If you live with a rare disease like myself, no doubt often out of necessity, you have become your own advocate. I can't recall how many times I've had to explain to medical staff about Gaucher disease, the rare disorder I was born with. Over the years I have got my explanation down pat to a concise summary which I can swiftly deliver in any ER. My husband who always accompanies me, no doubt can recite almost word verbatim, for he too has become well versed. Dealing with any chronic on-going health situation is difficult, but the problem is magnified greatly when suffering from a disease that's rare.
It would be impossible, not to mention unreasonable, to expect every family doctor to know about all rare disorders, since there are approximately 7,000 - one of those being Gaucher disease. But I do expect him/her to read up about a rare disease once they find a patient like me under their care. Unlike years ago, it is now far easier to research, learn, and be in contact with specialists to enable a family doctor to take care of a patient with a rare disease to the best of their ability.
Patient and doctor can work together side by side and hopefully participatory medicine becomes the way of the future. However I believe it should not be forgotten that the doctor remains the doctor at all times, and the patient remains the patient. As much as we would like to be on an equal footing with doctors, as a patient, it's important to recognise a doctor's wealth of experience and years of studying medicine. To my mind, diagnosis should be left to the experts.
Technology has changed the rules of the game somewhat for today courtesy of the Internet, one can "google" every symptom imaginable from morning till night. The fortune of readily available data can make us more aware of various ailments, but sometimes a little information is a dangerous thing and most definitely does not make a patient qualified nor a substitute for a doctor's keen eye, experience and knowledge. I am sure doctors must be sick and tired of patients reciting various pieces of medical information they have found on-line that possibly bear no relevance to their particular case.
Changing with the times, from both perspectives - doctor and patient require to revise old practises and put into place new approaches. I consider myself very fortunate, as I receive the very best of care. Living with two diseases is considerably difficult, yet through open and honest dialogue between a multidisciplinary team of doctors, I know I couldn't be in better hands. I would like to thank my doctors for the outstanding care and expertise they continue to provide. You are a shining example to the medical community.