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A boy, his brain, and a decades-long medical controversy

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Re: A boy, his brain, and a decades-long medical controversy

#31

Post by tasogare »

Auracle wrote: post #29
unanswered wrote: post #15

Earlier quoted context omitted.

You actually get tests? Consider yourself lucky. For me it's just "I don't recognize those symptoms. Symptom A and symptom B are never known to go together so I'll just ignore B, and there are no tests for conditions which cause A, so fuck off lol".

How about “your test came back too low, but I’m not even going to think about treating you because you don’t fit the profile.” You beg to at least be referred to a specialist. The specialist all but laughs you off but agrees to test again. The test comes back even lower. You then have to ask the “specialist” for a specific treatment because you apparently know more than he does. I’ve never had a good experience with…

I had one good endocrinologist, then she moved away. Since then it's just doctors looking at numbers and be like "numbers are low so you're fine", despite being tired all the time.

Re: A boy, his brain, and a decades-long medical controversy

#32

Post by pintxo »

marcan_42 wrote: post #12
sterlind wrote: post #10

Earlier quoted context omitted.

hEDS, the disorder I have, is somewhat controversial like PANS is. the symptoms include hypermobility (overly flexible), spontaneous joint dislocations, widespread pain, joint degeneration, easily damaged skin, fatigue, immune dysfunction and tachycardia. ~2% of the population is hypermobile, but healthy, and don't have those symptoms. hEDS is known to be heritable, but the genes haven't yet been identified. many doc…

I don't understand why so many doctors seem incapable of doing research or accept research provided to them by their patients. If you have symptoms that match a condition documented in medical literature, and the doctor can't come up with a better fitting explanation, why would they reject it? It's like these people learned a subset of their field and then just refuse to ever learn anything new.

A) Think IT Support suddenly exposed to a knowledgeable user

B) Just like IT Support, doctors abilities are distributed on a bell curve. We all hope that the curve is leaning to the right, but I think the jury is still out on that one.

Re: A boy, his brain, and a decades-long medical controversy

#33

Post by cowmoo728 »

There seems to be an assumption underlying medicine that things must be true at the population level for them to also be true at the individual level. I think medicine is picking its populations wrong. Example: the skeptical doctor in the article notes that "strep infection is extremely common in children, accounting for as many as a third of all sore throats—but you don’t see droves of kids with abnormal behavior crowding emergency departments and psychiatric clinics in late winter and early spring." But what if a more complex chain of events, or a genetic or immunological abnormality, is necessary to go from strep -> psychiatric episode? Meaning that there might be a very small sub-population of children for whom strep has a chance of causing these symptoms.

I also see this thinking erroneously applied to other psychiatric disorders like depression. Antidepressants seem to help some people, and not help some other people. Averaged over the entire population, they appear to have a mild positive effect. But there could easily be multiple causes of depressive symptoms, based on genetics, diet, behavior, drug use, and past trauma. Why do we take it as a given that antidepressants should help all of these sub-populations equally?

To take it to an extreme, there are many causes of blindness. Giving vitamin A to someone who lost his eyes in a car crash will clearly not help, even though vitamin A can "cure" blindness in some people. If we ran a double blind trial of vitamin A as a cure for blindness, it would almost certainly fail at the population level because blindness caused by vitamin A deficiency is a very small sub-population of all blind people.

Re: A boy, his brain, and a decades-long medical controversy

#34

Post by s5300 »

bigcorp-slave wrote: post #14
kevmo wrote: post #3

Earlier quoted context omitted.

Have you been tested for Lyme Disease? I know several folks with it, and they had very awful times (unnecessary surgery even) getting diagnosed.

Yes, and that’s not it. Unfortunately my constellation of symptoms does not seem to match any single entity. I have basically resigned myself to thinking that I may have an unusual genetic immunological or neurological defect. Think (this list is not exclusive or constant, and I go through multi-month cycles of subsets of these symptoms - all of them new onset since getting sick): - assorted chest and abdominal pain…

CSF leak?

Re: A boy, his brain, and a decades-long medical controversy

#35

Post by erentz »

bigcorp-slave wrote: post #14
kevmo wrote: post #3

Earlier quoted context omitted.

Have you been tested for Lyme Disease? I know several folks with it, and they had very awful times (unnecessary surgery even) getting diagnosed.

Yes, and that’s not it. Unfortunately my constellation of symptoms does not seem to match any single entity. I have basically resigned myself to thinking that I may have an unusual genetic immunological or neurological defect. Think (this list is not exclusive or constant, and I go through multi-month cycles of subsets of these symptoms - all of them new onset since getting sick): - assorted chest and abdominal pain…

Few thoughts come to mind in case you haven’t already come across them yourself:

1. Unlikely but testing for sleep apnea, just to rule out since I’ve heard people with strange constellations of symptoms find improvement this way.

2. Testing for neurological autoimmunity - a paraneoplastic panel, neuronal antibody panel, anti-nmda receptor. There are a number of panels depending on the lab for these with some overlaps between them just check what they cover. These can be hard to obtain you need a doctor who groks them. Also can be expensive and sometimes difficult to have insurance cover but that’s usually helped if the doctor groks it.

3. A small fiber punch biopsy. (See Therapath for info, may also find a talk on YouTube called Small Fibers Big Problems by Dr Oaklander)

4. Investigate ME/CFS (probably already have) and dysautomomia (autonomic neuropathy, possibly indicated if biopsy positive).

5. I’ve just put my email in my bio. If you’re US based and want a recommendation for some helpful neurologists who can look for this stuff send me an email.

Re: A boy, his brain, and a decades-long medical controversy

#36

Post by bigcorp-slave »

erentz wrote: post #35
bigcorp-slave wrote: post #14

Earlier quoted context omitted.

Yes, and that’s not it. Unfortunately my constellation of symptoms does not seem to match any single entity. I have basically resigned myself to thinking that I may have an unusual genetic immunological or neurological defect. Think (this list is not exclusive or constant, and I go through multi-month cycles of subsets of these symptoms - all of them new onset since getting sick): - assorted chest and abdominal pain…

Few thoughts come to mind in case you haven’t already come across them yourself: 1. Unlikely but testing for sleep apnea, just to rule out since I’ve heard people with strange constellations of symptoms find improvement this way. 2. Testing for neurological autoimmunity - a paraneoplastic panel, neuronal antibody panel, anti-nmda receptor. There are a number of panels depending on the lab for these with some overlaps…

No sleep apnea, tried that one. No ME/CFS investigation done yet. Immunological seems very plausible. Dysautonomia seems like potentially a good fit.

My feet are fine, so it can’t be SFSN, right?

I’d love a recommendation for helpful neurologists. Will send email. Thank you!

Re: A boy, his brain, and a decades-long medical controversy

#38

Post by Tabular-Iceberg »

Is the brain the only organ where everything is assumed to be idiopathic until proven otherwise?

Of course all organs sometimes just break by themselves, but for organs other than the brain, the immediate reaction seems to be to look for external causes. Is there perhaps a bias against that in psychiatry?

Re: A boy, his brain, and a decades-long medical controversy

#39

Post by nappy »

cowmoo728 wrote: post #33

There seems to be an assumption underlying medicine that things must be true at the population level for them to also be true at the individual level. I think medicine is picking its populations wrong. Example: the skeptical doctor in the article notes that "strep infection is extremely common in children, accounting for as many as a third of all sore throats—but you don’t see droves of kids with abnormal behavior cr…

This is a well understood concept in medicine, and a central part of the drug approval process.

Re: A boy, his brain, and a decades-long medical controversy

#40

Post by henearkr »

The way the autoimmune antibodies or the streptococci themselves go through the blood-brain barrier does not need to be through special "molecular keys" as said in the article.

I wonder how much of this idea has been already investigated, but it may be that the concussion provided a breach in the form of a very small hemorragia in the brain.

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