Diagnosis – dī-ig-ˈnō-səs

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.

The definition of “diagnosis” seems to be vague. 

The art or act of identifying a disease from its signs and symptoms.

The determination of the nature of a disease, injury, or congenital defect.

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.

Epilepsy is a disorder with many possible causes. Anything that disturbs the normal pattern of neuron activity – from illness to brain damage to abnormal brain development – can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, or some combination of these factors. Having a seizure does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. ~NIH

At least two unprovoked seizures are required for an epilepsy diagnosis. ~Mayo Clinic

What about “Cerebral Palsy”?

“Cerebral palsy” is a general term for a group of disorders that appear during the first few years of life and affect a child’s ability to coordinate body movements. ~Mayo Clinic

Cerebral palsy is a group of disorders … –NIH

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?

… physicians deal with about 6600 conditions and 6000 of these conditions are quite rare. ~Elias Zerhouni, the Director of the National Institutes of Health

A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. ~NIH Office of Rare Diseases Research

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 …

She had a stroke. She had a stroke. Do you get that?? She’s my child, she’s just a baby, and she had a stroke. She could have another one any second. She could have a bad one. She could be paralyzed. She could forget her name. She could forget everything. She could stop being able to talk. She could die.

God forbid. God forbid.

Sometimes when I’m sitting with her, which I do a lot since she’s so cuddly and gorgeous and adorable, I put my cheek against her head and her soft, shiny brown hair, and I think to myself, Maybe I can hear the blood flowing. Maybe if I press my ear against her head and try as hard as I can, I’ll be able to hear the blood rushing, smoothly and unobstructed, through her brain. Maybe if I close my eyes and concentrate, my mind will take me inside her head, so I can travel with the blood cells through the arteries and into her heart and back again, so I can see for sure that all is fine. Maybe if I imagine with all my strength, I’ll be able to grab any leftover crud from that spot in the internal carotid, and I can shred it to pieces as I flow by. Maybe I can hammer out the bulgy things and make her artery smooth again. Maybe I can make her well.

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 …

So, the thing is… I’m upset by it. I am so afraid that nothing will come of this which isn’t accurate since no change in the MRI is huge and normal metabolic test results are huge, too. But I’m afraid it will all be normal, and I’m afraid they’ll finally find something horrific. I’m afraid to hope, and I’m afraid to be cavalier about it.

Tomorrow, I’ll be less afraid. And the day after that even less so …

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 …

[Izzy] also has an extra arm on her 18th chromosome, which replaced the deletion on her 15th chromosome. The location of the missing portion on chromosome 15 indicates that Izzy most likely has Angelman Syndrome. There is no way of knowing how the extra arm on chromosome 18 will affect or modify Izzy’s condition. ~The Flight of Our Hummingbird

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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