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.
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.
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.
Our journey began when Lloyd was around eight months old. We noticed something ‘wasn’t quite right’ developmentally with Lloyd.
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 and play.
Meet Hudson. He’s a typical toddler that has had idiopathic thrombocytopenic purpura (ITP) for nearly his entire life. Learn a little about his journey through the eyes of his parents Brianna and Trent.
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. I was one of the youngest people in Australia to be diagnosed with the disease.
Most stories about Fibrodysplasia Ossificans Progressiva (FOP) start from a young age. My story is different. For me, FOP is only a relatively new “friend” I’ve had since 2009 when I was diagnosed at the age of 29.
Andrew is 28-years-old and was formally diagnosed with a complex Cortical brain malformation when he was 17 called Periventricular nodular heterotopia (PVNH) with overlaying Polymicrogyria (posterior subtype) and Cerebellar hypoplasia.
Fair for Rare: Lachy's Story
Genetic testing unveiled a mutation on the SCN2A gene which is almost certainly causing Lachy’s severe autism, intellectual disability and hypotonic cerebral palsy.
Fair for Rare: William's Story
I was born with Kartagener syndrome meaning my internal organs are positioned mirror reversed compared to someone with normal positioning of their organs.
Fair for Rare: April's Story
My health declined for 12 months before I was diagnosed with Addison’s Disease.
Fair for Rare: Ebony's Story
My name is Ebony and I live with intestinal failure and require home parenteral nutrition.
Fair for Rare: Peter's Story
My father tells me that he was ecstatic when I was born. He was very proud that his firstborn child was a son who would be able to carry on the family name. It wasn’t long before Mum and Dad realised that there was something wrong with me.
Fair for Rare: Lylah's Story
Unlike other families, when we found out we were expecting our first baby, we knew that our baby would have a 50 per cent chance of being born with ‘the worst disease you’ve ever heard of’.
Fair for Rare: Adam's Story
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. While sport came naturally and I achieved state honours in cricket and football, there was always the pain that came along with it. Injuries riddled my body from tip to toe but somehow, I always found ways to compete.
Fair for Rare: Tracy's Story
At the end of 2016, I was changing insurance companies and the new company sent me for blood tests. When the results came back, they immediately said: "we are not going to cover you, your CK levels are too high". What the heck are CK levels, I wondered?
Fair for Rare: Eva's Story
This is beautiful Eva and this is her story, told by her mum, Ursula. At 6-months-old, we finally got a diagnosis of SCN2A.
Fair for Rare: Tino's Story
Growing up in Sub-Saharan Africa, Zimbabwe, my family and society had convinced me to believe that I was cursed by ancestral gods, in my mother’s womb. I learnt to accept that I was a black sheep, an ugly smelling duckling who will die an outcast.
Fair for Rare: Jodie's Story
I have a unique type of intestinal failure (IF) called Chronic Intestinal Pseudo-Obstruction (CIPO). It’s organ failure just like heart failure or kidney failure and it’s very rare.
When I sneeze or cough, I have to check that my ribs aren’t broken (my record is four broken ribs at once).
I was diagnosed at 8-years-old with a rare disease called Ehlers-Danlos syndrome type 6 or Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS).
I got diagnosed with Autoimmune haemolytic anaemia. This is a rare and potentially fatal condition.
Vince learnt he had the gene for FAP and FAC near the end of June 2014.
Grace was diagnosed in October 2017 with idiopathic pulmonary hypertension (IPH).
Ever wondered what it feels like to live with mal de debarquement syndrome (MdDS)?
Our son Ethan was born in September 2013 and everything seemed fine. As time went by and he was getting older, we realised he wasn't thriving like a baby his age should be.
One day, as I was climbing a 5200m pass, I noticed increased weakness. Upon reaching the top and starting the descent, I became disorientated, fatigued, extremely weak and started staggering.
In 2003, I gave birth via emergency C-section at 34 weeks gestation. My daughter needed resuscitation immediately.
Arianna was born and we knew pretty soon after she was going to be complex.
Caleb was only about 18 months old then and I could feel my heart breaking into a million pieces.
About 18 months ago, I developed an incessant pain deep within the left side of my chest and neck.
When I was 19 years old, I started going blind in my right eye and a bunch of tests led to a diagnosis of multiple sclerosis (MS).
My story focuses on the difficulty as an adult of orchestrating appropriate, and sustained, multidiscriplinary care.
When you have four children with the eldest being 25 and the youngest is 13, and the flu hits your family, the last thing you expect to hear is that in actual fact your daughter has a Rare Disease which was triggered by the influenza.
Our son Dallas was a relatively typical child up until around 14 months old, it was then we started to notice things that were not quite right.
We met in December 2010, I was told that I had Stiff Person Syndrome. We can transform this world, we can work each day to make this a more inclusive society in which to live, if we have the guts to do it.
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.
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.
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
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.
I have known about Fabry Disease for over 40 years, when my uncle was the first in our family to be diagnosed.
My name is Cara-Louise and this year I was finally diagnosed with Mal De Debarquement Syndrome (MdDS) after five years of waiting.
Amy was diagnosed with Cystic Fibrosis (CF) about six months after she was born.
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....
Tayla was diagnosed with Paraganglioma, a type of rare neuroendocrine tumor in children.
Barry was diagnosed with Retroperitoneal fibrosis (RPF). RPF is the abnormal growth of white and 'woody' tissue around the abodomen.
Bella was diagnosed with Monosomy 16q24,3 - a rare disease that results in a moderate intellectual disability.
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.
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.
Aidan was diagnosed with Bertolotti's syndrome, which means he has an extra bone growth on his L5 vertebrae.
Jessica was diagnosed with the chronic disease Hereditary Coproporphyria (HCP), which is genetic and is known as an acute hepatic porphyria.
Emma’s symptoms and features and decided at 10 months that she had OHDO syndrome.
Annabella was dianogsed with 22q11 deletion Syndrome, whereby specific facial features develop over time.
Mya was diagnosed with Ehlers-Danlos Syndrome type 3, which results in her body experiencing faulty collagen.
Since Nimai was born, he had experienced major health complications. This led to his diagnosis with 48XXYY syndrome.
Jane's diagnosis with Gitelman's Syndrome came after symptoms of fatigue, and a lowered immunity to common viruses.
Sarah went from eating normally to not being able to tolerate food and eventually liquid supplements.
Jacqueline was diagnosed with Cystic Fibrosis when she was only one day old.
The most difficult thing to deal with has probably been other people’s lack of understanding of the condition.
Dyskeratosis is characterised by a variety of symptoms including skin abnormalities, abnormal nail growth, lesions in the mucous membranes.
A month after I had a miscarriage, I started having severe headaches. The onset was sudden, and they lasted for weeks.
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.
I had crippling pains in my hands and feet; I couldn't exercise, and had to forego my passion for sport.
I was diagnosed with Myasthenia Gravis disease in September 2007 after experiencing my symptoms for over 18 months.
Mikey was a healthy baby until he suffered a febrile illness at 10 months of age.
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.
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.
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.
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.