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
This is a good and complex post. Diagnosis is good if it helps others. Because of what happened to my daughter in this small town hospital, when the next kid came in presenting similarly, they knew right away it was stroke and she was spared the amount of damage that my daughter suffered. Meanwhile, stroke falls under “acquired brain injury”, which is a diagnosis, but….big but…stroke has completely different treatment/rehab protocols than traumatic brain injury, i.e., hit in the head with a blunt object. This distinction was never made in the hospital, or to me, and as a result, appropriate treatment/rehab protocols were late in coming to Sophie. Had Sophie been a 70 year old person, she would have been immediately treated for stroke, and then properly rehab-ed, right from the start. Tricky stuff this…very tricky. Could go on for hours. I’m sure you will appreciate my restraint….!!
Oh by the way, it’s true that there cannot be a direct comparison of Ashley and Anne McDonald…the point was more about mixing up cognitive ability with physical disability…the two do not necessarily go together, and hence, growth attenuation is very dangerous, since it is presupposed that those with severe physical disabilities are cognitively deficient as well, so it’s OK to do the treatment. Never mind the bizarre rationale that makes people think it’s OK to screw around with those who have cognitive challenges in the first place….
I feel I should clarify that the new doctor who wants another MRI, MRI-S, and new metabolic screenings is the head of a metabolic team, and the new neurologist did not want to pursue any testing at all as my child’s prior neurologist is world renown and as the neuro said, “Wrote the textbook on pediatric neurology.”
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.
Very interesting post. I’m still ruminating on it.
So glad you were able to get a diagnosis that possibly has helped and saved your children, as well as others. I am curious about how it saved another child from a life of disability, but don’t require a response.
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.
Add my compliments for your usual high quality post, SD.
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.
Wow what a great post. You put the subject of diagnosis into words that I often can’t express. I have a child who is undiagnosed, 13 years old, she is a very unique case the doctors say. I’m connected with many parents of children without a diagnosis and will be passing along your post.
I spent many years looking for a diagnosis and a cause of my daughter’s disability. We have a description now, global developmental delay with apraxia. I finally realized one day that what I was looking for was a cure and I realized there wasn’t one. She just is. A hard lesson to learn and one I wish I had applied to my other two children much earlier. Excellent post.
I feel like such a dork to post this, but I would like to pass on some awards to you that I received last week. You can “pick them up” on my blog.
Yes diagnosis seems to be a label describing the symptoms for the most part.
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.
When we go to the ER, I think that the diagnosis is more like a catalyst than an actual description of the Eldest’s medical condition. I mention the relevant diagnosis, and the triage nurse walks us into the back, where the diagnosis turns into a paragraph.
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…