Like many (or perhaps most) parents there have been a number of times when my wife and I have taken our children to the doctor and received a diagnosis we didn't think 'fit' with what we observed. Thankfully, our most serious was a walk in the park compared to Dr. Rienhoff in the Wired article I link to at the bottom of this post.
Right before we moved to the pacific northwest our youngest daughter came down with a stomach illness which didn't follow what we thought was a normal course based on past history. We visited the doctor twice to be dismissed with 'this is going around' and 'it will pass' and 'we see this all the time with kids in daycare' (even though she wasn't in daycare) and 'just keep her hydrated and come back if it gets worse'. Exasperated with the fact she wasn't getting worse but also not getting better we started digging deep for possible causes of the symptoms (via the world wide web) and on our third visit we gave the doctor a list of tests we wanted to have run. The doctor smiled and cordially dismissed our suggestion and reiterated everything again (along with 'there is really nothing to be worred about'). At that point, my wife and I looked at each other, nodded, and then politely told the doctor we refused to leave the exam room until they drew the blood and ran the tests. With a slight roll of the eyes the doctor explained there was virtually no chance any test would come back positive but that if we insisted she would have run the 'expensive tests' anyway. The doctor made notes in the chart and had the nurse come in to draw blood.
Early the next morning the doctor called to tell us our daughter had Salmonella poisoning -- one of the items on our list.
Had the test been done earlier there were some treatment options which could have been applied, mostly to ease the discomfort of our youngest daughter. As it was, we were on the tenth day which usually marks the upper range of symptoms. Sure enough, in a weeks time our youngest daugter was back to her normal self and life was good.
Those ten days were hell -- not really because we had a sick daughter, but rather because we didn't know if we were doing the right things to make her well again. In the end, it taught us to be zealous advocates for our children where healthcare is concerned.
This is one of the finest articles I've ever read in Wired Magazine. It's a great geek read for anyone interested in DNA and the human genome -- but is also a very touching account of a fathers love for his daughter.
DIY DNA: One Father's Attempt to Hack His Daughter's Genetic Code