In what many who have come across rare diseases in the medical careers would call a triumph of common sense, a Queensland woman has failed in a bid to sue her GP for not recognising the symptoms of cryptococcal meningitis sooner.
The woman who has tragically been left blind and deaf by the disease sought $8 million in damages on the basis that her GP did not refer her to a specialist quickly enough. After approaching her GP with headaches, neck pains and dizziness she was prescribed painkillers and physio therapy, but within a week her health had deteriorated and she was admitted to hospital for treatment where she was later diagnosed with cryptocococcal meningitis.
The Australian Supreme Court in cairns ruled that the woman’s GP had not breached her duty by failing to refer the patient to a specialist immediately. Even though the patient may have avoided the life threatening injuries she later suffered, her GP acted with reasonable care and skill in her initial reaction to the patient’s symptoms.
This is a victory of common-sense for those working in the rare disease industry, but it does point to improvements that the industry must strive towards.
Rare diseases are difficult to diagnose, a fact made worse by the low level of rare disease knowledge held by general practitioners across the world. The industry must continue to improve general awareness of rare diseases and their treatments in order to cut down the dramatic waiting times experienced by orphan disease patients.
But with this knowledge comes a caveat, whilst GPs must remain on the lookout, they cannot find themselves too easily jumping to a rare disease diagnosis. The infrastructure surrounding rare disease diagnosis is small compared to the tools at the disposal of more general medicine.
So whilst a greater awareness of rare diseases is needed, the industry must give doctors the confidence to not only diagnose or suspect rare disease, but also to hold back and not simply send every person who display’s vaguely relevant symptoms to their local expert: rare disease experts and national infra-structure simply could not handle the volume of case, most of which would not be rare disease cases.