Temporary paralysis I need your Insights

[anciendaze]

@Jenny TipsforME ,

Just checked on your peculiar nystagmus. This is known to both PP and episodic ataxia patients, even if unusual. The conditions overlap, so this doesn't help with differential diagnosis. I don't think this has appeared in published literature, but it is known to patients with objective markers for the diseases. There is a problem getting statistics when the basic disease is itself rare even before considering unusual manifestations.

 

[taniaaust1]

@taniaaust1 do we pee a lot or are bedpans too small?! Did hear nurse comment on volume of liquid. I think my regulation of fluid balance is often off kilter.

our fluid regulation is off kilter and POTS patients usually have to drink more eg 3L per day recommended for POTS patients. During a bad POTS attack I dehydrate and cant get my blood volume up well so Im drinking even more then I usually but its just going straight throu me so peeing in the bedpans they give me is usually quite ridiculous, not one time have I not ended up all wet. I've had on 2-3 occassions now on hearing this, had nurses actually watch me do it to try to make sure I dont get wet (I still do)

Do you ever get saline when your blood electrolytes are OK? My understanding is it is to boost blood volume in POTS, so not relevant whether the bit of blood they measure has electrolytes. Is that right?

Yes I still get saline when my electrolytes are okay, I have had some abnormal blood tests with that thou with low sodium due to having to drink so much water to try to stop dehydrating (my chloride on that occasion thou I think was high). Also one blood test showed my kidneys were in trouble due to dehydration during a POTS crisis.. doctor feared I could end up with kidney failure due to it and warned me about that due to my test results, so I was encouraged to drink even more throu I already was drinking a lot..its no help when the fluid just goes right throu.

The fluid is given to boost blood volume so the electroytes results arent relevant to if you need an IV or not in POTS. (my hospitals as far as i know do not test blood volume, I've never had that tested). Im so bad when I go into crisis that I need large two bags of saline put into my veins.

I think you said in your post about a vein in your neck pulsating. That happened to me one time but it was like my neck vein had caved in.. sucking actually in then going back to normal, It sucking in very strongly as if my veins were crashing between beats.

From feedback elsewhere, paralysis doesn't seem to be POTS itself strictly speaking, but it is people who have POTS who get it (some of them also have ME like us).

Its probably a case that those with ME with the POTS may simply have worst ME or worst damage the ME has done or is doing so hence also more likely to get worst ME symptoms such as paralyses.

some may be managing to pace better then others so may be able to hide some just how bad the ME is in their case. This is I think the case for me, Im extremely careful with my pacing as a bad crash can leave me in severe trouble (not able to do a thing or even feed myself) .. I may not look so bad thou as Im out of bed a lot but this wouldnt at all be the case if I didnt severely limit what I do each day and only do a tiny amount. I highly restrict to keep my health as it is.

Generally I'm starting to notice that PEM follows from high heart rate/POTS. I know other people are observing this since more of us are wearing heart rate monitors. Probably means controlling POTS main focus for me to also control ME.

and yes. a POTS flare can later cause a ME crash or more likely to later crash. I realised this a year or so ago via symptoms (I dont wear a monitor). POTS crash can trigger off a ME after crash. It took me a very long time 5-6 years to realise that so I suspect many are missing this connection. So POTS shouldnt at all be being dismissed by thinking "I"ll just lay down and go away" as I know some do, it is stressing our bodies out! Avoid POTS if possible.

 

[taniaaust1]

@anciendaze thanks I've not heard of episodic ataxia. Type 2 episodic ataxia sounds plausible I'll look up my SNPs when I'm more alert. Something I forgot to mention to doctors is early on with the paralysis I felt I had to concentrate to keep my eyes still rather than nystagmus like in REM, when I closed my eyes they oscillates. That's mentioned in episodic ataxia.

I do have a diagnoses of ataxia (which was episodic with the ME), I didnt realise that nystagmus was connected to this.

My father has commented to me at times in the past that my eyes shake when Im tired (this is when Im up an awake).. so that nystagmus must be another symptom I get with my ME. I dont tend to notice it myself when my eyes are shaking but I once after someone told me they were doing that looked in mirror and they were shaking rapidly from side to side.

I tend to get a lot of symptoms I may not notice till another points them out to me eg leg shakes I dont always notice when its going on... I'll just feel weak in the legs.

 

[Jenny TipsforME]

@taniaaust1 how would you describe a POTS crisis? How do you decide if bad enough to need to go to hospital?

 

[taniaaust1]

@taniaaust1 how would you describe a POTS crisis? How do you decide if bad enough to need to go to hospital?

For me what I call a POTS crisis is when Ive collapsed and cant even sit up at all without possibly passing out. I can be starting to go into shock (circulatory shock??) at this point (my nail beds even have been noted as pale when this occurs). I can be near "okay" (well what I call okay which wouldnt be a healthy persons ok) but then suddenly go into seizure like activity or collapse due to the POTS eglack of blood getting to my brain due to having been upright for too long or having too many POTS triggers going on eg eatting a big meal combined with heat can collapse me too, ive also had POTS collapse set off by chemical exposures.

I dont get any treatment at hospital (no IV no matter how ill I feel due to POTS) unless Ive collapsed so I dont bother having an ambulance rang for me till Ive collapsed and cant get back up. (note, this is not the correct way of how severe POTS should be being treated, I should be given IVs before i collapse to prevent).

Other symptoms which go along with my POTS collapse is pale all over, trembling, spasming, feeling like vomiting, feeling extremely weak, dizziness, pressure in head, rapid heatbeat iit will be over 100 when sitting), my pulse usually goes up quite high (I have the hyper adrenalinc kind of POTS), more confusion then normal - lots more trouble thinking, blurry vision or even blindness right before a passout.

Once I get a couple of bags of iv, these POTS symptoms right themselves eg my BP then stabilises and I wont be getting tachy when sitting etc

the hospital as its standard procedure to see if someone with any OI issues is ready to go home, likes to test things after the first bag of saline by a 1min standing test (they dont have a clue about postural testing thou but fortunately it does show with me when I still have issues even when this test is done very wrongly without a laying stable reading done first.. they often try to do their one minute test just from sitting to a standing reading).

Every time though (except the one time in which it was fine on one minute test and they then tried to send me home too without the second IV which then had me collapsed on hospital floor before i even got out of building so they had to wheelchair me back to room and on retesting I then to doctors shock was nearly at 200 BP).. I've needed the second bag to bring my BP down to normal range.

 

[Jenny TipsforME]

@taniaaust1 I sometimes get a bit like this but drink electrolyte water, eat crisps, lie down with legs raised until it goes. Easier because I don't live alone (I can't walk to get stuff) but I also have an emergency POTS bag by the sofa with salty things in and compression tights. I've never been to hospital with it so far, judging by my last hospital appointment I wouldn't get any help if I did go...

 

[Jenny TipsforME]

If anyone is having temporary muscle weakness, this is a detailed document to check
http://neuromuscular.wustl.edu/mtime/mepisodic.html

I'm thinking about this again in terms of explaining it to my POTS doctor next week.

Also, I got concrete legs yesterday with POTS style light headedness. I previously had a frustrating appointment with my cardiologist POTS doctor because I felt he was trying to pass the buck by saying my heavy legs weren't POTS (they're worse with other POTS symptoms and get better using POTS drugs and techniques, plus other POTS patients get this, I think it's blood pooling). Perhaps though there's something else though that's often comorbid and could sometimes cause more dramatic weakness/paralysis? This could explain why to me the paralysis felt quite POTS like.

Something I came across today on LiveWello is that I seem to have some genetic risk factors for Andersen Syndrome AKA Andersen–Tawil syndrome.
It's a form of periodic paralysis. Has anyone heard of it? Some symptoms signs are very interesting others just don't fit. eg it is potassium related but tests can be in the standard normal range. You can get fluctuating muscle weakness as well as paralysis. Can have fainting associated with tachycardia (which makes me think comorbid POTS could be a thing). I don't have long QT though which seems to be one of the main signs.

When my POTS is bad I take electrolyte drinks. They have potassium as well as sodium.

It sounds like Anderson Syndrome can be comorbid with myasthenia gravis.

Just a random theory.

 

[duncan]

I think I mentioned earlier in this thread that you may wish to look into ATS, i.e., Andersen-Tawil Syndrome. I am fairly familiar with it as I have a family member with it and have met with Tawil to discuss the disorder.

Three broad categories of manifestations: facial/skeletal, cardiac abnormalities, and of course, muscle weaknesses that can manifest as paralysis at times. It is technically a periodic paralysis disorder, a type of muscular dystrophy, but eh, ultimately it is an ion channelopathy, i.e, a potassium channelopathy.

You can have any one of those symptoms, all or none or any combination.

It is pretty rare - maybe 50 to a 100 diagnosed worldwide. It can be confirmed by via genetic testing - the KCNJ2 gene mutation.

 

[Gingergrrl]

but eh, ultimately it is an ion channelopathy, i.e, a potassium channelopathy.

Why is everything seeming to be a channelopathy these days and why do so few doctors have any knowledge of these diseases/auto-antibodies? I feel so bad for Jenny, the original poster, and how she was treated at the hospital. Am hoping your family member with ATS is getting good care. And hoping Jenny that you are getting better care now, too.

 

[Jenny TipsforME]

@duncan sorry if you mentioned this ages ago and I missed it. I'm a bit confused about the genetic side. This is the list from LiveWello

KCNJ5 FOR ANDERSEN-TAWIL SYNDROME, PERIODIC PAR...
SNP rsID Minor Allele Genotype Phenotype
C11ORF45 rs11221503 T TT +/+
C11ORF45 rs2846699 C CT +/-
C11ORF45 rs3740835 T GG -/-
C11ORF45 rs3765619 G - NG
C11ORF45 rs4937384 C CT +/-
C11ORF45 rs4937387 C - NG
KCNJ5 rs11221512 A - NG
KCNJ5 rs1317470 G AA -/-
KCNJ5 rs1940455 A GG -/-
KCNJ5 rs2846700 C TT -/-
KCNJ5 rs3867250 T - NG
KCNJ5 rs4937390 T TT +/+
KCNJ5 rs6590357 T CC -/-
KCNJ5 rs7118824 T - NG
KCNJ5 rs7118833 T CC -/-
KCNJ5 rs7924416 T CT +/-
KCNJ5 rs7941582 G AA -/-

This is dominant so the hetero ones are risks too. The KCNJ2 one isn't on the list which is odd. I'll look that up next.
I haven't had energy to look them all up but eg the first homo one isn't super rare. I'm not sure if these are really the SNPs in question if it is that rare a condition, or perhaps the epigenetics are unusual?

I also have 13 hetero, 3 homo SNPs supposedly to do with periodic paralysis but should probably check that those are genuinely relevant too:

CACNA1S HYPOKALEMIC PERIODIC PARALYSIS
SNP rsID Minor Allele Genotype Phenotype
CACNA1S rs10159219 G - NG
CACNA1S rs10449267 A AG +/-
CACNA1S rs10920103 T GT +/-
CACNA1S rs10920104 T - NG
CACNA1S rs10920106 T - NG
CACNA1S rs10920115 T - NG
CACNA1S rs11811602 A - NG
CACNA1S rs12022389 T CT +/-
CACNA1S rs12119957 G TT -/-
CACNA1S rs12131939 C - NG
CACNA1S rs12135240 C TT -/-
CACNA1S rs12139527 G - NG
CACNA1S rs12239772 G - NG
CACNA1S rs12405259 A GG -/-
CACNA1S rs12409138 T CC -/-
CACNA1S rs12561765 T - NG
CACNA1S rs1325311 G - NG
CACNA1S rs1325313 C - NG
CACNA1S rs1546416 G AG +/-
CACNA1S rs1574408 G - NG
CACNA1S rs16847613 A AG +/-
CACNA1S rs16847669 T - NG
CACNA1S rs17454870 A - NG
CACNA1S rs17454947 A CC -/-
CACNA1S rs1998721 A GG -/-
CACNA1S rs2038845 A AC +/-
CACNA1S rs2281845 C CC +/+
CACNA1S rs2296383 A AG +/-
CACNA1S rs2296384 T CT +/-
CACNA1S rs2296386 A AA +/+
CACNA1S rs2297901 T GT +/-
CACNA1S rs2297903 A AC +/-
CACNA1S rs2297904 A - NG
CACNA1S rs28930069 - GG NF
CACNA1S rs3753960 A AG +/-
CACNA1S rs3767498 A GG -/-
CACNA1S rs3767499 C CT +/-
CACNA1S rs3767503 A - NG
CACNA1S rs3767507 T - NG
CACNA1S rs3767508 T - NG
CACNA1S rs3767511 C TT -/-
CACNA1S rs3818873 C - NG
CACNA1S rs3820422 G - NG
CACNA1S rs3820423 A - NG
CACNA1S rs3850625 A - NG
CACNA1S rs4915215 T TT +/+
CACNA1S rs4915476 A GG -/

 

[Jenny TipsforME]

@Gingergrrl I think our care is generally inadequate. At least my GPs are nice and believe I'm ill. At least I got a POTS diagnosis and some treatment. Many people haven't got that far yet.

Thanks for your good wishes.

 

[Jenny TipsforME]

@duncan on KCNJ2 I don't have the risk so I need to look up what those other results are. It seems to be from a study looking at alternative mutations for Andersen Syndrome

 

[duncan]

Pretty sure it's KCNJ2, but I'm doing that from memory, albeit recent. I think 60% of ATS peeps have that mutation - the other 40% do not and it's unknown from what it arises in them.

When I say 50 to 100 diagnosed worldwide, because of its nature, there are likely many more undiagnosed. For instance, the pp can manifest as a general and pernicious muscle weakness, cardiac abnormalities just a mild arrythmia , and skeletal abnormalities merely a crooked pinkie finger and 2 webbed toes. Who would ever suspect ATS? But that pernicious weakness...the arrythmia joining later in life with a slowly developing cardio-myapthy - and you have symptoms that overtly mirror ME/CFS. NO 2 ATS patients are the same.

Incidentally, the Long QT component is atypical, too, and can be missed.

Ah - good about not having the risk. I'm not sure about the import of those other genes.

 

[Jenny TipsforME]

If anyS ne else is interested in what CACNA1S periodic paralysis means

CACNA1S
Normal Function
The CACNA1S gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.

The CACNA1S gene provides instructions for making calcium channels that are abundant in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain ions into muscle cells. Channels made with the CACNA1S protein control the transport of calcium ions into muscle cells and are part of the cellular machinery that initiates muscle contractions.

Channels made with the CACNA1S protein also activate a protein called ryanodine receptor 1 (produced by the RYR1 gene). Ryanodine receptor 1 forms a channel that releases stored calcium ions within muscle cells in response to certain signals. The resulting increase in calcium ion concentration stimulates muscle fibers to contract, allowing the body to move.

 

[Gingergrrl]

Jenny, from reading your quote box above, am now confused. Is that box about calcium channelopathies or potassium ones (or both?)

 

[Jenny TipsforME]

@Gingergrrl
Yes you're right. Too tired to work it out now.

 

[Gingergrrl]

@Gingergrrl
Yes you're right. Too tired to work it out now.

Actually I have no clue if I am right and never figured out how to read 23andMe or any genetic stuff! Was just curious if the box above pertained to calcium channels and something that would be appropriate to show to a doctor?

 

[kangaSue]

Jenny, from reading your quote box above, am now confused. Is that box about calcium channelopathies or potassium ones (or both?)

CACNA1S gene codes for L-type voltage gated calcium channels, KCNJ genes are the potassium channel family.

I think I mentioned earlier in this thread that you may wish to look into ATS, i.e., Andersen-Tawil Syndrome. I am fairly familiar with it as I have a family member with it and have met with Tawil to discuss the disorder.

Three broad categories of manifestations: facial/skeletal, cardiac abnormalities, and of course, muscle weaknesses that can manifest as paralysis at times. It is technically a periodic paralysis disorder, a type of muscular dystrophy, but eh, ultimately it is an ion channelopathy, i.e, a potassium channelopathy.

Antibodies can cause channelopathies leading to genetic alteration. Getting tested for voltage gated calcium channel (VGCC Ab) and voltage gated potassium channels (VGKC Ab) antibodies might be worth looking into doing.

 

[Gingergrrl]

CACNA1S gene codes for L-type voltage gated calcium channels, KCNJ genes are the potassium channel family.

Thanks!

Antibodies can cause channelopathies leading to genetic alteration. Getting tested for voltage gated calcium channel (VGCC Ab) and voltage gated potassium channels (VGKC Ab) antibodies might be worth looking into doing.

So this means that the 23andMe (or other genetic data) could be totally normal and then someone develops a channelopathy later in life?

I agree with @kangaSue that @Jenny TipsforME you should get tested if you can to see what is going on now (vs. in the genetic data) if I am understanding correctly. I am positive on the N-type calcium Abs (not the L-type or P/Q type) and am negative on the Potassium Abs. I have never had a single episode of paralysis but I do have muscle weakness in general, breathing issues, POTS and other crap. Am not sure how this compares to your symptoms, Jenny, but I think you said above that you have a decent GP so maybe you can get tested?

 

[Jenny TipsforME]

@kangaSue @Gingergrrl it is hypokalemic pp but they don't know why associated with the calcium channel SNPs!

At least four mutations in the CACNA1S gene have been identified in people with hypokalemic periodic paralysis. These mutations cause up to 70 percent of all cases of this disorder.

Mutations in the CACNA1S gene change single protein building blocks (amino acids) used to make the CACNA1S protein, which alters the structure and function of calcium channels in skeletal muscle cells. The altered channels open more slowly than usual, reducing the flow of calcium ions into these cells. This disruption in calcium ion transport prevents muscles from contracting normally. It is unclear precisely how these changes lead to episodes of muscle weakness in people with hypokalemic periodic paralysis.

https://ghr.nlm.nih.gov/gene/CACNA1S#conditions