Because “hemophilia” means very little without a conversation about the higher gain function of the immune system, the triphasic half-lives and antibody activity that complicates the picture. On paper, the kid has two diagnoses, plus a sub-diagnosis, or complication. In practice, the two diagnoses are interwoven, affecting and complicating each other.

I have little patience for doctors who don’t approach the Eldest from this perspective, And their care suffers as a result. Territoriality between specialists (my turf vs yours, I see only my oranges, you see only your apples), and I’m throttling the rant right here.

On the other hand, for all that our hematology team can infuriate me by their blindnesses, we were told right off that we had more of a description than a diagnosis. The spectrum was drawn for us, some of the science behind it explained – as it should be. But the person who began that trend in hemophilia education, insofar as I can tell, was a parent…

In the cases of unknown aetiology which there are more cases than we can imagine, I think the general mode of operation for the doctors is one of nihilism.

They will make piecmeal attempts at drilling down to aetiology but tend to leave this work to researchers. I do not believe many doctors have much active interest in furthering knowledge or understanding or having promoting the prospect of their patients participating in schemes to aggressively uncover the truths of the disease.

It does not seem to matter how severely effected an individual is and the what the will of the patient or parents are. The doctors are stuck in a paradigm paralysis. They try to identify the symptoms apply their taught methodology to the case and output a diagnosis.

I myself via my little daughter know the frustration of this situation. There is an unwritten rule amongst doctors I believe that , it is not their role to learn or participate in the furthering of knowledge but to apply the knowledge, which i believe is a dangerous position since it would seem logical that with the pressure of workload it is entirely likely that the doctors will not be aware of all pieces of information that might form part of a puzzle or where the information they have will be of interest to other researchers.

I guess the doctors do what they do with mostly good intentions I hope, it is more painful to imagine otherwise , still there is much lacking in the understanding , organisation and dissemination of knowledge in the field. So called experts are so often not that knowledgable with huge gaps and a serious lack of initiative or willingness to think about a subject.

Each parent wants all avenues explored and more, realistically it is very difficult mainly for economic reasons. i.e cost in ordering endless tests and studies and brainpower time of specialists.

I don’t disagree with your perspective on the word. However, I think attaching ‘partial’ to ‘diagnosis’ does not increase the specificity of how the latter is used. If that was your intent – ? Alternatively, perhaps you meant only to accentuate your disgust over the oblique use of ‘diagnosis’.

Much of your complaint resides in the historical use of words – which requires real time to modify in the vernacular. Which reminds of a comment I left elsewhere recently. In an online commentary on eliminating the R-word from use…..I opined that I thought a language change followed behavioral change and not vise versa.

Behaviorally, physicians and parents are becoming more diagnostically specific in practice and caregiving. However, the small majority of parents are in the intellectual circle of those herein, and like Kelly, physicians often find it easier to use commonly understood terms like CP. Those parents who can seek further information will.

Some physicians are near 70 years old, and some are several years from 30.

Kelly’s question makes me think, why are people so curious about other people’s diagnoses, and bothered when they don’t have them?

I suppose it can be about prevention, or about just increasing our understandings of other people’s experiences. I was about to go into that extensively as it relates to my family’s predisposition to spina bifida. Apparently a cousin of ours has spina bifida occulta that only barely effects his quality of life but no one ever told us about it. Coulda been useful information for those of us who shared some of his DNA, and had my sister not been more open with me, I wouldn’t have known to take extra folic acid the moment I began thinking about getting pregnant. But on the other hand, it’s very difficult for some people to accept I had no diagnosis other than pre-term labor with Natan, that I hadn’t done anything wrong during the pregnancy, and that was really not helpful in terms of prevention or treatment (until my next pregnancy, maybe). But that’s a post for my own blog.

Thank you for sharing this–you’re giving me lots to think about.

My child’s new GI doctor was upset that my child wasn’t diagnosed yet, and she made some phone calls after insisting my son see this “new and wonderful” metabolic specialist. The idea that a child entering puberty is not yet diagnosed bothers a lot of people, and, apparently, doctors included. I cannot tell you how many times people will look at me strangely when I tell them we don’t know why my child is this way other than he was born with it. People look at you like you don’t believe in seeking medical help or that you must go to a quack. So now when someone asks, and they ask all the time, I just say he has CP, and no one blinks an eye. I am, unfortunately, spreading the use of a non-diagnostic term as if it was one.

Nice post.