Rare disease shouldn’t kidnap a child’s future
There is a view that receiving an incorrect diagnosis of rare disease might be like taking a child out of their own country illegally. Both things can remove the child’s future potential and opportunity. The rate of misdiagnosis of rare disease in Australia is unknown. Some studies suggest it may be up to 40-50% of rare diseases. Misdiagnosis takes away from the child their future potential by creating a cycle of incorrect treatment, management, and prognosis. Misdiagnosis also limits access to appropriate support groups and potential funding.
Once a diagnosis has been received many families may not question whether the diagnosis is accurate. Even if they do question, they may not know who to approach for a second opinion. Openness by medical professionals to second opinions, and pathways for parents can help reduce the potential consequences of misdiagnosis.