From your perspective, perhaps you could explain the meaning of the term "working diagnosis". This and some more well researched articles use this modifier, but I don't think most of the general public understands what this means. There seems to be a lot of assumptions on the part of the parents and some of the public that this was a definitive diagnosis.
(When my child was given a "working diagnosis" of a different disorder, it was explained to me that this was a preliminary diagnosis pending confirmation through more extensive confirmatory testing. The physician referred to it as his "best guess. In my child's case, testing proved it to be incorrect and we moved on with further diagnostic testing.)
I think that's a pretty accurate definition. "Educated guess."
For complex and "emerging" new syndromes and diseases, there is a period of scientific uncertainty in the process to develop definitive diagnostic criteria that is agreed upon in a consensus manner by communities of specialists. Until there is a consensus model of diagnosis and treatment, it's all "theory."
I'm not trying to be controversial or start a storm, but a few examples of these "emerging" diagnoses historically are Lyme disease, chronic fatigue syndrome, mitochondrial disease, fibromyalgia, and various other rather obscure genetic and metabolic syndromes. (I'm
not suggesting or implying that these don't "exist", but that it has taken a very long time for the medical and scientific communities to come to any kind of consensus on these conditions.)
The Tufts metabolic doc (Korson or something) had a good explanation when he described providers as "lumpers and splitters". Suffice to say that for the diagnosis of mitochondrial disease, there is little across-the-board consensus among experts as to what the diagnostic criteria is, or isn't, since the disease has such tremendous variability in presentation and progress. If the experts cannot even agree as to what the diagnostic criteria is, it's unlikely they will come to consensus as to how to best treat patients that they think "have" it.
All of health care runs on the consensus model-- and that is even how reimbursement is handled. If you are an "outlier" as a provider, you will have a hard time justifying your decisions and practice (and getting paid), UNLESS you funnel your "outlier" ideas and treatments through valid, established scientific studies (including institutional review boards). That is the "ethical" way to be an "outlier".
Korson recognized that this approach made him a “lumper,” meaning he was more willing to lump patterns of symptoms together to get to a diagnosis, even if the patient did not have the classical markers associated with the illness. Conversely, he felt others, including some at Children’s, were “splitters,” meaning they avoided making a diagnosis if the patient did not have the classic markers.
http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html
Here are some additional definitions of differential diagnosis (same as a working diagnosis).
working diagnosis
Preliminary diagnosis, provisional diagnosis Decision-making A diagnosis based on experience, clinical epidemiology, and early confirmatory evidence provided by ancillary studies–eg, radiologic findings; WDs allow early disease management, while awaiting special or more definitive studies–eg, immunoperoxidase stains or results from a reference lab.
working diagnosis provisional diagnosis of the most likely nature of a disease (prior to confirmation by laboratory diagnosis and/or other test results)
http://medical-dictionary.thefreedictionary.com/working+diagnosis
A differential diagnosis (sometimes abbreviated DDx, ddx, DD, D/Dx, or ΔΔ
is a systematic diagnostic method used to identify the presence of an entity where multiple alternatives are possible (and the process may be termed differential diagnostic procedure), and may also refer to any of the included candidate alternatives (or candidate conditions).
This method is essentially a process of elimination or at least a process of obtaining information that shrinks the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medical knowledge to adjust epistemic confidences in the mind of the diagnostician (or, for computerized or computer-assisted diagnosis, the software of the system).
There are various methods of performing a differential diagnostic procedure, but in general, it is based on the idea that one begins by considering the most common diagnosis first: a head cold versus meningitis, for example. As a reminder, medical students are taught the Occam's razor adage, "When you hear hoofbeats, look for horses, not zebras," which means look for the simplest, most common explanation first. Only after ruling out the simplest diagnosis should the clinician consider more complex or exotic diagnoses.
Differential diagnosis - Wikipedia, the free encyclopedia
In medicine, a differential diagnosis is a diagnosis which examines all of the possible causes for a set of symptoms in order to arrive at a diagnosis. For example, if a patient presents with a runny nose, doctors might consider causes like hay fever and colds in the differential diagnosis in an attempt to arrive at the right diagnosis. Many doctors use this system of diagnosis in their practices, and some doctors known as diagnosticians actually specialize in it.
http://www.wisegeek.com/what-is-differential-diagnosis.htm
I wanted to add one more example, since it is easier to understand the historical progress of where we started from, and where we are today.
For those old enough to remember, think back to the late 70's and 80's, when a mysterious new illness was presenting in populations of gay men. We went from describing the improbable prevalence and outbreaks as "random", to understanding the effects of air travel on diseases spreading. But then, inexplicably, kids with hemophilia and sickle cell started showing up with the same immune suppression symptoms, along with some trauma patients and surgical patients, and scientists knew there had to be a blood-borne source of the infection.
For a while we called this new illness an unknown autoimmune disorder, and tried to make it conform to known syndromes, both genetic and community acquired. Then scientists identified HTLV-3. After many years, we finally have a well described set of diagnostic criteria for HIV/ AIDS, a consensus for how we refer to these conditions, and scientifically based outcome studies as to how best to treat it in various populations. We screen blood donors to protect vulnerable populations receiving transfusions. Look how far we've come in managing this "emerging disease". Now HIV is mostly considered a manageable condition, rather than an immediate death sentence.
