Rare Diseases

How Josie Used Medical Crowdfunding for her Wheelchair Cost

How Josie Used Medical Crowdfunding for her Wheelchair Cost

Wheelchair cost in Australia can be an expensive for many households with a loved one with a disability. For Josie Holdsworth and her family, a wheelchair is one of many medical expenses that pile up every month. Although a wheelchair would better the life of […]

Understanding Pompe disease in Australia

Understanding Pompe disease in Australia

Pompe disease, or acid maltase deficiency, is defined as an autosomal recessive metabolic disease that destroys muscle along with nerve cells throughout the body. The disorder is initiated by a build-up of glycogen in the lysosome as a result of deficiency of the lysosomal acid […]

The cost of life saving drug hydroxyl propyl beta cyclodextrin for Australians with rare disease called Niemann Pick Type C

The cost of life saving drug hydroxyl propyl beta cyclodextrin for Australians with rare disease called Niemann Pick Type C

Niemann Pick disease is a rare condition that results from an enzyme deficiency in the body. The condition is an inherited one and for someone to be affected with it, both parents have to be carriers of the faulty gene. There are three different forms […]

The cost of life saving drug Eculizumab for Australians with rare disease called atypical haemolytic uraemic syndrome (aHUS)

The cost of life saving drug Eculizumab for Australians with rare disease called atypical haemolytic uraemic syndrome (aHUS)

Atypical haemolytic uraemic syndrome is a rare condition that is also a deadly one. For 10- 15% of aHUS patients who do not receive timely treatment, the outcome is death within a year of the diagnosis. It is believed to affect about 2 individuals in […]

The cost of getting treatment overseas for Australians with rare diseases like Pallister-Hall Syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP)

The cost of getting treatment overseas for Australians with rare diseases like Pallister-Hall Syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP)

Rare diseases are known to affect about 6-10% of the Australian population; roughly that equals around 1.2 million people in Australia. Among these conditions like Pallister-Hall Syndrome, chronic inflammatory demyelinating polyneuropathy also known as CIDP and Lyme disease are some examples. While the United States […]

High out of pocket medical expenses and health cost in order to access in Australia the Drug treatment Myozyme to help treat rare Pompe disease

High out of pocket medical expenses and health cost in order to access in Australia the Drug treatment Myozyme to help treat rare Pompe disease

Pompe disease is a rare, progressive degenerative muscle disorder that can render sufferers immobile, wheelchair bound and with gradual respiratory failure. The condition is extremely rare, with an estimated occurrence of one in 40,000 live births. In Australia there are less than 30 individuals diagnosed […]

Fundraising For Loved Ones With Rare Diseases such as Kabuki Syndrome

Fundraising For Loved Ones With Rare Diseases such as Kabuki Syndrome

What Is Kabuki Syndrome? Kabuki syndrome is a rare genetic disorder. There is very little known about the disorder worldwide. At the moment, there is no concrete evidence of the cause of kabuki syndrome. Although kabuki syndrome is a genetic disorder, in most cases there […]

1.5 Million Australians Affected by Rare Diseases – Some of Their Stories Shared

1.5 Million Australians Affected by Rare Diseases – Some of Their Stories Shared

“In Australia there’s about 1.5 million people affected by rare diseases”, says Dianne Petrie, the director of the Association of Genetic Support Australasia. With so many people in Australia being affected by such rare diseases, a recent article entitled: “Rare disease stories shared” was published […]

Sydney Blogger Nikki Howe has Rare Disease but Keeps Sense of Humour

Sydney Blogger Nikki Howe has Rare Disease but Keeps Sense of Humour

Many Australians who have an illness or disease often feel that there is no hope. This is not the case for Sydney blogger, Nikki Howe, who has a rare disease but is staying positive and even humorous on her blog, Nikkablogger. She was recently featured […]