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
![Image of a woman in front of a window with her back turned](https://rarevoices.org.au/wp-content/uploads/2024/07/KathleenStory.png)
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 […]
![Image of Adam](https://rarevoices.org.au/wp-content/uploads/2024/05/AdamStory.png)
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 […]
![](https://rarevoices.org.au/wp-content/uploads/2024/04/Bridie.png)
Bridie’s Story
I was diagnosed with Klippel-Trénaunay Syndrome at the age of 14.
![](https://rarevoices.org.au/wp-content/uploads/2024/03/Lucy_Story.png)
Lucy’s Story
My name is Lucy. I am 49, the mother of two teens and I have Relapsing Polychondritis (RP).
![](https://rarevoices.org.au/wp-content/uploads/2023/11/Ken_RVA.png)
Ken’s Story
My OPMD journey started 20 years earlier when I was in my 50s.
![Vishy smiling at the camera](https://rarevoices.org.au/wp-content/uploads/2023/10/Vishy_Watemark.png)
Viswanathan’s (Vishy) Story
My story begins with a routine blood test in 2007 before travelling to London on a work trip.
![](https://rarevoices.org.au/wp-content/uploads/2023/08/Leo.png)
Leo’s Story
Leo was diagnosed with cone-rod dystrophy in April 2023 at six years of age.
![](https://rarevoices.org.au/wp-content/uploads/2023/07/Ryan.png)
Ryan’s Story
Two of my brothers, Jack and Lachy, and I were diagnosed with Hennekam Syndrome in 2015.
![](https://rarevoices.org.au/wp-content/uploads/2023/01/SophiesStory.png)
Sophie’s Story
In late 2021, I saw a new neurologist who diagnosed me with a neuromuscular junction disorder – most likely seronegative myasthenia gravis.
![](https://rarevoices.org.au/wp-content/uploads/2022/11/BeckWebber.png)
Beck’s Story
I was formally diagnosed with Spinocerebellar Ataxia Type 36 (SCA36) in 2020 at age 46.
![](https://rarevoices.org.au/wp-content/uploads/2022/10/Laura_PersonalStory.png)
Laura’s Story
In early 2021, I was diagnosed by accident with Fibrous Dysplasia (FD)/McCune Albright Syndrome (MAS).
![](https://rarevoices.org.au/wp-content/uploads/2022/09/Renae_Wood.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2022/08/AvaStory.png)
Ava’s Story
At 16 days old, Ava was diagnosed with Maple Syrup Urine Disease (MSUD).
![](https://rarevoices.org.au/wp-content/uploads/2022/07/Lachy.png)
Lachy’s Story
I was diagnosed with Juvenile Dermatomyositis (JDM) when I was three years old.
![](https://rarevoices.org.au/wp-content/uploads/2022/06/Gigi.png)
Gisele’s Story
After initially being misdiagnosed based on Gigi's genetic results, we finally received the correct diagnosis of Mosaic trisomy 20.
![](https://rarevoices.org.au/wp-content/uploads/2022/05/Vanessa_April2022.png)
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 […]
![](https://rarevoices.org.au/wp-content/uploads/2022/04/Joan.png)
![](https://rarevoices.org.au/wp-content/uploads/2022/03/Matthew.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2022/02/JacobStory.png)
Jacob’s Story
It was July 2020 and our son, Jacob, was 21 months old when his epilepsy journey began.
![](https://rarevoices.org.au/wp-content/uploads/2021/12/Claudia_V2.png)
Claudia’s Story
In 2013, I was diagnosed with an autoimmune disease called scleroderma that, on average, affects 6,000 Australians.
![](https://rarevoices.org.au/wp-content/uploads/2021/12/Adrian.png)
Adrian’s Story
In 2021, I turned 50-years-old and decided it was time something was done about Poland Syndrome.
![](https://rarevoices.org.au/wp-content/uploads/2021/11/EmmaStory.png)
Emma’s Story
Emma is one of eight children in Australia with a rare condition called Ohdo syndrome.
![](https://rarevoices.org.au/wp-content/uploads/2021/08/Abbey.png)
Abbey’s Story
Severe chronic idiopathic neutropenia impacts my life in a lot of ways.
![](https://rarevoices.org.au/wp-content/uploads/2021/08/Danielle.png)
Danielle’s Story
I was diagnosed on Friday 26 July in 2015 by accident. I headed to hospital with chest pains.
![](https://rarevoices.org.au/wp-content/uploads/2021/08/Janna.png)
Janna’s Story
I have a clinical diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS).
![](https://rarevoices.org.au/wp-content/uploads/2021/07/Kathryn.png)
Kathryn’s Story
It was early 2018 when I was diagnosed with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis.
![](https://rarevoices.org.au/wp-content/uploads/2021/06/Cathryn.png)
Catherine’s Story
I was formally diagnosed with Primary Ciliary Dyskinesia (PCD) in 1980 at the age of 11.
![](https://rarevoices.org.au/wp-content/uploads/2021/05/Jemimah.png)
Jemima’s Story
I always knew that my little brother Caleb was special. He’d had two heart surgeries by the age of 7.
![](https://rarevoices.org.au/wp-content/uploads/2021/04/Kate.png)
Kate’s Story
It was a strange sensation; a distinct but not painful feeling in my left eye which lasted for a few minutes.
![](https://rarevoices.org.au/wp-content/uploads/2021/03/naomi.png)
Naomi’s Story
I’ve always known that I’ve been different because of stares from both children and adults.
![](https://rarevoices.org.au/wp-content/uploads/2021/02/Gaba.png)
Gabriela’s Story
We welcomed to the world our little warrior, Gabriela, in June 2016.
![](https://rarevoices.org.au/wp-content/uploads/2021/01/Frankie.png)
Frankie’s Story
Frankie was born healthy and passed all in vitro tests and her newborn checks and scans.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Tim-1-e1607565379924.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/belinda.png)
Belinda’s Story
Belinda has an extremely rare partial chromosomal deletion.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Dean.png)
Dean’s Story
When I was born, I was given a life expectancy of five. I’ve now just turned 40.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Tim.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Lloyd.png)
Lloyd’s Story
Our journey began when Lloyd was around eight months old. We noticed something ‘wasn’t quite right’ developmentally with Lloyd.
![](https://rarevoices.org.au/wp-content/uploads/2020/07/Angelina_Updated.png)
Angelina’s Story
- Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)
- Disorder of the Corpus Callosum (DCC)
Angelina is six years old. Her smile lights up her mummy and daddy’s heart each day.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Hudson.png)
Hudson’s Story
Meet Hudson, a typical toddler with idiopathic thrombocytopenic purpura (ITP). Learn about his journey through the eyes of his parents.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Damian.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Brooke.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Andrew.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Lachlan.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/William.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/april.png)
April’s Story
My health declined for 12 months before I was diagnosed with Addison’s Disease.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/ebony.png)
Ebony’s Story
My name is Ebony and I live with intestinal failure and require home parenteral nutrition.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/pater.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/lylah.png)
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)
![](https://rarevoices.org.au/wp-content/uploads/2020/11/adam.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/tracy.png)
Tracy’s Story
At the end of 2016, I was changing insurance companies and the new company sent me for blood tests.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/Eva.png)
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
![](https://rarevoices.org.au/wp-content/uploads/2020/11/tino.png)
Tino’s Story
In the rare disease space, we cannot underestimate the importance of international collaboration and linkages.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/jodi.png)
Jodie’s Story
I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO).
![](https://rarevoices.org.au/wp-content/uploads/2020/11/lily.png)
Lily’s Story
Osteogenesis Imperfecta (OI), also known as ‘Brittle Bone Disease’ or ‘Glass Bone Disease’.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/jessica.png)
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 (
![](https://rarevoices.org.au/wp-content/uploads/2020/11/louise.png)
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.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/grace.png)
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).
![](https://rarevoices.org.au/wp-content/uploads/2020/11/vince.png)
Vince’s Story
This is a hereditary disease (ATTR60Ala and 80Ala) that progresses slowly but is incurable.
![](https://rarevoices.org.au/wp-content/uploads/2020/11/naomi.png)
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.