5 ms·

I'm in the process of looking for a new PCP - although now we actually do have access to the specialists that I think we needed to, and our interaction is more

I'm in the process of looking for a new PCP - although now we actually do have access to the specialists that I think we needed to, and our interaction is more or less just "send a non-urgent message" on the web-platform, and get a referral back the next working day. I am at every single one of these appointments - I was in a better position to recall how things went down, and I am very much her advocate. She's had many many tests - which have ruled out a lot of truly terrifying things, but there is still no affirmative diagnosis of what it is she has. The last discharge from ER listed her as having "restless leg syndrome" - which is obviously not a diagnosis. The tremors in her legs are a symptom, not a cause, and they only started after the sodium levels were raised. The treatment was the prednisone that the neurologist put her on prior to getting the MRI data, but prednisone has its own side-effects, so we were told to stop taking it once the MRI data was obtained. The "Undiagnosed diseases network" is a great find - thank you. I have just enrolled her case in "Teladoc" which can give 'expert medical opinions' using her release notes and visit documentation. I'm hopeful they might find something, but the UDN looks like 'House' for real. I'll definitely look into it :)

tough 3y ago
This could be absurd but have you tried ChatGPT for clues?
CapstanRoller 3y ago
Wild guess (I am not a doctor in the slightest): could it be some kind of dopamine regulation problem? >Dopamine has been shown to facilitate anti-diuretic hormone (ADH) release, driving the dilute urine excretion which causes hyponatraemia https://www.e-jmd.org/journal/view.php?number=194 https://www.e-jmd.org/journal/view.php?number=194 >Previous research has shown dopamine receptors to be altered in fibromyalgia, burning mouth syndrome, and atypical facial pain https://www.practicalpainmanagement.com/resources/news-and-research/dopamines-crucial-role-priming-chronic-pain https://www.practicalpainmanagement.com/resources/news-and-r... >We may have been looking at the wrong thing all along, or we may find that both dopamine and glutamate pathways play a role in RLS. https://www.hopkinsmedicine.org/news/media/releases/restless_legs_syndrome_insomnia_and_brain_chemistry_a_tangled_mystery_solved https://www.hopkinsmedicine.org/news/media/releases/restless...
zaptenodytes 3y ago
Hey, I've read a few of your replies on this thread and wanted to give a (not official advice) medical perspective. I can't imagine what you and your wife are going through at the moment. As someone working in Australia, the US healthcare system sounds even worse than the stories. Firstly, her sodium was initially pretty drastically low for just diarrhoea - almost to the point of seizures - unless she was permanently on the toilet and vomiting, and guzzling water (without electrolytes) - suggesting there may be some other underlying cause worth looking into, if she doesn't have major organ failure normally - heart, liver, kidneys. Secondly, it was absolutely replaced too quickly - though osmotic demyelination syndrome is typically in chronic hyponatraemics whereas if your wife is normally healthy, her sodium should be in the normal range and an acute diarrhoeal illness, whilst a unlikely but possible cause of severe hyponatraemia, would generally be a more acute process. The pathophysiology is essentially that your brain adapts to low sodium and then when electrolytes are replaced rapidly, the brain shrinks rapidly which causes damage to the cells. Thirdly, benzodiazepine withdrawal is absolutely not pleasant and could definitely contribute/worsen symptoms so that sounds like a terrible idea stopping without a taper. Personally, I have never seen ODS/myelinolysis but a normal MRI is reassuring and it technically means the diagnosis is no longer possible - there are cases where early MRIs haven't demonstrated any changes but the evidence states that typically by 4 weeks if there is any damage, a scan should show it. Obviously I don't know what other investigations have been done already, but I hope you and your wife reach a satisfactory resolution, even if it doesn't result in a definite diagnosis - unfortunately there are still many aspects of human health that we don't know about and definitely things exist that we cannot explain. For example, some aspects of the story that you've described make me think of fibromyalgia, which we don't have any good clinical diagnostic test for at this stage - it's just a clinical diagnosis. I'm not saying to give up, but sometimes chasing a definitive diagnosis often ends up proving futile and worsening the whole prognosis - just think about what you and your wife's goals are. Also, on a sidenote, restless legs syndrome is a real condition (I'm not saying she has it but yes, it is real).
- spacedcowboy 3y ago
  Thanks for the insight, it's much appreciated :) I guess I didn't get across what I was trying to say about the "diagnosis" - be it restless-leg syndrome (which I totally agree is a real thing, not trying to downplay it) or one of the many other things they've come up with. The point I was failing :) to make was that they haven't come up with a diagnosis at all really - they're just throwing out there anything that might correspond to one of her symptoms, without addressing something that might be a root cause. IMNSHO :) FWIW, she didn't have any significant diarrhoea - she had a mild instance of it. The thing is that we don't know if she had chronic or acute hyponatremia - she hadn't been for blood tests that would have picked it up in, well, forever, previously to going into hospital. It was news to us that she had it at all - we went in for an unrelated reason (which they told us was benign). From my limited understanding having read up on it, it's possible she did have a long-term hyponatremia issue going on, and her body was just coping with it until it was discovered. They have done lots of blood-tests (metabolic panels, liver-function, urinalysis, various disease-specific tests, etc,) Her blood-work and imaging all come back fine. Anyway, she has more CT and MRI scans over the next week or two, ordered by various specialists. Here's hoping they find something to explain it. I still come back to "9 weeks ago, she was without any of these symptoms. Rapidly fixing the hyponatremia has ruined her life". I don't believe too much in coincidence, so for her to suddenly come down with something else at the same time as a medical treatment that made her go completely non-responsive where she couldn't even say her name is stretching credulity too far for me, unless some extraordinary evidence is uncovered.

tough 3y ago

This could be absurd but have you tried ChatGPT for clues?

CapstanRoller 3y ago

Wild guess (I am not a doctor in the slightest): could it be some kind of dopamine regulation problem? >Dopamine has been shown to facilitate anti-diuretic hormone (ADH) release, driving the dilute urine excretion which causes hyponatraemia https://www.e-jmd.org/journal/view.php?number=194 https://www.e-jmd.org/journal/view.php?number=194 >Previous research has shown dopamine receptors to be altered in fibromyalgia, burning mouth syndrome, and atypical facial pain https://www.practicalpainmanagement.com/resources/news-and-research/dopamines-crucial-role-priming-chronic-pain https://www.practicalpainmanagement.com/resources/news-and-r... >We may have been looking at the wrong thing all along, or we may find that both dopamine and glutamate pathways play a role in RLS. https://www.hopkinsmedicine.org/news/media/releases/restless_legs_syndrome_insomnia_and_brain_chemistry_a_tangled_mystery_solved https://www.hopkinsmedicine.org/news/media/releases/restless...

zaptenodytes 3y ago

Hey, I've read a few of your replies on this thread and wanted to give a (not official advice) medical perspective. I can't imagine what you and your wife are going through at the moment. As someone working in Australia, the US healthcare system sounds even worse than the stories. Firstly, her sodium was initially pretty drastically low for just diarrhoea - almost to the point of seizures - unless she was permanently on the toilet and vomiting, and guzzling water (without electrolytes) - suggesting there may be some other underlying cause worth looking into, if she doesn't have major organ failure normally - heart, liver, kidneys. Secondly, it was absolutely replaced too quickly - though osmotic demyelination syndrome is typically in chronic hyponatraemics whereas if your wife is normally healthy, her sodium should be in the normal range and an acute diarrhoeal illness, whilst a unlikely but possible cause of severe hyponatraemia, would generally be a more acute process. The pathophysiology is essentially that your brain adapts to low sodium and then when electrolytes are replaced rapidly, the brain shrinks rapidly which causes damage to the cells. Thirdly, benzodiazepine withdrawal is absolutely not pleasant and could definitely contribute/worsen symptoms so that sounds like a terrible idea stopping without a taper. Personally, I have never seen ODS/myelinolysis but a normal MRI is reassuring and it technically means the diagnosis is no longer possible - there are cases where early MRIs haven't demonstrated any changes but the evidence states that typically by 4 weeks if there is any damage, a scan should show it. Obviously I don't know what other investigations have been done already, but I hope you and your wife reach a satisfactory resolution, even if it doesn't result in a definite diagnosis - unfortunately there are still many aspects of human health that we don't know about and definitely things exist that we cannot explain. For example, some aspects of the story that you've described make me think of fibromyalgia, which we don't have any good clinical diagnostic test for at this stage - it's just a clinical diagnosis. I'm not saying to give up, but sometimes chasing a definitive diagnosis often ends up proving futile and worsening the whole prognosis - just think about what you and your wife's goals are. Also, on a sidenote, restless legs syndrome is a real condition (I'm not saying she has it but yes, it is real).

spacedcowboy 3y ago
Thanks for the insight, it's much appreciated :) I guess I didn't get across what I was trying to say about the "diagnosis" - be it restless-leg syndrome (which I totally agree is a real thing, not trying to downplay it) or one of the many other things they've come up with. The point I was failing :) to make was that they haven't come up with a diagnosis at all really - they're just throwing out there anything that might correspond to one of her symptoms, without addressing something that might be a root cause. IMNSHO :) FWIW, she didn't have any significant diarrhoea - she had a mild instance of it. The thing is that we don't know if she had chronic or acute hyponatremia - she hadn't been for blood tests that would have picked it up in, well, forever, previously to going into hospital. It was news to us that she had it at all - we went in for an unrelated reason (which they told us was benign). From my limited understanding having read up on it, it's possible she did have a long-term hyponatremia issue going on, and her body was just coping with it until it was discovered. They have done lots of blood-tests (metabolic panels, liver-function, urinalysis, various disease-specific tests, etc,) Her blood-work and imaging all come back fine. Anyway, she has more CT and MRI scans over the next week or two, ordered by various specialists. Here's hoping they find something to explain it. I still come back to "9 weeks ago, she was without any of these symptoms. Rapidly fixing the hyponatremia has ruined her life". I don't believe too much in coincidence, so for her to suddenly come down with something else at the same time as a medical treatment that made her go completely non-responsive where she couldn't even say her name is stretching credulity too far for me, unless some extraordinary evidence is uncovered.