Sharing your personal story has benefits to the person telling the story and to those who share a similar experience. If you are willing to share your personal story of living with rare disease please tell us here.
Story of the Month
Claudette’s Story
When Claudette was just two days old, she was transferred to the Special Care Nursery with low oxygen levels.
Ashley’s Story
Three days after Ashley was born, we heard the words, "your daughter may never walk".
Fiona’s Story
Fiona delivered this speech on 11 February 2025 at Parliament House at Rare Voices Australia’s annual Rare Disease Day Parliamentary Event. I am the Disability Advocacy Manager for Rare Voices Australia (RVA), a role that was born from the need to tell the important and much-overlooked story of the intersection between rare disease and disabilities. […]
Ineke’s Story
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. I now have pain in my eyes 24/7. Sometimes the pain is at a level 10 and sometimes at a seven. I am never without […]
Amber’s Story
My name is Amber, and I live in Queensland. I was born with Netherton Syndrome, which is a form of ichthyosis. Ichthyosis is an extremely rare and incurable condition affecting one in 250,000 people worldwide. This condition makes my skin very red, dry, sore and itchy, which causes irritability and makes me prone to infections. […]
Natasha’s Story
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 as it was the day my voice was heard. A doctor finally listened to me. And then the testing began. I had endless appointments and […]
Danielle’s Story
We are the Green family, and this is our journey with a rare condition known as PPA2-associated sudden cardiac death. Leon and I met in 2017 and quickly fell in love with the hopes and dreams of starting our family. After COVID-19 made it impossible to have our wedding in 2020, we decided to have […]
Kathleen’s Story
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 at around the same time I tested negative. HD is rare, genetic, neurological and has no cure. All children born to parents who have been diagnosed, have tested positive […]
Adam’s Story
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 in 2014 by a neurologist as my gait (the pattern that you walk in) was getting larger, and I was running out of energy. In June 2022, I was […]
Bridie’s Story
I was diagnosed with Klippel-Trénaunay Syndrome at the age of 14.
Lucy’s Story
My name is Lucy. I am 49, the mother of two teens and I have Relapsing Polychondritis (RP).
Ken’s Story
My OPMD journey started 20 years earlier when I was in my 50s.
Viswanathan’s (Vishy) Story
My story begins with a routine blood test in 2007 before travelling to London on a work trip.
Leo’s Story
Leo was diagnosed with cone-rod dystrophy in April 2023 at six years of age.
Ryan’s Story
Two of my brothers, Jack and Lachy, and I were diagnosed with Hennekam Syndrome in 2015.
Sophie’s Story
In late 2021, I saw a new neurologist who diagnosed me with a neuromuscular junction disorder – most likely seronegative myasthenia gravis.
Beck’s Story
I was formally diagnosed with Spinocerebellar Ataxia Type 36 (SCA36) in 2020 at age 46.
Laura’s Story
In early 2021, I was diagnosed by accident with Fibrous Dysplasia (FD)/McCune Albright Syndrome (MAS).
Renae’s Story
I was diagnosed with Epidermolysis Bullosa; the obstetrician noticed I was missing skin on my feet, the front of my legs and the inside of my arms.
Ava’s Story
At 16 days old, Ava was diagnosed with Maple Syrup Urine Disease (MSUD).
Lachy’s Story
I was diagnosed with Juvenile Dermatomyositis (JDM) when I was three years old.
Gisele’s Story
After initially being misdiagnosed based on Gigi's genetic results, we finally received the correct diagnosis of Mosaic trisomy 20.
Vanessa’s Story
I was born in Wollongong, New South Wales in 1971. I was induced as I was two weeks overdue and severely jaundiced at birth. My mother and father had Rh- and O+ blood types. I had a blood transfusion and was christened at birth. I was eventually diagnosed with congenital panhypopituitarism at 13. After a […]
Matthew’s Story
I was diagnosed at the age of three after a trip to the local general practitioner where the dark spots on my lips were noticed.
Jacob’s Story
It was July 2020 and our son, Jacob, was 21 months old when his epilepsy journey began.
Claudia’s Story
In 2013, I was diagnosed with an autoimmune disease called scleroderma that, on average, affects 6,000 Australians.
Adrian’s Story
In 2021, I turned 50-years-old and decided it was time something was done about Poland Syndrome.
Emma’s Story
Emma is one of eight children in Australia with a rare condition called Ohdo syndrome.
Abbey’s Story
Severe chronic idiopathic neutropenia impacts my life in a lot of ways.
Danielle’s Story
I was diagnosed on Friday 26 July in 2015 by accident. I headed to hospital with chest pains.
Janna’s Story
I have a clinical diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS).
Kathryn’s Story
It was early 2018 when I was diagnosed with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis.
Catherine’s Story
I was formally diagnosed with Primary Ciliary Dyskinesia (PCD) in 1980 at the age of 11.
Jemima’s Story
I always knew that my little brother Caleb was special. He’d had two heart surgeries by the age of 7.
Kate’s Story
It was a strange sensation; a distinct but not painful feeling in my left eye which lasted for a few minutes.
Naomi’s Story
I’ve always known that I’ve been different because of stares from both children and adults.
Gabriela’s Story
We welcomed to the world our little warrior, Gabriela, in June 2016.
Frankie’s Story
Frankie was born healthy and passed all in vitro tests and her newborn checks and scans.
Tim’s Story
My name is Tim and I was formally diagnosed with Adult-onset Still’s disease (Still’s disease) in 2016 at the age of 22.
Belinda’s Story
Belinda has an extremely rare partial chromosomal deletion.
Dean’s Story
When I was born, I was given a life expectancy of five. I’ve now just turned 40.
Tim’s Story
Back in 2014, I was a super-fit 40-year-old who had left life as a personal trainer and Ironman Triathlete behind to join the Royal Australian Airforc
Lloyd’s Story
Our journey began when Lloyd was around eight months old. We noticed something ‘wasn’t quite right’ developmentally with Lloyd.
Angelina’s Story
- Calcium/calmodulin dependent Serine protein Kinase (CASK)-related disorders
- Corpus Callosum Disorders
Angelina is six years old. Her smile lights up her mummy and daddy’s heart each day.
Hudson’s Story
Meet Hudson, a typical toddler with idiopathic thrombocytopenic purpura (ITP). Learn about his journey through the eyes of his parents.
Damian’s Story
My name is Damian Slater and in 2008, I was diagnosed with Inclusion Body Myositis (IBM) at 35 years of age – just six months after I was married.
Brooke’s Story
Most stories about Fibrodysplasia Ossificans Progressiva (FOP) start from a young age. My story is different. I was diagnosed at the age of 29.
Andrew’s Story
Andrew is 28-years-old and was formally diagnosed with a complex Cortical brain malformation when he was 17 called Periventricular nodular heterotopia
Lachy’s Story
Genetic testing unveiled a mutation on the SCN2A gene which is almost certainly causing Lachy’s severe autism, intellectual disability and hypotonic c
William’s Story
Primary Ciliary Dyskinesia (PCD)is an inherited disorder of the moving cilia. Mummy found out I had this disorder 24 hours after I was born as I had t
April’s Story
My health declined for 12 months before I was diagnosed with Addison’s Disease.
Ebony’s Story
My name is Ebony and I live with intestinal failure and require home parenteral nutrition.
Peter’s Story
It was in 1963 at the age of three years old that I was diagnosed with Sickle Cell Anaemia. I spent a lot of time in and out of hospital with my paren
Lylah’s Story
When Lylah was born, our worst fear was confirmed as soon as we laid eyes on our little girl - Lylah had Epidermolysis Bullosa (EB)
Adam’s Story
As a 36-year-old young man who has endured a lifetime of physical skeletal pain, trying to live a normal life has been rather impossible.
Tracy’s Story
At the end of 2016, I was changing insurance companies and the new company sent me for blood tests.
Eva’s Story
On the 21st December, 2015 Eva was born. Instantly, things were not right. I was laying awake in the hospital listening to other babies cry but mine d
Tino’s Story
In the rare disease space, we cannot underestimate the importance of international collaboration and linkages.
Jodie’s Story
I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO).
Lily’s Story
Osteogenesis Imperfecta (OI), also known as ‘Brittle Bone Disease’ or ‘Glass Bone Disease’.
Jessica’s Story
My name is Jessica. I was diagnosed at 8-years-old with a rare disease called Ehlers-Danlos syndrome type 6 or Kyphoscoliotic Ehlers-Danlos Syndrome (
Louise’s Story
How to live half a life. I only live life a little bit. Not to the fullest, not with gusto and excitement.
Grace’s Story
I'm submitting this story for my daughter Grace who is 9-years-old. Grace was diagnosed in October 2017 with idiopathic pulmonary hypertension (IPH).
Vince’s Story
This is a hereditary disease (ATTR60Ala and 80Ala) that progresses slowly but is incurable.
Naomi’s Story
I don’t look sick, well, mostly I suppose. Until you see me stumble... or notice that I am not around much anymore.
