'Orphan' of the health system
HAVING a child with a disease is difficult enough but when most doctors haven't even heard of the disease, it gets a whole lot harder.
David Stevens knows what it's like to have a child with a rare illness.
He said resources and research are limited and the only ones who can truly empathise are the smattering of other families dealing with the same thing.
Mr Stevens' four-year-old daughter Deisha has Rubinstein Taybi Syndrome, a condition she shares with just 26 in Australia and 800 in the world.
Today is World Rare Disease Day putting uncommon conditions in the spotlight.
Rare diseases have been referred to by the Steve Waugh Foundation as the orphan of the health system ‘without diagnosis, without treatment, without research and therefore, without reason to hope.'
Mr Stevens said Deisha wasn't diagnosed until she was two years old and he said caring for a child with a rare disease is an ‘ongoing battle every day'.
“Rare diseases don't have the resources of well-known diseases and it is a big battle when no one understands what you're dealing with,” he said.
“Most doctors haven't even heard of the disease, which is understandable given there are not many with the condition around.
“If it wasn't for internet forums I would be lost, you really rely on your own research and connecting with other families.”
He said he doesn't receive any financial support from the government and believes health funding should be uniform.
“There is just no support and there is a great deal of care needed when your child has cardiac problems, seizures, speech issues, learning difficulties and needs physiotherapy.”
He said there are other families around Coffs Harbour who have children with rare diseases and suffer from a similar lack of resources.
World Rare Disease Day aims to raise the profile of rare diseases and make people aware of their impact on child sufferers and their families in the hope of coordinating services, treatments, identification and research.