Comment by spacedcowboy | Hacker News Reader

Comment by spacedcowboy | Hacker News Reader

Parent Full thread

Because I agree with her that she's not getting the help she needs, but I don't know where else to go.

- Her PCP seems useless - basically a glorified project manager for other expert opinions, and the time taken to get appointments with these experts is straining.

- Going to urgent care, or doing an 'online Dr visit' just gets the advice to go to ER instead, because of the breathing.

- Going to ER (which we have, several times) just gets her admitted to the ER beds, put on an IV for fluids, maybe a chest X-Ray taken, and then discharged after a few hours with a recommendation to go see her PCP.

- the neurologist has been the best of them so far, but she's 30 miles away and we get to see her once per month. I'm grateful for the help we've had from the neurologist, but it's not much use at 3am when she can't breath, again, is in pain, again, and feels like her chest has a bar pressing down across it, again. Going to ER because of this is covered above.

No-one wants to take ownership, everyone (with the exception so far of our neurologist) wants to try and get someone else to "manage this case". It doesn't leave one with the warm fuzzies, especially given the last couple of months.

It has actually reached the point where I've considered - not seriously yet, but it's still there - selling up, leaving the US and going back home to the UK. Myself and my son are citizens by right, I have enough cash/equivalents that getting a spousal visa wouldn't be an issue, and we'd pay the NHS surcharge for a few years - still a lot less than my insurance here. We could even be closer to family for better support. The largest factor against, in fact, is the logistics of simply getting her there, taking a plane seems like a poor option atm, and she gets very seasick even on cruise liners. Once there, having bought a house with the proceeds of the sale of this one, retirement would be pretty easy on me, and maybe a health service more focussed on making people better, over making money, might be better for her.

Can you find a new PCP? One that may not be a good family doctor but can coordinate care.

You are probably already doing it, but I have heard that it is really important to have advocate when patient can't organize themselves. If you can, go to appointments, take notes, and ask lots of questions. Push on uncertainty until get tests and answers. Try and solve separate problems, like Ativan dependency, so can focus on the big one and she feels better. One question I had is what does the treatment for raising sodium too quickly look like and is it worth doing even if the MRI was negative.

Also, I vaguely remember reading about group of doctors that solve medical mysteries. I found an article, https://www.nytimes.com/2019/01/07/health/patients-medical-m..., but not sure one I read.

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 :)

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

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

>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-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...

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).

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.

Thanks, I see now. For some reason I thought you were talking about non-medical help for yourself. I guess you are in some sense looking for non-medical help navigating the medical system itself.

I'm guessing any advice I offer you would have already thought of, but maybe you can pay over the counter for a medical consultant in the UK or anywhere for that matter

You might see if a destination medical establishment like the Mayo Clinic or Cleveland Clinic could be more responsive. These kinds of places are setup so people can fly in, see a bunch of specialists, and get a bunch of tests in a single trip.

Reply on news.ycombinator.com