I was diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH) and aplastic anaemia in July 2024.

Gabby was diagnosed with Takayasu arteritis seven years ago. Her mother, Rebecca, shares her personal story, sharing the challenges the family experienced while navigating the healthcare system and the importance of care coordination. Rebecca's story also reiterates how people living with a rare disease often become experts in their condition.

Rosa shares her experience of moving to Australia to access healthcare after being diagnosed with a rare disease. Her story highlights the importance of equity. Rosa shares, "Australia did not cure my Paroxysmal Nocturnal Hemoglobinuria (PNH), but it gave me access to treatment—and with that, the ability to plan, to study, to build and to continue. Disease may be rare, but access to care should not be."

Archie's story highlights the medical complexity typically evident in rare disease and the impact that genetic testing and a diagnosis can have. As Archie says, "I’ve been told I’m quite resilient, and people have said some lovely things about how I’ve remained positive, but it’s been a long story. But it’s a story with a good ending." Archie is also an RVA Ambassador.

My ‘systemic advocacy’ first began as a rare disease mum back in 2008. Nicole writes about her experience trying to gain access to treatment for her son who was seven at the time. She goes on to share her learnings about advocacy and more about her involvement in health technology assessment now as RVA's CEO.

Natasha shares both the relief of receiving a diagnosis and the challenges of navigating the rare disease landscape. She highlights how active advocacy and supporting others in the rare disease community has given her purpose and hope. "I decided I wouldn’t wait for the storm to end; I would learn to dance through it." Natasha is also a Rare Voices Australia (RVA) Ambassador.

Ryan shares his journey to diagnosis and the challenges of living with two rare diseases. He reflects on how his greatest strength has come through purpose and community. As a Rare Voices Australia (RVA) Ambassador, he aims to inspire others through his journey.

Diane shares how being diagnosed with mitochondrial disease alongside her children impacted her health and career path. Now a passionate advocate for disability rights and systemic change, she draws on her PhD research, which explores the experiences of individuals in families with a life-limiting or chronic condition. Diane is also an RVA Ambassador.

Lauren's story highlights the importance of genetic testing as well as early diagnosis and intervention in rare disease. Drawing on her professional expertise and lived experience as Sage’s mum and caregiver, Lauren is dedicated to advocating for the rare disease community. Lauren is also a RVA Ambassador.

Claudette’s story highlights the importance of early diagnosis and the long-term impacts of living with a rare disease.

Three days after Ashley was born, we heard the words, "your daughter may never walk". At four, Ashley was eventually diagnosed with Beck-Fahrner syndrome, a rare genetic condition. Ashley’s story illustrates how difficult the pathway to a diagnosis can be and how living with a rare disease impacts every aspect of a family’s life.

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.