Personal Stories

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

Abbey’s Story
Chronic Idiopathic Neutropenia

Severe chronic idiopathic neutropenia impacts my life in a lot of ways.

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Danielle’s Story
Idiopathic Thrombocytopenic Purpura

I was diagnosed on Friday 26 July in 2015 by accident. I headed to hospital with chest pains.

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Janna’s Story
Ehlers-Danlos Syndrome

I have a clinical diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS).

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Kathryn’s Story
Anti-neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis

It was early 2018 when I was diagnosed with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis.

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Catherine’s Story
Primary Ciliary Dyskinesia

I was formally diagnosed with Primary Ciliary Dyskinesia (PCD) in 1980 at the age of 11.

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Jemima’s Story
Tuberous Sclerosis Complex (TSC)

I always knew that my little brother Caleb was special. He’d had two heart surgeries by the age of 7.

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Kate’s Story
Fibromuscular Dysplasia (FMD)

It was a strange sensation; a distinct but not painful feeling in my left eye which lasted for a few minutes.

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Naomi’s Story
X-linked Hypophosphatemia

I’ve always known that I’ve been different because of stares from both children and adults.

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Gabriela’s Story
SCN2A

We welcomed to the world our little warrior, Gabriela, in June 2016.

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Frankie’s Story
Acrodysostosis

Frankie was born healthy and passed all in vitro tests and her newborn checks and scans.

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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.

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Belinda’s Story
Partial Chromosonal Deletion

Belinda has an extremely rare partial chromosomal deletion.

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Dean’s Story
Epidermolysis Bullosa

When I was born, I was given a life expectancy of five. I’ve now just turned 40.

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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 Airforc

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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.

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Angelina’s Story
Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)

Angelina is four 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 an

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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.

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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.

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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.

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Andrew’s Story
Periventricular Nodular HeterotopiaPolymicrogyriaCerebellar Hypoplasia

Andrew is 28-years-old and was formally diagnosed with a complex Cortical brain malformation when he was 17 called Periventricular nodular heterotopia

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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 c

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William’s Story
Primary Ciliary DyskinesiaKartagener 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 t

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April’s Story
Addison’s Disease

My health declined for 12 months before I was diagnosed with Addison’s Disease.

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Ebony’s Story
Superior Mesenteric Artery Syndrome (SMAS)

My name is Ebony and I live with intestinal failure and require home parenteral nutrition.

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Peter’s Story
Sickle Cell Disease

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

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Lylah’s Story
Epidermolysis Bullosa

When Lylah was born, our worst fear was confirmed as soon as we laid eyes on our little girl – Lylah had Epidermolysis Bullosa (EB)

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Adam’s Story
HLA-B27 gene

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.

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Tracy’s Story
Sporadic Inclusion Body Myositis

At the end of 2016, I was changing insurance companies and the new company sent me for blood tests.

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Eva’s Story
SCN2A

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

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Tino’s Story
Imperforate Anus

In the rare disease space, we cannot underestimate the importance of international collaboration and linkages.

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Jodie’s Story
Chronic Intestinal Pseudo-Obstruction (CIPO)

I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO).

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Lily’s Story
Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI), also known as ‘Brittle Bone Disease’ or ‘Glass Bone Disease’.

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Jessica’s Story
Ehlers-Danlos Syndrome

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 (

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Louise’s Story
Relapsing Polychondritis

How to live half a life. I only live life a little bit. Not to the fullest, not with gusto and excitement.

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Grace’s Story
Idiopathic Pulmonary Hypertension

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).

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Vince’s Story
ATTR60Ala80Ala

This is a hereditary disease (ATTR60Ala and 80Ala) that progresses slowly but is incurable.

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Naomi’s Story
Mal de Debarquement Syndrome

I don’t look sick, well, mostly I suppose. Until you see me stumble… or notice that I am not around much anymore.

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