STORIES

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Kearns-Sayre Syndrome

Roslyn's rare disease day story
Hi, my name is Roslyn. I am 40 and I have Kearns-Sayre Syndrome. I have 3 beautiful girls and a new granddaughter. I had just beaten breast cancer to find out I had KSS.
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Miley and Heterotaxy

Miley's story for Rare Disease Day 2014
When I was about 35 weeks pregnant Miley stopped moving so we went for an ultrasound. They found out that she possibly had only one kidney. We went back to the doctor and were told to get another ultrasound and a second opinion.
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Liver Disease in Children

Lorna's story for Rare Disease Day 2014
The pedestrian was awesome but he told us he wasn't happy with Alex's blood counts. After a short period of no change in his counts we were referred to a Infectious Diseases centre where we diagnosed with CGD (Chronic Granulomatous Disease).
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Jackson- Langerhans Cell Histiocytosis & Diabetes Insipidus

Jackson's story for Rare Disease Day 2014
Our son Jackson first showed symptoms at six months. He had painful papule rashes in his groin and under arms and disgusting weeping wax from his ears. We saw numerous GP's. When he was 12 months old, Jackson was referred to see an ear, nose and throat doctor who took a biopsy from his ear and sent it to P.M.H.
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Life with HAE (Hereditary Angioedema)

Amanda's story about HAE for RDD2014
My name is Amanda and I live in W.A. I am a wife and a mother to four precious young children. I am also living my life with a rare blood disorder - HAE (Hereditary Angioedema). HAE is a medical condition that causes swellings around various parts of the body after trauma, stress or for no reason at all.
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Less than One in a Million: Degos

Julia shares her story for rare disease day 2014.
Julia is a 22 year old woman, living in Brisbane. Four months ago she was diagnosed with Degos Disease or (malignant atrophic papulosis). There are less than 200 Degos cases recorded worldwide, with a suggested prevalence of 1 in 1,000,000.
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Daughter with Pierre Robin Syndrome

Daughter with Pierre Robin Syndrome
My twelve year old daughter has Pierre Robin Syndrome. She has had operations to fix her pallet and she has had gromets. So far her sight is still good. She is seeing a speech pathologist. She struggles with talking in front of people and she has troubles making friends.
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Albrights Heredity Osteodystrophy

Kylie's story Rare Disease Day 2014
Both of our daughters, five years old and ten months old, have been born with a rare disease named Albrights Hereditary Osteodystrophy. It was passed onto them from myself through a gene mutation. I only have the mild strand of the disease, but our eldest has a more severe strand. We have to take a watch and see approach with the youngest.
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1q21.1micro deletion syndrome

Phillip and James Rare Disease Day 2014
I am a proud mum of two little boys: Phillip, age six and James, age four. Both boys have a rare chromosome deletion 1q21.1 deletion. There are currently 68 registered cases worldwide. They share this with their dad who is unaffected.
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The Unknown

Chloes story rare disease day 2014
We first noticed problems when Chloe was abound two and a half years old. First she had bladder problems and then came the uncontrollable screaming. I noticed blood and severe redness and swelling at first.
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Narcolepsy, Cataplexy and the Unknown

Narcolepsy and Cataplexy
I am 21 years old, and it took roughly five years to diagnose my condition. I suffer from extreme bouts of sleepiness throughout the day falling asleep whilst shopping, walking, gardening and watching television. Some people don’t even realise I have fallen asleep.
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Zac and Ryan have Chronic Granulomatosis Disease

Zac's story for Rare Disease Day
I was diagnosed with SLE when I was about 26 years old. Later I was diagnosed with CGD after my 4th child Zac (see his picture) was diagnosed at the hospital. This happened before his first birthday.
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Simra’s Story

Simra's story for Rare Disease Day 2014
Simra was born with two rare genetic conditions: Lebers Congenital Amaurosis and Joubert Syndrome. Lebers Congenital Amaurosis has left her completely blind. Joubert Syndrome affects balance and coordination and has left Simra with delays.
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Where There’s A Will

Claire's story on Osteopetrosis
My Daughter was born with a rare genetic disease, Osteopetrosis in 1988. In the early years of her life it was unknown and uncertain about her life expectancy.
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Stiff Person Syndrome

Stiff Person Syndrome
Stiff person syndrome (SPS) is a very rare degenerative autoimmune disease of the nervous system. It is thought to be a one in a million condition, but many that I talk to, think that there is a lot more.
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Fighting Cowdens Disease

Fighting Cowdens Disease
I am 47 and I have Cowdens disease. This is a rare genetic disorder that causes tumours to grow and increases your cancer risk. I have had many organs removed and I am constantly being monitored by doctors.
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My three boys and Haemophilia

Picture of the Butler family children
My husband and I are the very lucky parents of five amazing and intelligent kids. When Angus was five months old we found ourselves in the emergecy department with him having a LP because the doctors suspected he may have had Meningitis. Luckily the results came back negative.
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Hudson has D2-HGA

Hudson has d2 hydroxyglutaric aciduria
Hudson has d2 Hydroxyglutaric Aciduria. This means he is WAY behind the others and has mild fits. Our little Hudson does not walk and he does not talk. But he is such a little trooper! Hudson is only one of 100 individuals in the world with this condition so we are told. His condition is not well known.
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My son won the fight against LCH!

Kael was diagnosed with Langerhans Cell Histiositiosis
My son Kael developed a rash when he was two weeks old. His ears started to drip wax from six months. At eight months he had neurosurgery to remove a granuloma from his skull. Finally when he turned ten months old he was diagnosed with Langerhans Cell Histiositiosis (LCH) multi system.
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Waiting for a Diagnosis

Waiting for a Diagnosis
My name is Karen and I am 42 years old. I was diagnosed with Pemphigus Vulgaris, a very serious skin disease when I was 35 years old. Most cases develop in people aged over 50. I guess I was just 'lucky'. The disease may affect about 1 in 250,000 people. At the time of my diagnosis I had two girls, aged 4 and 7 years respectively.
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Alex has Chronic Granulomatous Disease

Alex's story Rare Disease Day
Alex our youngest bloke has never really been all that well. About two years ago he came down with a unique case of the Coxsackie virus which formed in the mouth.
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Liam is diagnosed with HLH

A picture of Liam diagnosed with HLH
Liam was diagnosed with Hemophagocytic Lymphohistiocytosis (HLH) in august after being sick for two months. He had been turned away from the hospital on many occasions with doctors and nurses saying he was "just teething".
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Living with Inclusion Body Myositis

Living with Inclusion Body Myositis
I've just turned 60 and was diagnosed about 9 months ago with Inclusion Body Myositis. In hindsight I would say the 1st symptoms appeared when I was around 45 years of age. It was a gradual weakening and I was thinking I was being lazy. I used to train to regain fitness, which was the worst thing I could have done because I was destroying my muscles.
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My Baby Sister: Undiagnosed

My Baby Sister: Undiagnosed

For just over a year, ever since her birth my baby sister has been struggling with some kind of disability. She is the mystery of all neurologists across Australia, and the world. At the moment it seems like she is the only person in the world with this disability, and we most likely will never have answers but I wouldn't change her for the world.
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Rare Muscle Disorder

Rare Muscle Disorder

My son has been suffering with a muscle disorder with no name now since he was 8 years old, now he is 28. His muscles keep growing and cause a tremendous amount of pain. It started in his calves, have progressed to his thigh, arms and shoulders, and will keep on going.
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Rare Brain Disease

Rare Brain Disease

My name is Maree, and in May 2010 I went for a routine eye check....what happened in the week that followed changed my life forever. Initially it was thought I had a brain tumour, after extensive testing and 2 lumber punctures I was told I had Intracranial Hypertension - a rare brain disease. I went home and started to look for support in our community, there was none.
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Living with Leber’s Congenital Amaurosis

Living with Leber's Congenital Amaurosis

My name is Colleen and I am the mother of three year old daughter, Shianne who was born with an genetic eye disease for which there is no cure for and has left her with no vision. You can follow our story on www.shiannedurdin.com.au and read all about our journey from diagnosis at 10 months old until today.
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My son diagnosed with Bardet Biedl Syndrome

My son diagnosed with Bardet Biedl Syndrome

On the 7th of March 2011 I was blessed with a beautiful little boy we named Saxon. He was born with a skin tag on his left hand and an extra toe on his left foot which we believed made him special. Saxon was thriving until 6 months of age when his weight was climbing fast and his progress got slower. We went to a Paediatrician who gave him a renal ultrasound and said it was fine and there's no need to see him anymore.
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Stiff Person Syndrome / Isaacs’ Syndrome

Stiff Person Syndrome / Isaacs' Syndrome

I am a 65 year old male my journey began in October 2003, although according to my Neurologist it was undiagnosed for about 10yrs. I was lying in bed and I was unable to move my legs, and had severe tremors so much so that I was hospitalised. During my time in hospital I was found to be severely B12 deficient.
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Nueroferritinopathy

Nueroferritinopathy

Nueroferritinopathy, this disease which less than 50 people in the world suffer from, leaves it's victims without speech, balance and cuts them off from all communication. My father, his full blood and two half blood brothers (same father) all have or had this disease. The disease was described as a degenerative brain disorder and wasn't given a name until 2001. I was examined after my father died in the early 90's and cleared of the disease as it was thought to transfer via the x chromosome. I discovered that was not so about 3 weeks ago.
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Loving Charlie

Loving Charlie

Charlie was diagnosed at birth with craniosynostosis and a rare chromosome disorder. This has meant surgery at 6months to correct the fused sutures in his forehead and continuing therapies to help him achieve milestones. His chromosome disorder is rare and has no syndrome name yet, deletion 6q26-qter x1. I have been able to find information concerning probable outcomes.
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At least three rare diseases in one body

At least three rare diseases in one body

My daughter is 20yrs old, strong, bright, tall and pretty. She looks totally normal albeit a bit thin. But underneath that bright exterior, she has Ehlers Danlos Syndrome Type 3 which means she's usually in chronic pain caused by the dislocations of a joint or two-these days, usually ribs. She also has Narcolepsy - a sleep disorder which doesn't allow her brain to be awake without medication and if that's not enough- she has an Immunodeficiency that is so rare she cannot get treatment for it because she falls outside the medical criteria for treatment.
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Keratoconus

Keratoconus

Hi my name is Jill and this is a story about my son, in December last year he was having trouble reading his computer screen at home and at work he would have to squint to see I told him to go and have his eyes tested and he went to be told that glasses would not fix his problem he was later diagnosed as having Kerataconus now this is not life threatening but it’s a big blow to an active healthy 18 year old who wishes to join the Police force.
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FAngels

FAngels

My name is Stacey and I was diagnosed with Fanconi Anaemia just before my 9th birthday. FA or Fanconi Anaemia is a very rare genetic disorder which has no cure. It is a very cancer prone disease and carries with it a multitude of symptoms that can affect every system in the body and its main issue of complete bone marrow failure. It is a highly complicated, expensive and psychologically demanding condition, both on patients and families.
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Kobe and Chiari 1 Malformation

Kobe and Chiari 1 Malformation

In February 2012 Kobe was diagnosed with Chiari 1 Malformation, which is a serious neurological disorder where the cerebellum at the bottom of the brain doesn’t fit into the base of the skull properly, the increased pressure forces the brain to herniate downwards through a natural space at the base of the skull and into the spinal canal.
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mma with hcy

mma with hcy

My name is Sofia I am 42 years old and live in Canberra. I was diagnosed with mma with hcy when I was 8 years old through the Children's Hospital Camperdown and the Yale Medical School.

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Treacher Collins Syndrome

Treacher Collins Syndrome

My little boy Rory was born in June 2011 with a rare genetic condition called Treacher Collins Syndrome. For us Rory's condition is 1 in 50,000 as there is no family history of TCS. TCS is a genetic condition caused by a mistake in a gene called TCOF1. However, now that Rory has TCS there is a 50/50 chance of him passing it onto his children. We have been extremely blessed that Rory only seems to have TCS in a mild form.
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Neurofibromatosis and Wilson’s disease

Neurofibromatosis and Wilson's disease

My family have known about Neurofibromatosis in our family for many years and now we can trace it back to my mum’s great grandmother. This has affected me, my sister three of my cousins and my mother and her siblings. I had to have a whipples procedure to have a tumour removed about 15 years ago. My mother also had the same operation back in the 70's. My sister and one of our aunties had tumours removed from the adrenal glands. So we as a family have been through a bit.
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Living with a child with Hypopituitarism

Living with a child with Hypopituitarism

Hypopituitarism is the decreased secretion of one of more of the 8 hormones normally produced by the pituitary gland. I am the luckiest mum ever, I have 2 beautiful sons and an amazing step-daughter. Life felt perfect, simple even, until 4 years ago when we started noticing that Bailey (now 8) was not growing and meeting his milestones like all the other children his age. With many trips to the GP over an 18 month period and being told that we were making something of nothing we felt helpless. I followed my intuition and pushed for a referral to a Paediatrician.
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Acceptance of people as they are is key

Acceptance of people as they are is key

I am lucky in that the condition I have (mixed connective tissue disease) has been well managed, is now stable and people have accepted me as I am. I have also been (mostly) believed by medical professionals. My friends and my partner supported me through the illness, which was particularly important during the early years when it was very easy to become isolated.
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Young onset Multiple System Atrophy

Young onset Multiple System Atrophy

Eight years ago, my husband David was an excellent skier, a successful project manager, involved father and we travelled extensively with our two children, but now at 51 has stopped working and needs assistance with rolling over in bed, eating, speaking, going to the toilet and travels any distance of more than a few metres by wheelchair.
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Takayasus arteritis

Takayasus arteritis

Hi my story started 3 years ago when I began to get very sick, my local doctor tried everything to find out what was wrong with me, he kept checking my blood pressure and it was dropping drastically and my blood tests were coming in with very strange readings. In the end he sent me into hospital where I stayed for 6 weeks, in that time I had every test possible but still couldn't find what was happening to me they couldn't work out how I could be sitting up talking when I didn't have any blood pressure or pulses in my arms.
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Ruby Ruby Ruby

Ruby Ruby Ruby

Ruby is 4, she has an inoperable chest tumour - It is a vascular/lymphatic malformation. We are currently looking for treatment overseas. We have travelled to NSW for help as QLD does not have its own paediatric interventional radiologist (something I am trying to change).
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What a DISH

What a DISH

I have DISH - Diffuse Idiopathic Skeletal Hyperostosis, or as it is otherwise known, Forestier's Disease. Many people have DISH without knowing it, and without it bothering them, but unfortunately I have the chronic version of it. The added complication is that although as you get older you run the risk of osteoporosis, which means your bones get weaker, in my case something along with DISH has caused my bones to become extremely dense like calcified concrete.
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Rare To Us

Rare To Us

My son was diagnosed with HME at 1 year. He has had numerous operations to remove bone growths and growth plates slowed. He has remained positive throughout. His older sister, very physical and a role model to us all, became ill suddenly when he was 10. She had glioblastoma multiformae. She died at 13 1/2 when he was just 12. Both rare, both unrelated.
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Neuro-sarcoidosis

Neuro-sarcoidosis

Denise is an author and puzzle writer. About ten years ago, aged 38, she started to get unusual neurological symptoms on and off ... a sixth nerve palsy (causing double vision) was the first one that landed her in hospital. She also had problems with severe fatigue and other 'vague' symptoms that were problematic, but no-one could pin down what the cause was.
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Accept me for who I am not EDS

Accept me for who I am not EDS

Just because I suffer from Ehlers Danlos Syndrome doesn't mean I am any different to the way I used to be. It just means that there are some sports, activities or exercises I am unable to do anymore. I still enjoy going out for meals, going to the movies and just having fun with my friends.
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Bladder Exstrophy The Long Road

Bladder Exstrophy The Long Road

Hi my name is Matthew, I am 27 years old and I was born with Bladder Exstrophy. It is a congenital anomaly in which part of the urinary bladder is present outside the body. It is rare, occurring once every 10,000 to 50,000 live births with a 2:1 male: female ratio.
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Sophia’s Story

Sophia's Story
Sophia will be 5 years old in May and she has two rare diseases. At this stage the experts feel there is no connection between the two, and as far as we know, she is the only child world wide living with both conditions. Treating one can complicate the other, so we are in a unique position, with more questions than answers in regards to her treatment.
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Guest Blog: Nikki’s Story.

Guest Blog: Nikki's Story.
My name is Nikki and I’m a typical 26 yr old girl living in Sydney, Australia. The one thing that is not so typical is that I was born with a rare genetic skin disorder called Epidermolysis Bullosa or EB for short.
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March: global MSA Awareness Month

March: global MSA Awareness Month

MSA is a rare disease that comes later in life, generally late 50s or later, and which has no tell-tale signs before you learn you have it. In 2007, Michelle was a Level 9 skier racing down double-black bump runs in Aspen. In 2010, she was successful and in full-time employment, being well ahead of budget during GFC…

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Thomas and Bradley

Thomas and Bradley

Bradley and Thomas Farrell were born with Arts Syndrome - a rare genetic condition causing muscle weakness, hearing and visual impairment, severe mental disability, as well as an increased risk of infection. This disease affects males only; the life expectancy is very short. Most children suffering Arts Syndrome die before reaching 10 years of age.

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Toby’s Story

Toby's Story

Toby Kable is a fourth year Primary Education student, majoring in Special Education at the University of Newcastle (New South Wales) and worked for many years with adults and children with special needs, including those affected by rare diseases.

Toby has been a songwriter and playing guitar for many years.

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Renee’s Story

Renee's Story

Hi, I’m Renee. I’m 19.

I love good food, the latest music, shopping and going clubbing with friends.

People should take the trouble to find out what rare disease day is all about because people with rare diseases go through a lot, and they deserve to be treated like everyone else.

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