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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. Most people don't understand that disability affects the siblings as well and that for me my life is run by my sister’s rare disease, but I am never alone.

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. He has had numerous fasciotomies and operations on his legs, the most he got to experience relief for was 2 years. The pain is so severe that he passes out from it.

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.

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.

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.

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, and was suffering they diagnosed with Funicular Myelosis, the way they found this out was by myriad of tests and standing upright legs together and close your eyes I just fell over.

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.

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.

At least 3 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.

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.

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.

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. The herniation blocks the flow of CSF or spinal fluid to the brain, putting pressure on both the brain and spine causing various neurological symptoms.