosed with Spinocerebellar Ataxia Type 36 (SCA36) at the age of 46. She shares how reconnecting with her past passions has given her purpose in life. Since, Beck has won several state and national equine sport championship titles, and is looking to compete at the World Equestrian Games.

Having the right specialist looking after me has made all the difference to my life. All I want is for everyone else to have a clear pathway from diagnosis to care so that everyone can live their best lives.

Renae lives with Epidermolysis Bullosa (EB), a condition that causes fragile, blistering skin that tears easily and scars. The gene fault that caused Renae's EB is also responsible for her diagnosis of alopecia and dilated cardiomyopathy. Renae hopes to empower people to share their stories, so that we are reminded that we are not alone but part of one brave community!

Ava was born and diagnosed in 2017 with Maple Syrup Urine Disease (MSUD). Ava's mother, Tammie says it's been a very big learning journey but one in which her family has managed to find their feet and are now ready to have their voices heard regarding important issues such as inclusion, research, cures and more.

I was diagnosed with Juvenile Dermatomyositis (JDM) when I was three years old. JDM is a juvenile form of Myositis, a rare group of autoimmune diseases affecting the muscles.

After initially being misdiagnosed based on Gigi's genetic results, we finally received the correct diagnosis of Mosaic trisomy 20.