Fiona explained how her role as RVA's Disability Advocacy Manager was born from the need to tell the important and much-overlooked story of the intersection between rare disease and disabilities. Fiona also shared how she once counted 60 appointments between New Year and Easter and some of the progress made by RVA together with RVA Partner groups/organisations.

In memory of Ineke. My name is Ineke. Five years ago, I started to get pain in my eyes. Initially, it was on and off but then one day, it did not go away.

My name is Amber, and I live in Queensland. I was born with Netherton Syndrome, which is a form of ichthyosis.

Over the course of at least 12 months, I noticed changes in my body. I knew something was wrong. Tuesday 4 July 2023 is a day I will never forget.

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.