STORIES

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Familial Adenomatous Polyposis and Desmoid Tumour

Familial Adenomatous Polyposis and Desmoid Tumour

In the last two and a half years I’ve been diagnosed with two very rare diseases, Familial Adenomatous Polyposis (FAP), and more recently with an Intra-Abdominal Desmoid tumour (linked to my FAP).
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Liam's Joubert Journey

Liam’s Joubert Journey

Mid-2013 we were expecting our third and final bundle of joy. Up until 20 weeks into my pregnancy everything seemed fine bubs was healthy and growing perfectly. It was at our 20 week scan that we found out we were going to have a little boy due Christmas Day to add to our little family.
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Harvey's Rare Bone Disease

Harvey’s Rare Bone Disease

Our precious little boy, Harvey has been through a lot. Doctors knew something wasn't right from the moment he was born but it took two years to diagnose his disease, Hypophosphatasia (HPP), as most of his specialists had never heard of it.
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Chloe's Hope: Stop the Burning

Chloe’s Hope: Stop the Burning

What does a juvenile disability look like? Some might envision a home-schooled child or perhaps a wheelchair user. What if a child outwardly appeared normal yet their insides were screaming in agony?
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STIFF PERSON SYNDROME (SPS)

STIFF PERSON SYNDROME (SPS)

I was diagnosed with Stiff Person Syndrome in February 2016 after four months of MRIs, CT scans and X-rays.
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MEN 1 & Epilepsy

MEN 1 & Epilepsy

Blood clot to brain ~ Epilepsy caused due to motor accidents. MEN 1 followed, the change of diet is alarming.
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Langerhans Cell Histiocytosis (LCH)

Langerhans Cell Histiocytosis (LCH)

Hazel was 4 months of age when I first noticed the spots. By 6 months she underwent a skin biopsy that diagnosed Langerhans Cell Histiocytosis (LCH).
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Aidan's Journey with Mitochondrial Disease

Aidan’s Journey with Mitochondrial Disease

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Fungal Meningitis

Fungal Meningitis

My daughter Bec was two weeks shy of her 22nd birthday when she passed away in june 2012 from fungal meningitis.
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Our journey with Craniosynostosis

Our journey with Craniosynostosis

Both of our sons have a rare skull deformity, 'Craniosynostosis'.
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Kody's PMG Story

Kody’s PMG Story

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CIDP - Cronic Inflamatory Demylinating Polyneuropathy

CIDP – Cronic Inflamatory Demylinating Polyneuropathy

CIDP effects people in many different ways, appears to be non curable but you can have remissions.
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OTC Deficiency

OTC Deficiency

I have an extremely rare metabolic condition, called Ornithine Transcarbamalayse Deficiency (OTCD for short).
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Blaze's Story - NF1

Blaze’s Story – NF1

Blayze has NF1, Kaposiform Hemangioendothelioma (KHE) and Coats Disease of the left eye
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Beauty behind their Spots - Mastocytosis

Beauty behind their Spots – Mastocytosis

Savannah was born with some of her Spots. Doctors said they would go away or they were just strawberry birth marks. Then a few weeks later they would flare up, look angry and blister. Her tiny body would go instantly red with a rash all over. No one knew what was wrong with her til she was 3.5 mths old and a dermatologist prediagnosed her with a rare condition called Mastocytosis.
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Paxton's Journey with MPS II (Hunter syndrome)

Paxton’s Journey with MPS II (Hunter syndrome)

In March 2014 our beautiful 9month old son Paxton was diagnosed with a rare disease called Mucopolysaccharidosis II (also known as Hunter Syndrome).
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Hypoparathyroidism

Hypoparathyroidism

My name is Sharon, I am 59 years old. I have Surgical Induced Hypoparathyroidism, following a Total Thyroidectomy for a benign Retrosternal goitre.
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Jarvis' journey with FOP (Fibrodysplasia Ossificans Progressiva)

Jarvis’ journey with FOP (Fibrodysplasia Ossificans Progressiva)

Meet Jarvis – a cheeky and funny four year old who loves to sing U2 songs and race around the park.
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Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS)

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS)

My rare disease story is about my beautiful son Julian. Something that started as innocently as growing pains at the age of 5 turned out to be a life changing diagnosis.
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Langerhans Histiocytosis (LCH) in Oscar

Langerhans Histiocytosis (LCH) in Oscar

Our son Oscar was diagnosed with multi Langerhans Histiocytosis (LCH) in October last year, he was only 9 months. He developed a rash on his back and groin area when he was only 2 months, where we were told that it was eczema.
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Multiple Hereditary Exostoses

Multiple Hereditary Exostoses

Multiple Hereditary Exostoses (Bumpy Bones) is what my identical 6 year old twin sons have. Some bumps you can see easily and some are hidden. It is a genetic hereditary disease but in their case they were a spontaneous mutation so are the only ones in our family to have it.
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pLp1 gene deletion also known as Pelizaeus-Merzbacher Disease

pLp1 gene deletion also known as Pelizaeus-Merzbacher Disease

Our daughter Jodie is 25 years old and has only recently been diagnosed. Jodie has pLp1 gene deletion also known as Pelizaeus-Merzbacher Disease. Although we now have a diagnosis it still doesn't help us for the long term.
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Rare Metabolic Disorder - OTC Deficiency

Rare Metabolic Disorder – OTC Deficiency

Hey! My name is Brooke, I'm 18 years old and I'm a student studying year 12 at school in Melbourn., I've been a patient at the Royal Childrens Hospital my whole life - seeing the amazing metabolic team, whom have saved my life many times.
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MPS 1 Hurler Syndrome

MPS 1 Hurler Syndrome

The video says pretty much all of it.
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Recovery from Guillain Barre Syndrome

Recovery from Guillain Barre Syndrome

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My Eagle Syndrome journey

My Eagle Syndrome journey

I was diagnosed with Eagle Syndrome in August 2015 after 14/ 15 years of suffering with it.
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Bianca and (HLH) Hemophagocytic Lymphohistiocytocis

Bianca and (HLH) Hemophagocytic Lymphohistiocytocis

When Jo-Ann took her daughter Bianca to the doctors with a fever she had no idea it was going to be the biggest thing her girl would ever face.
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Mary’s Xeroderma Pigmentosum Story

Mary’s Xeroderma Pigmentosum Story

My daughter, Mary, was diagnosed with Xeroderma Pigmentosum in 1997 at the age of four and a half. By the time Mary was three years old she had suffered 4 or 5 severe peeling sunburns. We tried to be diligent in sun protection but became alarmed as we realized her skin seemed to be showing signs of extensive damage.
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Myofibreblastoma - Jed's Story

Myofibreblastoma – Jed’s Story

Jed was just like any other 8 year old boy, he played soccer for his local club which he loved. He also loved skateboarding and skated everywhere he could!
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Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Hypertension

I didn't have a hole in my heart - I had Idiopathic Pulmonary Hypertension.
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Pontocerebellar Hypoplasia Type 7

Pontocerebellar Hypoplasia Type 7

My beautiful girl was a surprise when she was born as an amnio during the pregnancy had shown XY chromosomes. There was our first surprise - androgen insensitivity.
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Craniosynostosis

Craniosynostosis

Meet Isaac, he was born with Craniosynostosis.
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Smith Magenis Syndrome

Smith Magenis Syndrome

Emma-Raey Living with Smith Magenis Syndrome & lovin' life!
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My unique star Imogen

My unique star Imogen

Imogen has hydrocephalus and needed a shunt to release the blocked fluid on the brain, Corpus callosum hypoplasia with ventriculomegaly, Plagiocephaly (left), Colpocehaly, Hypoplasia of the septum pellucidum and the cerebellar vermis, plus Polymicrogyria.
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Mucolipidosis 3

Mucolipidosis 3

My daughter sufferers from Mucolipidosis and to our knowledge there are only 5 other surviving sufferers in Australia and approx 68 world wide. This is a very cruel condition that affects all the muscles, tissues, bones and organs in the body.
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Juvenile Myositis

Juvenile Myositis

I'm 14 and was diagnosed with Juvenile Myositis last year. It's a rare auto-immune disease where your antibodies go crazy and start attacking your muscles. It makes you more tired and its painful to do simple things like walking up stairs and washing your hair.
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KCNQ2 Epileptic Encephalopathy

KCNQ2 Epileptic Encephalopathy

Little Oliver started having seizures from only 3 days of age. For the first year of his life he has had hundreds of seizures with no reason. We have since found out he has a rare condition called KCnq2 Epilepsy.
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Cavernoma

Cavernoma

I was working full time, studying, and planning a wedding. I became increasingly stressed. I was at work (at a hospital) and had a CT of my brain. They told me that I had a growth in my brain. I was not surprised as I already had double vision, left sided weakness, and, freakedly, a numb tongue. I had a brainstem Cavernoma.
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Amira and PKU

Amira and PKU

Amira had severe jaundice and her levels kept getting higher and higher so she ended up in the NICU ward overnight to get the help she needed. After 10 days, Amira was diagnosed with Phenylketonuria also known as PKU.
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Haiden & HLH

Haiden & HLH

Haiden has been an immune suppress child all his life. Born 9 weeks early, at 9 months diagnosed with ITP and at 1 and a half diagnosed with Nephrotic Syndrome. In January 2014 his younger sister was born a perfectly healthy, on time baby. Reached all her milestones on time until July 2014.
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Ally vs. HLH

Ally vs. HLH

Ally was the poster child for health & happiness. But after weeks of feeling unwell, Ally was eventually diagnosed with Haemophagycytic Lymphohistiocytosis. HLH - a rare & life threatening blood disorder. Not cancer, but the only treatment was chemotherapy.
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Amelie: Smith-Magenis Syndrome

Amelie: Smith-Magenis Syndrome

Amelie was diagnosed with Smith-Magenis Syndrome at the age of 3. Despite facing chronic sleep disturbance, sensory processing challenges and learning difficulties, Amelie resiliently embraces life with enthusiasm.
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Neurofibromatosis Type 1

Neurofibromatosis Type 1

When I was three I was diagnosed with Neurofibromatosis Type 1, after my parents noticed multiple cafe au lait spots over me. After multiple tests and scans, they concluded I had NF1. Thankfully, my condition isn't as severe as the others who have been diagnosed. I have yet to find neurofibromas and have never had to have surgery. >
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Unknown Phosphate Wasting Sydrome

Unknown Phosphate Wasting Sydrome

One of triplets, Avah was born with an aggressive Phosphate Wasting Syndrome that has caused Hypophosphatemic rickets with hyperparathyroidism. For Avah life is an adventure that needs to be lived and boy does she live it. Avah's sunny bright personality can only be matched by the golden colour of her hair.
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Neuroendocrine Tumour

Neuroendocrine Tumour

In April 2011 I was diagnosed with Neuroendocrine Tumour Carcinoid Cancer. After spending lots of time in hospital being very sick I am in a good place currently. I can never be cured but my oncologists have worked hard to keep me well.
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Neuroendocrine Cancer

Neuroendocrine Cancer

In December 2003, after years of experiencing a confusing range of health issues, I finally had an answer to why I suffered chronic back pain and my right shoulder sat five centimetres higher than my left. After a simple chest X-ray the cause of my strange symptoms and my physical discomfort lay in the middle of my right lung.
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Rare Case of NETS

Rare Case of NETS

My brother was diagnosed with Neuroendocrine Cancer in 2011. His initial symptoms were moon like face, unusual weight gain and skin like tissue paper. After a trip to the GP, he was diagnosed with Cushings Syndrome.
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A Condition So Rare - is Harmony the only one?

A Condition So Rare – is Harmony the only one?

Our daughter Harmony Rose was first diagnosed with Metaphyseal Dysplasia Disease, then Metaphyseal Chondrodysplaysia Disease, then Metaphysical Enchondromatosis Disease. Unfortunately to this day they don't know what she has and have said it's so rare she could be the only child in the world with it.
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Vanishing White Matter Disease

Vanishing White Matter Disease

Chloe was running around enjoying her childhood like any other 3 and a half year old.After falling ill from a vomiting virus, Chloe found it difficult to balance, walk or stand up without support and her little hands started to shake. Chloe was eventually diagnosed with Vanishing White Matter Disease (VWM).
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Stargardt's Disease

Stargardt’s Disease

Stargardt's disease is a juvenile form of macular degeneration. It affects the central vision and leads to legal blindness. I was diagnosed with Stargardt's when I was 24 and am now legally blind at 28.
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Xp 11.3, 11.4 deletion - Looking for Same

Xp 11.3, 11.4 deletion – Looking for Same

When Tom was 3 years of age, we met with the geneticist at the Royal Children's Hospital in Melbourne to be told that our child with the obscure but hopeful diagnosis of "Global Development Delay" actually had a rare condition called Xp 11.3, 11.4 deletion.
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Lupus X-Linked Carrier

Lupus X-Linked Carrier

My name is Carolyn and I have lupus. I'm an x-linked carrier. I can't work because im always sick. Besides Lupus, I was born with only one kidney an extra lumbar.
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Chiari Malformation (Type 2) & Syringomyelia

Chiari Malformation (Type 2) & Syringomyelia

I was diagnosed with Chiari Malformation (Type 2) where not only my cerebellum but my brainstem are both herniated out of my skull.
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Achalasia

Achalasia

I was diagnosed with Achalasia 5 years ago which followed with a Cardiomyotomy. Achalasia is a disease (recently discovered as Auto Immune) that affects the ability to swallow.
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Living with NETS

Living with NETS

I am a mother of two children and live in Adelaide, Australia. My eldest daughter Tayla now 15, was diagnosed in 2012 with a rare disease - a type of neuroendocrine tumor or (NETS) and then months later with a genetic mutation - SDHB.
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