The whole concept of “diagnosis” has been on my mind a lot lately. Bet you didn’t even think of it as a “concept” but I do. I will explain, and probably ramble. Most of the links offered will be to respectable references, no need to look, actually.
So it may be the identification of a disease, which leads one to believe it must be a previously known disease (can you “identify” something never before seen in a way meaningful to us, or just give it a random name?) or the determination of its “nature.” There are lots of other definitions, also.
As it concerns “our” community, I believe that “diagnosis” must mean, “why this is happening” or has happened, to be more specific, we mean “ etiology “. To what end? Why does it matter? In order to have the information that we desperately want to know, the diagnosis must include the root cause. If we do not know the actual cause, we do not know if it will happen again, continue to happen, or potentially where it will go.
“Epilepsy” is not a diagnosis.
What about “Cerebral Palsy”?
This tells me that the label of “epilepsy” or “cerebral palsy” is basically useless in the sense that it tells us nothing of the root cause, the etiology, and is a label of the symptoms more than the cause. This tells us nothing about how to “cure,” long term changes / challenges, or the best therapies.
And what about “developmentally delayed” or “globally delayed”? As Kelly of UnlockTheSecretVoice has pointed out, those terms define a progression, not a cessation. Without a knowledge of the etiology, without a diagnosis, how can anyone, claim that your child will progress developmentally? How dare they, without knowing, say so via a so-called diagnosis.
We define our children by their diagnosis, that is just how important it is. In conversations with strangers, when the child come up, the diagnosis is not far behind. It is a vital part of them. To us.
What about a misleading or wrong diagnosis? This adds confusion and multiple dead ends. Claire, an ardent detractor of the Ashley Treatment (and rightfully so, keep going Claire!), posts this article by a woman who says that, like Ashley, she has static encephalopathy and cerebral palsy. Both terms, by the way, are meaningless as to etiology as well as diagnosis. The woman in the article is attempting to make that point that she had (has?) the same diagnosis as Ashley, yet she, the author, went on to earn a degree from a university. What needs to be considered is that one, the author was institutionalized at the age of three in a facility that obviously reminds us of facilities from the turn of the century and two, the diagnoses are broad based and non-etiology based. Ashley, no matter how abhorrent the decisions of her caretakers were, was cared for in a loving home with extensive medical oversight and care. This woman’s article is moot purely because the two female PERSONS at the core of the comparison, cannot be compared, we are only offered non-diagnosis, non-etiology based information. With complete etiology to Ashley’s condition, wouldn’t time, money, and effort have been better spent? Obviously Ms. McDonald was the victim of repeated wrong and meaningless diagnoses, as well as physical and mental treatment. But she is NOT Ashley, nor is Ashley her. Don’t get me wrong, I am with Claire on the horrors of such procedures, but I do believe Ms. McDonald’s argument is flawed based on misuse of non diagnoses.
But what happens when there is no diagnosis?
The NIH estimates that in most cases doctor’s typically only identify about 600 conditions. This is due to their education, access to information, experience, etc. So, why is this an issue? What is the importance of a diagnosis, or again, the etiology?
Finding a patient’s condition (illness, disease, etc.) among the 6600 known conditions is a daunting task. Then there are the infinite conditions that are not among the 6600 known.
Caring for a child when there is no known etiology is expensive. More tests are done to try to find either the cause of an immediate problem or the core issue. Effective medicines are unknown since there is no known history of medications and the exact condition (because the condition is unknown). Side effects to medicines and therapies are unknown. Insurance companies often won’t pay for sophisticated genetic testing arguing erroneously that it will be the symptoms that are treated anyway.
Furthermore the effect on the family can be devastating. A dear friend of mine has a seven year old daughter who recently suffered a stroke, they know where in the brain it occurred, sort of kind of how, but not the ultimate why. No etiology. And so far a meaningless diagnosis (as far as the future is concerned). What does this do to the family? She wrote …
It is devastating not knowing. Kelly is another mom who has been searching for a diagnosis for years for her severely disabled son. Having recently moved and changed doctors may provide an answer. The new neurologist has taken a special interest and just scheduled a new round of tests. I just received this in an email …
Having a diagnosis may be meaningless. There are many conditions for which there is no known cure and the treatment is based on symptoms, exactly what you do when there is no diagnosis. A multiple diagnosis may be just as baffling …
In a past post I referred to that as a partial diagnosis. There is a diagnosis, and etiology, and the complete unknown anyway because of the seemingly unique, or heretofore unknown, combination of errors.
A diagnosis can be devastating. A diagnosis can be life saving. A diagnosis can be useless.
Both my children were diagnosed with specific etiology when they were four and two. Seeing that they were the first in medical literature with said diagnosis, was it useful? Without the diagnosis they may not be with us anymore. There is now a third child known in the US with the same condition, and maybe a dozen in Europe … all diagnosed because of the specific study of my family’s genes. And we saved at least one child from a life of disability. But more on that in another post, if interested.
National Institutes of Health, Office of Rare Diseases Research – Great resource for those undiagnosed
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