RecipeForDisaster

I only used the sublingual once I switched. No more cyanocobalamin. IMO, there isn’t much risk to 2000mcg, as it’s water soluble and you excrete any excess, but you can try a half to start if you want. I take 5000mcg weekly now. You store 6mg in your liver, so it’s okay to stock up and then ease back once replenished.

My cardiac PET didn’t reveal anything other than scattered bilateral inflammatory/reactive lymph nodes (I’d love to know why). I’m kind of at the end of my diagnostic road here, unless NIH accepts me (the doctor hasn’t finished the application yet). I am very uncomfortable and not sleeping… nothing is helping enough. It’s mostly the air hunger, chest discomfort, and pounding that are the worst right now - still very faint and dizzy, but I’d actually prefer more passing out to this continuous discomfort.

… I saw a new neurologist who repeated my Washington University neuropathy panel(not resulted yet after a few weeks). My IL10 and FGFR3 were quite abnormal last time - I think he is leaning towards another SFN biopsy (last one, from another neurologist, was insufficient but didn’t show anything). After that, maybe IVIG. Has anyone had helpful plans following these tests? My ANA is persistently positive in 2 ways(homogeneous and speckled) and I have positive immunofluorescence on the Mayo paraneoplastic panel, but that’s all. I definitely have neuropathy, but we don’t know why.

I could not tolerate any form of cyanocobalamin, especially injection or even nasal spray. I was critically low. At first I was told it was because it was awakening my damaged nerves, causing a lot of discomfort. Eventually I started sublingual methylcobalamin, which never caused any issues and which replenished and maintained my levels. I don’t seem to absorb swallowed B12 - we lack intrinsic factor in my family (not uncommon - a grandfather actually died of pernicious anemia). 
 

Some people cannot utilize cyanocobalamin… it’s not necessarily the case here, but it sure was for me. Something about it blocking the place where B12 needs to go while not being useful. I do have MTHFR - there are forums for that, too.

23 hours ago, Castorp said:

As far as I am aware, IVIG is a potentially useful treatment for autoimmune mediated dysautonomia and/or SFN. In fact, the results by Schoefieid and Oaklander show that around 75%-80% of their patients experience an improvement with IVIG. Nevertheless, this treatment did not work for me. At least, I did not have any serious side effect, only a mild headache after the infusions.

 

 

Good to know. It’d be worth it if it helped any of my issues. Even just the neuropathy. I got through 5 iron infusions no problem, so hopefully I’d weather this, too. I would definitely pair it with my home hydration. Keep us posted and good luck!

Oh, haha - I already had one of these links open, because one of my physicians authored the paper. He doesn’t seem motivated to go towards IVIG! Go figure. He has my lab results and in many cases, ordered the testing.

3 hours ago, Castorp said:

 

Hi @RecipeForDisaster,

To the best of my knowledge FGFR3 autoantibodies seem to be linked to autoimmune mediated dysautonomia and SFN. In my opinion, this and a positive ANA should be enough to justify the employment of IVIG (and eventually plasmapheresis).

If you are interested, you may have a look at the following papers and discuss them with your doctors:

https://pubmed.ncbi.nlm.nih.gov/33792960/

https://pubmed.ncbi.nlm.nih.gov/30889595/

https://pubmed.ncbi.nlm.nih.gov/32171889/

 

 

 

 

 

Thank you! I will share… I doubt any of them wants to think outside the box that much, but it’s worth a try! I definitely have neuropathy for no particular reason.
 

How did you do with the IVIG, as far as side effects or reactions? I’ve been a little wary to push for it, but I have a lot of potential reasons to get it - my subclasses are all off(although IG2 is always high), I may have myocarditis or sarcoidosis, etc. The latter will probably get me put on steroids to start, so I guess I’d see if I did better. I'm on colchicine until my PET scan. But I definitely have secondary dysautonomia.

I’m intrigued… I haven’t had CellTrend, but I have the elevated FGFR3 at 7000 and a positive ANA(homogeneous and speckled) plus no autoimmune diagnosis (not SLE or RA). What kind of doctors do you have running this treatment? I haven’t found anyone who would do so. It sounds like you have some great doctors!

20 hours ago, Picklesquish said:

I have the exact heart issues. How are the checking for sarcoidosis?

First a cardiac PET scan in January, and then, if that looks suspicious, 6 myocardial biopsies. Ick. I had a little ventricular tachycardia on my latest 30 day monitor  I had not demonstrated that before.

On 12/1/2021 at 4:11 PM, maggs said:

@RecipeForDisaster Ah! I've only been to Boston/New England once but fell in love with it! I hope to one day move to Boston.

Have you had genetic testing done yet? I did a quick search, and I know Alabama isn't super close to where you likely are, but the University of Alabama at Birmingham also offers an Undiagnosed program separate from the NIH (https://www.uab.edu/medicine/genetics/patient-care/clinical-services/undiagnosed-diseases). And Columbia I'm guessing is close-ish to you, they have the DISCOVER program for undiagnosed patients (https://precisionmedicine.columbia.edu/content/rare-diseases). Maybe one of those could help you? I don't know your personal story or symptoms, but sometimes getting into a place that is interested in the difficult cases is all it takes to start heading in the right direction in my experience. If neither of those locations are close enough to you, I can look for more. I'm much more familiar with what's available on the west coast (since that's where I am), but this has become something I'm passionate about and am happy to dig into so you have more options. 

Thanks! I love it here. Boston is good for a day trip, but I’m too much of a country girl to live there. I’ll be there for hospital visits in a couple of weeks, though. I have had exhaustive genetic testing there - they say I’ve definitely got something genetic, but it doesn’t have a known marker yet.

The Columbia program sounds promising! Thank you!

5 hours ago, maggs said:

@CallieAndToby22 I do have Modafinil for really bad days, but it causes tachycardia (as all uppers do), so I can't use it regularly. Mostly I've managed by getting an accommodation at work for a late start and only use the Modafinil when I absolutely have to be up early. It doesn't help with the waking up part (I usually sleep through alarms for hours), but it helps once I'm up with staying awake. I'm hopeful that as I lose more weight some of this will be easier to manage- before my diagnoses my doctors just kinda threw prednisone at me and I gained about 100lbs. Now that things are starting to add up/get figured out I've been able to stay off prednisone and lose about 30lbs. It's all a work in progress. But sleep is so freaking important- it's impossible to feel well when you aren't sleeping (or getting restorative sleep). I wish there was an easier answer out there for each of us. Maybe someday. 

@RecipeForDisaster I'm not sure where you live, but Cedar-Sinai in Los Angeles has the Center for the Undiagnosed (https://www.cedars-sinai.org/programs/undiagnosed-patient-center.html) that's separate from the NIH. I applied to the NIH's UDP years ago and was denied- from what I understand that's pretty common for adults to be denied (they generally accept more kids, but they are looking for genetic stuff specifically). But Cedar-Sinai operates quite different. They do charge a $500 fee to have their panel of doctors review your case, but after that it's all billed through insurance like normal doctor visits. If my current work-up falls through I plan to head to Cedar-Sinai next. But I will say that my new allergist/immunologist seems to be onto something with MCAS and EDS for me. My old doctors tried to rule it in or out years ago without success, so we'll see what comes of it this time around. There's also resources like Grand Rounds (https://grandrounds.com/) and Crowdmed (https://www.crowdmed.com/) that have been helpful for me, though I'll say CrowdMed can be hard to navigate because it's hit and miss on who participates in your case (random people, med students, retired doctors, etc). Obviously there's no guarantee for quality with Crowdmed based off how it operates, but I still found the input useful. As for Grand Rounds, they were able to get a second opinion for me through a fantastic doctor who made some incredibly helpful recommendations. Anyway, just a thought. 

Thanks. That sounds amazing - I wish they did remote care. I’m in the other end of the country in New England. I’d be working with Harvard and I’m already a patient at Brigham & Women’s. I’d definitely try grandrounds and crowdmed, though, what do I have to lose? Thanks!

1 hour ago, CallieAndToby22 said:

I had a sleep study done a long time ago and a big issue was just the constant going to the bathroom so they finally let me unhook myself until I could fall asleep. Essentially it showed tachycardia during my sleep and a lot of alpha intrusions. This was before my diagnosis of dysautonomia but it lead to the diagnosis because my HR was so high! Now I take a beta blocker at night and it has really fixed that but it never feels like I've slept and I can't nap either as the earlier person stated. During my college years I would nap about every afternoon and it helped tremendously because I always had non restorative sleep so for some reason after a nap I would feel like a brand new person and could usually continue my studies, take a walk, and didn't interfere at all with night sleep but actually helped. But with all this adrenaline I haven't really napped or slept well in a long time. I also developed severe tinnitus a month ago and sleep and rest has been extra difficult. I have watched some documentaries on narcolepsy and that sounds awful as well because of the non restorative problems with the sleep and always feeling sleepy, have they offered treatment? I mean I know it entails something for sleep even to the extreme of xyrem and some stimulant or the nuvigil and provigil drugs in the morning. 

 

Best of luck!!!! Hope they accept you. Really sounds like the best program out there for complex medical cases and my friend has had good success with the NIH UD program and they actually just reopened her case so it sounds like they're really trying to help improve her quality of life. 

Thanks! Hopefully they take me. My referring doctor checked for the mitochondrial problems already. Something bad is going on, that’s all we know. My left ventricle is dilated and I have scarring/inflammation in my heart now as well. I just keep getting worse, and it doesn’t really fit any particular disease (unless it’s sarcoidosis which we will check in January).

I’m also trying to get into UDN at NIH. Fingers crossed.

I've had a home sleep study and I do have very well treated sleep apnea, using CPAP.

I have lots of PVCs and bigeminy, which are bothersome. They went away during my exercise stress echo. I am on 2 different beta blockers, one in the morning and one at night, and the night one (metoprolol) is a higher dose. If I go too high (they are trying to increase my dose because the pounding is so bad), I get a lowered HR and a lot more bigeminy. The morning one (acebutolol) is not a high dose and it helps a lot with the PVCs. I was offered ablation and anti arrhythmics. I got put on acebutolol for my HR going to fast, and it happens to suppress ventricular arrhythmia as well. I’m on a 30 day monitor again now… 

I use Biotene tablets that stick to the side of the mouth at night. They don’t help completely, but release slowly, so I’ve found them worth using. I haven’t had a benefit from anything really working all night. 

I’m in the same boat, too. I usually get less than 2 hours of sleep in a night, despite trying everything - supplements, vagal stimulation, lavender, you name it. If my BP wasn’t so low, I’d want to try clonidine. The beta blocker helps but is not enough. My heart pounds too hard for me to sleep. If I do get to sleep, any tiny thing will wake me up, and then I can’t get to sleep again.

I haven’t fainted in front of anyone except my husband. Almost, in MD offices, but not quite. I did so yesterday while on a 30 day Holter monitor and freaked everyone out - it was sinus tachycardia, like I knew it was. I got 2 calls from the monitor company and then, hours later, one from the on call cardiologist at the big hospital. Having a "diagnosis" of HYCH doesn’t mean much - no one has heard of it (few test for it during a TTT, which, by the way, would have been normal if not for the cranial Doppler)and there is not much treatment.

Even my positional neurotransmitters are okay. I never thought I had hyper anything, though. Probably low flow/low volume.

11 hours ago, toomanyproblems said:

I also have almost a complete lack of thirst and have for my entire life. I don't know if that contributed to my POTS but I have EDS and other things that commonly go along with POTS and I don't think chronic dehydration caused those FWIW. 

I really, really struggle to try to stay properly hydrated. It's just exhausting to have to force myself to drink all the time when I have no thirst. When can manage it, I pretty much pee it right off even with salt or florinef and I'm back to where I started. IV fluids only help if it's lactated ringers given over several hours. That can stick with me longer but I rarely see much difference in symptoms and HR. I don't have a port and frequent IVs are not a sustainable solution for me. There is definitely a screw up somewhere in the internal pathways for the control of my fluid balance. I wish someone could figure it out. It may not be every POTS patient's magic bullet but it may be mine if they could figure out what in that pathway is broken.

I do understand that keeping hydrated is very important for me. I might not meet the goals they give us for daily fluid intake but I do the best I can considering how hard it is for me.

Me too - LR run very slowly (8 hours or more per liter!) is what helps, and I don’t have a port or PICC, nor can I get one… so I am choosy about when I use it. It doesn’t help for more than a couple of days if I get 2L.
 

I still force myself to drink all 4 liters daily, but it doesn’t help and I don’t want the liquid. Florinef only gave me edema and no help in my symptoms. It’s so strange.

11 hours ago, TorturedSoul said:

@RecipeForDisasterso strange that IV fluids helP tremendously. I guess you're just not retaining what you drink orally. I had a cardiac MRI along with every other test imaginable. All normal, except autonomic testing. It's unreal how can you feel like DEATH and yet nothing shows. I really do feel like I'm trapped inside this messed up body. I wish I could find answers but it's an extremely slow process. 

Yes, no one really understands my body, including me - I don’t seem to retain fluids I drink, even if they are saltier than IV fluids. I’ve had so many tests I can’t even list them - including nephrology. Even my autonomic testing isn’t blatantly abnormal, except my cerebral perfusion(3rd TTT - others were inconclusive) - I got a HYCH label but it doesn’t explain everything. I look fine to most people most of the time, but I usually feel like I should be in an ICU. I sincerely wish we could lend others our bodies so they could not only understand how bad we feel, but try to figure out what’s wrong with it.

I had a bad time for one day after my second shot, but after my third Moderna, I only had a heavy/sore/tender arm for one day. I wasn’t as feverish/didn’t have chills, muscle aches, or flu like symptoms like the second. 

Wow, you sound like me. My mom and I have similar symptoms (along with my sister and grandmother - all I know is that they are/were never thirsty). I’d pretty much never drink water if it was not for health. We never drank with meals, either.

I do drink 4+ liters of salted water daily, and have for years, to try to treat whatever I have - it has not helped. I can drink nothing or all that and feel the same. IV fluids DO help tremendously. I am now being worked up for cardiac sarcoidosis, which is pretty rare but which can cause dysautonomia (I have signs of it on my cardiac MRI). But that is not hereditary. Good luck! Keep us posted.

I actually had that test done last April.  It was high normal. I have a lab slip to get it checked again, thanks to my thorough hematologist, but it also has iron tests that I can’t do for 4 weeks. I would get the labs drawn twice (18 tests) or see about splitting it up, if I thought it was foolproof. From what I read, this is pretty hard to diagnose, and I am hoping I don’t need a myocardial biopsy.

I may have one of these. Unfortunately, the cardiologist who ordered the testing is the slowest, least responsive or reachable guy I have. I have every symptom of sarcoidosis including, of course, dysautonomia. I also have neuropathy for unknown reasons. I hope I don’t have this, but if I do, I’d like to know ASAP and get it treated. 
 

This was found on a cardiac MRI, which I need to redo, but it hasn’t been ordered. I don’t see the guy until mid December. He does sound worried, but then doesn’t answer follow up questions or move forward. They are redoing a 30 day EKG (I’ve done it twice, no arrhythmia other than PVCs and bigeminy which are now treated) because they are thinking I pass out because of arrhythmia. My heart rate is never irregular or super fast when I pass out… we are confident it’s not that. But yay, I get to wrestle with adhesive sensitivity for another month.

Can you help to explain why many of us get longer/better benefits from running IV fluids very slowly versus a "normal" rate of 125-250mL per hour?

You can try to plump up your veins with warm packs beforehand. I’m going to do that for my iron infusions because I don’t seem to bring my veins to those.

I had a cardiac MRI on Thursday - they are just trying to figure out what’s wrong with me, I don’t know of anything they had in mind to look for. I was surprised that this came up - I don’t think I fit myocarditis but I don’t want to shrug it off, since I am doing so poorly and myocarditis can present in a subtle way. I was just curious whether anyone has had findings like these.

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