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Personal Stories of Living With a Rare Disease

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.

Fair for Rare: Austin’s Story

On July 6th, 2017 we received one of the most exciting calls of the last 13 years from our genetics team as they needed to share with us the results of our sons exome sequencing. Finally, they had an answer for our son’s developmental delay.

Fair for Rare: Doug’s Story

Most children with Duchenne muscular dystrophy are diagnosed around three years of age, with the disease affecting 1 in 5,000 people in the developed world.

Fair for Rare: Francesca’s Story

Francesca is a beautiful happy little girl who was diagnosed with a rare mutation to a gene - ADCY5.

Fair for Rare: Breanna's Story

I'm a mum of 4, and my youngest son ‘B’ was born with a genetic deletion.

Fair for Rare: Juanita’s Story

There has previously been no research into Mucolipidosis III because of the rarity. Damian & Jesse-Rose see a number of specialists to monitor their disease.

Fair for Rare: Stephen’s Story

Stephen was diagnosed in 2009 by accident, when investigations were made as a result of a torn knee cartilage. 

Fair for Rare: Elliott’s Story

Elliot was a typical happy and healthy 3 year old until early December 2016 when we noticed some bruising on his legs which progressively got worse over a few days.

 

Fair for Rare: Andy’s Story

My rare disease journey started in April 2013 when I was living in Sydney. The first symptoms I started experiencing were severe headaches that lead to me suffering nausea each day.

 

Fair for Rare: Bella’s Story

Bella was born in 2003 and for the first few months of her life, we did not notice anything unusual, to us she was your typical happy baby...

 

Fair for Rare: Kalten’s Story

My son Kalten lives with the ultra-rare and debilitating disorder Morquio A or MPS IV.

 

Fabry Disease

I have known about Fabry Disease for over 40 years, when my uncle was the first in our family to be diagnosed.

 

Cara-Louise

My name is Cara-Louise and this year I was finally diagnosed with Mal De Debarquement Syndrome (MdDS) after five years of waiting.

 

Amy

Amy was diagnosed with Cystic Fibrosis (CF) about six months after she was born.

 

Kalten

My son Kalten lives with the ultra-rare and debilitating disorder Morquio A or MPS IV.

 

Ethan and Logan

Ethan was diagnosed with Fragile X syndrome in 2012. After months of searching for answers....

 

Homocystinuria (HCU)

 Blake was the first child diagnosed with homocsytinuria (HCU) in Victoria, Australia following the start of newborn screening.

Paraganglioma

Tayla was diagnosed with Paraganglioma, a type of rare neuroendocrine tumor in children.

Retroperitoneal Fibrosis (RPF)

Barry was diagnosed with Retroperitoneal fibrosis (RPF). RPF is the abnormal growth of white and 'woody' tissue around the abodomen.

Monosomy 16q24,3

Bella was diagnosed with Monosomy 16q24,3 - a rare disease that results in a moderate intellectual disability.

Cowden Syndrome

When Connor was 12 weeks old, he stopped gaining weight and had a very large belly. After many tests they found a lump on his liver.

Pompe Disease

Lama is a single mother of a 13 year old boy with no family in Australia. She was diagnosed with Pompe's disease in mid-2012.

Bertolotti's Syndrome

Aidan was diagnosed with Bertolotti's syndrome, which means he has an extra bone growth on his L5 vertebrae.

Hereditary Coproporphyria (HCP)

Jessica was diagnosed with the chronic disease Hereditary Coproporphyria (HCP), which is genetic and is known as an acute hepatic porphyria.

OHDO Syndrome

Emma’s symptoms and features and decided at 10 months that she had OHDO syndrome.

22q11 Deletion Syndrome

Annabella was dianogsed with 22q11 deletion Syndrome, whereby specific facial features develop over time.

Ehlers-Danlos Syndrome - T3

Mya was diagnosed with Ehlers-Danlos Syndrome type 3, which results in her body experiencing faulty collagen.

48XXYY Syndrome

Since Nimai was born, he had experienced major health complications. This led to his diagnosis with 48XXYY syndrome.

Cystic Fibrosis (CF)

Jacqueline was diagnosed with Cystic Fibrosis when she was only one day old.

Gitelman's Syndrome

Jane's diagnosis with Gitelman's Syndrome came after symptoms of fatigue, and a lowered immunity to common viruses.

Auto-immune Autonomic Neuropathy

Sarah went from eating normally to not being able to tolerate food and eventually liquid supplements.

Addison's Disease

The most difficult thing to deal with has probably been other people’s lack of understanding of the condition.

Dyskeratosis Congenita

Dyskeratosis is characterised by a variety of symptoms including skin abnormalities, abnormal nail growth, lesions in the mucous membranes.

Myeloproliferative Neoplasm (MPN)

A month after I had a miscarriage, I started having severe headaches. The onset was sudden, and they lasted for weeks.

Chronic Idiopathic Intestinal Pseudo Obstruction

This rare genetic disease we discovered was called Chronic Idiopathic Intestinal Pseudo Obstruction linked Filamin a Defect, which is usually fatal and found only in males. 

Fabry Disease

I had crippling pains in my hands and feet; I couldn't exercise, and had to forego my passion for sport.

Myasthenia Gravis Disease

I was diagnosed with Myasthenia Gravis disease in September 2007 after experiencing my symptoms for over 18 months.

Hemi-convulsion Hemiplegia Epilepsy Syndrome (HHE) 

Mikey was a healthy baby until he suffered a febrile illness at 10 months of age.

Eagle Syndrome

In 2001 I started feeling unwell from pain in my face, ear and throat. Doctors thought that the pain might be associated with my tonsils so I had them removed, but all my symptoms still continued. 

Cowden's Syndrome/Benign Intracranial Hypertension/Spina Bifida Occulta

These conditions have impacted both my sister’s life and mine. I would just like to be like every other 20 something year old; and live my life the way I want.

Ring Chromosome 9

Isabel was diagnosed at birth with a very rare genetic disorder, and is the only known case in Australia.

Bloom Syndrome

At 16 months Isabelle was diagnosed with Bloom Syndrome. Her sun sensitive skin, small size and regular sickness lead to blood tests that confirmed the diagnosis.

Sotos Syndrome

Sylas was diagnosed with Sotos Syndrome at 15 months of age.

 Also known as Cerebral Gigantism, it is a genetic condition that causes physical overgrowth during the first few years of life.