A rare disease in Australia is defined as one which affects 1 in 10,000 people or less.
There are up to 8000 known rare diseases, the majority have a genetic origin.
Although each disease is rare, collectively they affect up to 10% of the population.
That is up to 2 million Australians of which up to 400,000 children.
Rare diseases can be life-threatening or chronically debilitating.
Most begin in childhood and continue throughout life.
Obtaining a definitive diagnosis is often difficult and delayed, if diagnosed at all.
Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to a loss of independence and opportunities.
Many rare diseases have no cure
In Australia, the Steve Waugh Foundation is dedicated to supporting those with rare diseases and their families, as these kids with ‘orphan’ diseases often don’t fall under established support and funding services.
Dear little nephew Liam is one of the kids who falls under the umbrella of rare conditions, with his Spondyloepimetaphyseal dysplasia. With something the local therapists have never seen, and the specialists only come across rarely, it can be hard to get answers and to know if you’re on the right track with monitoring of development.