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. Read More
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. Read More
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. Read More
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. Read More
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. Read More
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. Read More
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. Read More
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. >Read More
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.Read More
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. Read More
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. Read More
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. Read More
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. Read More
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). Read More
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. Read More
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. Read More
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. Read More
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. Read More
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. Read More
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. Read More
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.
Miley and Heterotaxy
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.
Liver Disease in Children
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).
Jackson- Langerhans Cell Histiocytosis & Diabetes Insipidus
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. Read More
Life with HAE (Hereditary Angioedema)
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.
Less than One in a Million: Degos
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.
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.
Albrights Heredity Osteodystrophy
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.
1q21.1micro deletion syndrome
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.
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.
Narcolepsy, Cataplexy and the Unknown
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.
Zac and Ryan have Chronic Granulomatosis Disease
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.
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.
Where There’s A Will
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. Read More
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.
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.
My three boys and Haemophilia
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.
Hudson has D2-HGA
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.
My son won the fight against LCH!
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.
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. Read More
Alex has Chronic Granulomatous Disease
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.
Liam is 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". Read More
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. Read More
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. Read More
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. Read More
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. Read More
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.Read More
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.Read More
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. Read More
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.Read More
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.Read More
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. Read More
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.Read More
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.
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. Read More