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
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.
In late 2021, I saw a new neurologist who diagnosed me with a neuromuscular junction disorder – most likely seronegative myasthenia gravis.
I was formally diagnosed with Spinocerebellar Ataxia Type 36 (SCA36) in 2020 at age 46.
In early 2021, I was diagnosed by accident with Fibrous Dysplasia (FD)/McCune Albright Syndrome (MAS).
Maple Syrup Urine Disease (MSUD)
At 16 days old, Ava was diagnosed with Maple Syrup Urine Disease (MSUD).
I was diagnosed with Juvenile Dermatomyositis (JDM) when I was three years old.
Mosaic Trisomy 20
After initially being misdiagnosed based on Gigi’s genetic results, we finally received the correct diagnosis of Mosaic trisomy 20.
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.
It was July 2020 and our son, Jacob, was 21 months old when his epilepsy journey began.
In 2013, I was diagnosed with an autoimmune disease called scleroderma that, on average, affects 6,000 Australians.
In 2021, I turned 50-years-old and decided it was time something was done about Poland Syndrome.
Emma is one of eight children in Australia with a rare condition called Ohdo syndrome.
Chronic Idiopathic Neutropenia
Severe chronic idiopathic neutropenia impacts my life in a lot of ways.
Idiopathic Thrombocytopenic Purpura
I was diagnosed on Friday 26 July in 2015 by accident. I headed to hospital with chest pains.
I have a clinical diagnosis of hypermobile Ehlers-Danlos Syndrome (hEDS).
Anti-neutrophil Cytoplasmic Antibody (ANCA) Associated Vasculitis
It was early 2018 when I was diagnosed with anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis.
Primary Ciliary Dyskinesia
I was formally diagnosed with Primary Ciliary Dyskinesia (PCD) in 1980 at the age of 11.
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.
Fibromuscular Dysplasia (FMD)
It was a strange sensation; a distinct but not painful feeling in my left eye which lasted for a few minutes.
I’ve always known that I’ve been different because of stares from both children and adults.
We welcomed to the world our little warrior, Gabriela, in June 2016.
Frankie was born healthy and passed all in vitro tests and her newborn checks and scans.
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.
Partial Chromosonal Deletion
Belinda has an extremely rare partial chromosomal deletion.
When I was born, I was given a life expectancy of five. I’ve now just turned 40.
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
IQSEC2 Gene Mutation
Our journey began when Lloyd was around eight months old. We noticed something ‘wasn’t quite right’ developmentally with Lloyd.
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.
Idiopathic Thrombocytopenic Purpura
Meet Hudson, a typical toddler with idiopathic thrombocytopenic purpura (ITP). Learn about his journey through the eyes of his parents.
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.
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.
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
Genetic testing unveiled a mutation on the SCN2A gene which is almost certainly causing Lachy’s severe autism, intellectual disability and hypotonic c
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
My health declined for 12 months before I was diagnosed with Addison’s Disease.
Superior Mesenteric Artery Syndrome (SMAS)
My name is Ebony and I live with intestinal failure and require home parenteral nutrition.
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
When Lylah was born, our worst fear was confirmed as soon as we laid eyes on our little girl – Lylah had Epidermolysis Bullosa (EB)
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.
Sporadic Inclusion Body Myositis
At the end of 2016, I was changing insurance companies and the new company sent me for blood tests.
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
In the rare disease space, we cannot underestimate the importance of international collaboration and linkages.
Chronic Intestinal Pseudo-Obstruction (CIPO)
I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO).
Osteogenesis Imperfecta (OI), also known as ‘Brittle Bone Disease’ or ‘Glass Bone Disease’.
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 (
How to live half a life. I only live life a little bit. Not to the fullest, not with gusto and excitement.
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).
This is a hereditary disease (ATTR60Ala and 80Ala) that progresses slowly but is incurable.
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.