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
Nothing Found
Gabriela’s Story
- SCN2A
We welcomed to the world our little warrior, Gabriela, in June 2016. When I first held her in my arms, all I wanted to do was protect her.
Frankie’s Story
- Acrodysostosis
Francesca (Frankie) lives with Acrodysostosis type 2, a rare genetic condition that affects her growth, development, and many parts of her body.
Tim’s Story
- Still's Disease
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
- Partial Chromosonal Deletion
Belinda has a partial chromosomal deletion and is known to be one of the few individuals with this deletion in the world.
Dean’s Story
- Epidermolysis Bullosa
When I was born, I was given a life expectancy of five. I’ve now just turned 40. In those 40 years I’ve lived with extreme chronic wounds.
Tim’s Story
- Guillain-Barre Syndrome
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 Airforce (RAAF) as an aviation fire fighter.
Lloyd’s Story
- IQSEC2 Gene Mutation
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
Angelina is six years old. Her smile lights up her mummy and daddy’s heart each day. Behind her smile is a little girl fighting to walk, talk, eat, play and control her emotions.
Hudson’s Story
- Idiopathic thrombocytopenic purpura
Meet Hudson, a typical toddler with idiopathic thrombocytopenic purpura (ITP). Learn about his journey through the eyes of his parents.
Damian’s Story
- Inclusion Body Myositis
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
- Fibrodysplasia Ossificans Progressiva (FOP)
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
- Periventricular Nodular Heterotopia
- Polymicrogyria
- Cerebellar Hypoplasia
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
- SCN2A
Genetic testing unveiled a mutation on the SCN2A gene which is almost certainly causing Lachy’s severe autism, intellectual disability and hypotonic cerebral palsy.
William’s Story
- Kartagener Syndrome
- 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 trouble breathing.
April’s Story
- Addison’s Disease
My health declined for 12 months before I was diagnosed with Addison’s Disease. It started slowly, and doctors told me I needed more sleep, that I’m just run down.
Ebony’s Story
- Superior Mesenteric Artery Syndrome (SMAS)
My name is Ebony and I live with intestinal failure and require home parenteral nutrition.
