Every child or adult with a rare disease has a diagnosis story. Some are long and traumatizing, some are short and miraculous, and some are just so very sad, replete with missed opportunities, skepticism, and errors.
There are many organizations that seek to improve diagnosis, some specializing in rare disease and others not. There is, in fact, a Society to Improve Diagnosis in Medicine, although I found nothing specific on their website related to diagnosing rare diseases.
But really, the greatest tool we have is awareness and curiosity. If physicians are made more aware of the existence of various types of rare diseases, more aware of their specific and distinguishing symptoms, then that goes a long way. But despite awareness, we need to pique and promote the curiosity of physicians, and dispel the complacency and the skepticism that throws about standardized labels of autism PDD-NOS or imaginative parent, where some years later the real rare disease diagnosis is revealed.
In light of those frustrations, sometimes sharing is both cathartic and extremely helpful. If doctors, nurses, and other health professionals can learn from the omissions, coincidental diagnoses, and mis-diagnoses of our stories, then we have given back to those families who will travel the road after us.
What is your diagnosis story? What did health professionals miss or get right?