neuro today, gone tomorrow

I saw the new neurologist yesterday.  I saw him once before, this is someone who was trained in autonomic function and who has opened one of the only autonomic function labs at a hospital in my area.  Yesterday’s appointment was a follow up to talk about blood test results (negative) and where to go from here.  Oh and to let me know that he’s taking a leave for at least a year because his mother is sick.


I liked him.

This is the second neurologist I’ve had since moving back to Big Historic City in 2009 who has left his practice.  He’s trying to do it right.  He says that the practice is going to try to find someone with autonomic dysfunction training to replace him and that he’ll be here until the end of April, asked me to check in by phone or email before then.

So what’s new from the appointment?  Other than “Good bye new neurologist?”  My bloodwork was negative for Antiganglionic acetycholine receptor antibodies and antineuronal antibodies.  That’s good, it means it’s unlikely that it’s cancer and less likely that it’s autoimmune autonomic ganglionopathy.  Then what is still on the table, Mr. Patient asked my soon to be former neurologist.  The most likely is the Ehlers-Danlos, other than that, there’s also mitochondrial disease – it’s hard to diagnose and not very treatable.  Well, better the devil I know, so I’m going with Ehlers-Danlos.

One interesting thing that did come of this appointment.  Sleep.  I don’t sleep well anymore, had a sleep study and I saw it as relatively useless since it just said what I knew going into it:  I don’t sleep well. I fall asleep but I wake up a lot, so much that it basically turns my night into a series of small naps rather than good, restful, sleep.  My soon to be former neuro said that he’d been trying to get the results of my sleep study but failing.  “Oh I can get you those” I say.  “They recommended a follow up study with a CPAP because I guess they say I might have upper airway resistance syndrome….whatever, I just wake up every night in the middle of the night drenched in sweat.  I doubt it’s gonna help that.”  Turns out that I am very wrong about this.  I should have realized, I don’t sweat.  Unless I’m passing out.  That should’ve been a clue that the waking up in sweat was something other than being overheated.  My soon to be former neurologist explained (and I won’t do it justice here, so pardon my paraphrasing):  when you have something like sleep apnea or upper airway resistance – they’re really kind of the same thing, just a little difference in the mechanism and severity – it can activate a sympathetic response (hence the sweating).  There’s also evidence that it can contribute to the development of cardiac arrhythmia.  Hands up, who just had two weeks of intense palpitations and a racing heart rate for no good reason?  Oooh, oooh, me!  I did.

Ok, to sum up, what he’s telling me is that the waking up drenched in sweat is probably caused by the airway obstruction rather than in addition to (which is what I thought), and that this potentially has much further reaching consequences than a bad night’s sleep.  I’ve done a bit of reading since the appointment, and it sounds like it’s a sort of “chicken or the egg” thing with regard to autonomic function too.  I.e. bad one makes for bad other, although which one comes first is up for grabs.  But maybe fixing the sleep could help with some of the autonomic function.  Gosh that’d be swell.

Now, I just need to get my ass into the sleep lab in the next week or two and maybe this will all have been worth something.

Which antibody?

I just got a call from my primary care’s nurse asking me “hey Dr. ________ thinks you had autonomic antibody labs done, do you remember which labs they were?”  Now one thing you have to know…these are not common labs.  The one in particular that they were thinking of is the serum ganglionic AChR antibody which goes with Autoimmune autonomic ganglionopathy (AAG).  Never heard of it?  Don’t feel bad.  Most doctors and labs have not either.  And if you just say “anticholinergic antibodies”, odds are you’re gonna get the wrong test.  Gotta be specific, especially on the ganglionic part.  This call wasn’t about me, or my medical record.  It was about another patient who he wanted to order this lab on and wanted to make sure he ordered the right one, where did I have it drawn, who ordered it, etc.   I almost asked if it was my cousin (our parents were adopted from different birth families, we were not raised together nor did we see each other often, but we share a LOT of medical problems….and she just started seeing my PCP this past November) but decided that would be crossing a line.

So there’s another reason I love my primary care.  He knows I came into his office with papers about AAG last Fall, telling him this is what I want to check for. And not only does a patient researcher not freak him out, he sees this as a resource.

Down a quart

Had bloodwork yesterday.  This is bloodwork ordered by my PCP and when that man orders bloodwork, he does not mess around.

Anti-ganglionic antibodies and a host of immune tests…I think I got all the complements drawn, crazy shit the lab had to look up.  This is because you’re not supposed to get chronic mucosal thrush infections, apparently, with an intact immune system.  So we’ll see how this goes.

getting it wrong

I finally have my appointment with the runner up very special specialist today.  I’m not sure that she’s very special, but she did a fellowship at the BI-BATH’s autonomic center and she’s who is available, so off we go.  For an 8:00 appointment.  It’s costing me work cred and bowel function so golly I hope it’s worthwhile.

In preparation for this appointment, I got a copy of the tilt table test, the most recent one for which my PCP wrote a short but thorough referral citing the gastroparesis with significant unintentional weight loss, hypotension, orthostatic intolerance, and references the 2010 tilt test with syncope in his a request for a work up for autonomic dysfunction.  On this year’s tilt test, in the “referring Dx” section, it says simply “lightheadedness”.  Well that’s not right.

I think today, for the first time, I will actually go in armed with papers.  I don’t usually do this because my sense has been that it puts doctors off.  But there are two really specific things that they need to check on and playing the “not too knowledgable” patient has, so far, not gotten me very far.  Here’s the Mayo clinic’s Autoimmune Dysautonomia Evaluation Testing Algorithm and the Mayo Clinic’s Paraneoplastic Evaluation Algorithm.  A bit of overlap, which means a bit of “two birds, one stone”.  Shouldn’t be too tough to run, I just need someone to order, interpret, and follow up.

Here’s hoping that’s what I get.


With a chronic, mystery/rare illness, you get used to negative results.   Especially in the early stages, and of course you know that “early stages” can span years.  A 2010 paper in the Journal of Neurology puts the median time from onset of first symptoms to diagnosis of multiple sclerosis at 24.9 months.  A 2006 article in the Journal of Rheumatology gives a mean time to diagnosis of 2.4 years for Scleroderma.  So you get used to hearing “your bloodwork was normal…” over and over.  Often, this news is delivered by phone, and I do appreciate that, often.  Not always. When you’re not one of the “worried well”, a negative test does not mean “whew!” it means “Well ruled that out I guess.  Now what?”

I had bloodwork done about two weeks ago for antineuronal/antineural antibodies.  The reason I asked for  this test is two-fold:

  1. My primary care had been beside himself with my GI doc’s apparent acceptance that my body just does gastroparesis now.  “That doesn’t happen just like that, not unless you were poisoned or something.”  I explained to the PCP that I have had some symptoms, like early satiety, pain after eating, nausea, pantoprazole refractory heartburn…all for a while, all of which I minimized or explained away.  Nausea?  Migraines.  Early fullness and abdominal pain after eating?  Don’t eat enough because of the lower gut triggering effects and my stomach shrunk.  Pantoprazole not helping with the heartburn?  Must have eaten something bad, better take it easy for a few days, no chocolate or tomato.  I’m very good at minimizing and explaining.  Also, I pointed out to PCP, GI crap goes with EDS and with what I can only loosely called “autonomic fuckery”.  So I was sort of primed to accept the GI doc’s apparent resignation about not digging around for addressable causes for this.  Not happy about it, but not really ready to take it on.  Not then.  Still numb.  But now it’s been a few months.  Now I’ve been eating a liquid diet for a while and I’ve lost a lot of weight and any deviation from this diet plus reglan brings the severe symptoms raging right back.  Now, I’m kind of ready to ask “wtf?”
  2. Back in April when first researching gastroparesis, I found a reference or two that paraneoplastic syndromes from certain cancers can cause it.  After the PCP kinda freaked out in June, I looked this association back up and found quite a few references to it (e.g., this paper, “Small cell lung cancer with positive anti-Hu antibodies presenting as gastroparesis“).  I should mention that I had actually initially thought of asking the GI doc for a blood test back in May, but again, see the end of (1) above for why I didn’t.  But since PCP wanted to look for causes, I took this to him.

That brings us up to the bloodwork, which my PCP ordered after I brought my request for it to him, and which I had drawn on June 26.  I’ve found that immunology stuff usually takes at least a week, this was really the first chance to check in on it. So I called today, left a message, expected phone call back saying all was normal.  Instead, I got the RN telling me “we got your labs back but I can’t explain it, he says he wants to see you.”  Soonest I can get in is next Wednesday, the same day I’m having my tilt table test and a day before the inlaws arrive (oh yes, the inlaws are coming).

Well this is going to be a tough week to get through.  Hoping a PET scan is not in my future.

It’s a small world

My nature includes a strong sense of self composure and discipline.  Oh that’s not to say I don’t act like an idiot, I surely do.  But here’s an example of what I mean, as it relates to someone else’s sickness.

In 2003, my then live in boyfriend, T, got very ill.  He had type 1 diabetes and so any serious illness was always extra troubling, even more minor ones could mess with his blood sugar in bad ways.   This particular time, T woke up in the middle of the night with intense abdominal pain.  He proceeded to power puke a few times and just had that “oh boy are you sick” aspect.  So I took him to the hospital.  Lots of screwing around in the ER.  The only thing of note (aside from his sugar being high, oh yeah and the horrible pain that he still was in despite the morphine) was that his lipase was 10 times the high end of the normal range.  After much debating, the ER doc admitted him.  He was in the hospital for a week while they ran various tests and waited for the pain to subside and the lipase level to come down.  Our apartment was a half hour drive away, and it was winter.  We were both in grad school and I remember that despite having a large group of friends, and despite T’s family being local, I was having a hard time finding someone to go to our apartment and feed my cat while I was at the hospital with T.  T’s mother and grandmother were at the hospital as much as I was.  I would come in the morning before class or having to feed the cat because if you aren’t there in the morning, you miss rounds and you have to rely on your drugged up loved one or his useless family to tell you the details of that day’s medical events/doctor thoughts, leave, then come back and have dinner with T and go over whatever results were to be had, then go home.  Leaving him was hard.  Not being there when the doctors randomly showed up to report on some test was hard (T’s family were useless with medical information.  it slid off their brains like water off a duck’s ass), going home and going to bed instead of staying up all night on the internet looking up tests and doing what I call “functional fretting” was hard.  But I did leave, I did go home and take care of our lives so it wasn’t a mess when T got out of the hospital, I did feed myself and sleep so that I wouldn’t also get sick (I had fatigue, hypoglycemia, and joint pain but overall, my health wasn’t as bad then – the GI stuff didn’t kick in until mid 2004, the spontaneously and chronically subluxing hip not until 2005, the overheating/flushing not until 2008).  Let me repeat:  it took an immense and very pointed effort to redirect some of my energy to taking care of myself so I could take care of him but I did, because that, as they say, is how I roll.

So here we we are in 2012.  Taking care of myself is a full time job.  When I say I have a strong sense of self discipline, what I mean to say is that I have all the normal desires to do and go and live outside a small, narrowly defined world but I also have plenty of experience at giving in to those desires only to find that I have to give up doing something else, like say, working.  Just like with T, I end up in a sort of divided mental state.  I am patient and nurse for myself.  Nurse is the best word I can think of since it combines aspects of social worker, occupational therapist, and parent.  I have to tell myself “hey dyspatient, I know the house is a mess and you really want to do nothing more than spend the next three hours immersed in a two-story cleaning fit, but….you did that a few weeks ago on a short work week no less and you were exhausted and in pain going into the work week.  Every day of the week, you had an episode of near syncope at work.  Remember how much that sucked?  yeah.  All because on the weekend, you overdid it.  You got so wrapped up in cleaning that you put off eating until you were done with just this one more thing, but one more thing lead to one MORE thing after, and the next thing you knew, your blood sugar was 61 and you had drank nothing but coffee until after noon.  Consequently you were staggering around like a drunken fool which meant you over reached and positioned yourself badly while you were sweeping, scrubbing, and vacuuming and ended up pulling several joints out of whack so badly that you had to use a cane the next week….so how about we NOT clean today?”

The patient in me says “but surely I can clean a little…”  And the occupational therapist says “no, other people can clean a little.  You, apparently, cannot.  And until you find a way to clean just a little, you are forbidden to clean on the weekend before a busy week that you need all of your limited resources for.”

You know what else the patient would like to do?  Go out to brunch with an old friend.  But if I do that, I may exhaust my day’s energy.  It feels like a low energy day, and I need to conserve some to help make food for the week.  So no brunch for me.  It’s laundry, rest, eat, rest, cook, rest, cook some more, rest, fold clothes, rest, eat, rest, bed.  That’s my agenda.  It makes for a small world.  Couch, bed, bathroom, and kitchen.  Husband and cat, and no spontaneous brunch with a friend who may not last much longer since I never seem to be able to go out.

This is not a pity party.  And I’m not feeling like it’s all on me.  I’d actually be much happier if my friends could configure their expectations around my abilities and not get their noses bent out of shape if I can’t go out.  We can still talk.  My many rest periods allow for a phone call.  This is just me thinking about these choices I have to make.  I do feel that I have a choice, and sometime I choose to overextend.  Not today though.

Am I blue?

When I was very, very young, my mother tells me, the doctor had to take me over and hold me up to a window to see my pupils.  “That’s how dark brown your eyes were!” she says.  They aren’t that dark now.  They’ve faded some, which is good because in my pale, long face, nearly black eyes look super creepy.

One thing that she never commented on but which I noticed was the blue tinge to the whites of my eyes.  Having read somewhere that blue tinged sclerae (yeah, I now know the word…we can thank Dr. Ex for adding this to my vocabulary) were associated with beauty – read it in some fashion rag or something that advised using blue eyeliner to make the whites of your eyes seem whiter, I always was aware of this blue tint.  I hadn’t given it any thought recently though until running across it listed as a sign of Ehlers-Danlos/connective tissue problems, which I was recently told I probably have.

Ok, so how blue are they?  We’re not talking 1984 Dune spice addict-blue, but they’re fairly blue.  I took some pix this AM, a few by ambient room light in two different rooms and one at the window just when a watery sun was coming out.  Here there are.  Judge for yourself.  Am I blue?


Close up photo of woman's left eye.  Brown iris and blue tinted sclera.

Ambient room low lit.


close up photo of woman's eyes.  Brown irises and blue tinted sclera.

Ambient room and window lit.


Close up photo of woman's eyes.  Brown irises and blue tinted sclera.

Day lit with weak sun.

As a point of comparison, here are some (links to) images from sites on EDS and blue sclera:

From Rheumatology image bank, Ehlers-Danlos Syndrome Type IV: Blue Sclerae

From Clinical Challenge, Patient With Anemia and Blue Sclerae

From Rush University Medical Center’s Connective Tissue Disease Clinic, blue sclera in Osteogenesis imperfecta.

I know that blue tinging is also a sign of iron deficiency, which, given my current nutritional status would hardly be surprising.  Two things suggest that this is not the cause though.  1st is the long standing, non-fluctuating history of my eyes having this color.  2nd is that my primary care has checked my iron and ferritin levels in the recent past and they haven’t hit a flagged level (although my RBC is slowly and steadily dropping and I do have some lab evidence of pernicious/macrocytic anemia – MCV is always a bit high, RDW is usually low, which I think means that most of my red blood cells are on the big and bloated side).


I typed a text message to my husband while I was in the parking lot at work, on my way out, overheated and flushed and yes, a bit itchy.  “Gonna get my bloodwork done” was what I had meant to write.  Autocorrect changed it to “bloodbath”.  Heh.

I went to the closest lab, which was run by Quest Diagnostics.  The closest because they close at 4:00 and I’m trying  to limit how much time I miss from work and my symptoms are much more likely to flare in the later afternoon/evening hours. This was the first time I’d gone to this particular Quest facility and wow, no bed/couch.  Just the chair.  That would be the rigid high chair that you sit in, the one that practically begs you to pass out.  Thank you Quest.  They should post that on their website: “This facility would not be ideal for patients who pass out”, even in fine print. I would read it.  They post the hell out of crap like which facilities do drug tests and when.  I guess that the mere patients just don’t rate high enough for Quest to be bothered putting in beds or telling you which facilities don’t have them.

The reason I find the chair so objectionable is that I’ve done the chair at Quest, at another one down in the New England Outback some years ago.  And I started to pass out after being bullied into using the chair.  And the tech did not help me out of the chair or help me at all, but instead looked at me on the floor (which is where I had gone to on the premise that I’d rather go there voluntarily while I was still semiconscious than involuntarily like a sack of potatoes) like I was a dog that had pooped on her carpet.  Me all sweaty and retching on the floor and her just looking as useless as she was.  Lovely.  So I always ask for a bed.  But not today.  Nope.  No bed.  And no time to go elsewhere.  And this draw (tryptase) was hard enough to schedule, because it had to be while I was symptomatic.

It wasn’t a raging symptom set I was having, but I was moderately symptomatic and actually had the ability to leave work early enough to get to a lab before it closed – at 4:00.

I’m going to try to do the urine collection this weekend and drop it off Monday.  Gosh, it’d be swell if the lab was open on the weekend, but they are only open alternate Saturdays not on or too near a holiday.

I’m so happy the week is over.  Been a bit of a stressy week.  I’m hearing bad things about the accommodations at work, just found out we’ll have to move in June-ish (June or July), so….gah.


want a giraffe?

It’s technically called borborygmi, but I call it “balloon animal time”.  It’s when my gut is all twisty and noisy.  Since mid-January, it’s been working overtime on the balloon animals.  When I can stand to, I eat like there’s no tomorrow (i.e. on the weekends, when there is a tomorrow but not one that requires I launch myself out of bed before my gut has had time to grow accustomed to the idea).  But when tomorrow is coming, and it requires that I get up and out fast, dinner is often broth.

And I am hungry.

But I need to get to work, which means I need to not be parked on the toilet for hours each morning.


This week’s highlights include:

  • Work accommodation stuff (I’m told that HR will be meeting with my boss for a final round of going over stuff – this kills me since I had thought that the interactive process of requesting and granting accommodations meant it would be interactively involving ME.  Apparently not so much).
  • A visit to the oral medicine people since the mouth sores are coming back.
  • Ramping up for midterms at work, always a stressful time.
  • Lots and lots of anticholinergics.
  • Hoping again to find the time, the right time, to get my blood drawn for a tryptase level.

Thank god it’s a four day week.


What a week.  Actually, 1 and 1/2 weeks.  It’s been tough.  Abusive coworker, meeting with HR to present my complaint against abusive coworker, meeting/interrogation with HR on accommodations, doctors appointments (what had been just the one turned into, jeez, three), presentation at work (I kicked ass but not before abusive coworker came in and threw a nasty little barb at me for going to HR about her behavior).

Yesterday was doctor’s appointment #3 and the last hurdle of my 1.5 weeks of extra crap.  The endocrine appointment, following up on the carcinoid work up.  Last time I was there, my husband was with me.  We didn’t plan it but we ended up doing “bad cop, other cop” with the attending and the fellow.  This time, my husband drove me in but had to go to work after.  I was pretty anxious about this appointment.  My husband said that AM “I think we should have specialist merit badges…” “Oh you mean like in girl scouts and I can wear them all on a sash?” I asked.  “Exactly!”  In fact, I love this idea for totally perverse reasons (which constitute the manner in which it was meant I’m sure).  I’d extend it to include badges for the various diseases and conditions that have been considered or applied to me in the course of the last nearly ten years of apparently inexplicable poor health).  We discussed whether endocrine’s badge should be thyroid, adrenal, or pancreas shaped.  Given how many endocrinologists these days are basically just diabetes docs, we decided pancreas.

So it was without my funny, strong husband that I faced this endocrine appointment.  A bummer.  I waited the usual half hour to 40 minutes past when my appointment was to start and then the fellow came out to get me.  In the exam room, she starts with talking about my last appointment, recapping what they had been looking for since then – i.e. the reasons for the tests.  She mentions my husband, and I swear she actually scanned the room like a cat looking for a dog its sure is in there and said “Your husband’s not here today?”  I laughed.  I laughed more telling my husband.  “You made quite an impression I think.”  He says we collectively did and promises to come to my next appointment with them. Because there will be a next one.  My 5-H1AA and somatostatin levels were normal.  “Are you still symptomatic?” the fellow asked.  I was good at controlling my response – because the natural one would be “well DUH!  I’ve had them for 8 years now.  What the hell do you think?!”  I said yes, and that I seemed to be a flare up of the GI symptoms.  She asked me how often I had a “movement”.  “5 today between waking up at 6:30 and leaving the house at 8:30”.

Now, I know I’ve told them and other doctors that I have diarrhea, that it is chronic as in daily, and that within that chronic pattern there is room for fluctuation in that some times I am going to much I can’t eat without triggering a hasty trip to the restroom.  I guess they just forget this.  She seemed surprised.  She gets the attending, they consult, we discuss.  “What about breakfast?” the attending asks me when we are discussing my GI symptoms.  “Oh I stopped eating breakfast a long time ago.  I’d never get out of the house.  Usually I can eat by about 11 or 12, but right now I’m just avoiding meals until I get home from work.”  We talk about the flushing and heat intolerance, when it happens.  They discuss whether to “present” me at a conference, then the attending asks  “co you ever get rashes or itching?”

Do I?  When medical history/intake forms have “itching” as an option, I always check it.  I have reliably written under “allergies” on  medical history forms the following: “NKDA; skin/dermatitis with aloe, some detergents, some metals, some elastic materials, and other unknown substances”.  The list is long and I have never had allergy testing.  Why bother?  Why have someone actually MAKE me blister?  No thanks.  I passed.  I always patch test and if a new product comes with even a little tingle of an itch, I stop using it immediately (lesson learned the hard way after Almay Hypoallergenic liquid eyeliner left me looking like I’d applied a thin line of acid to my eyelids – I spent the week with horrible zombie eyes).

And so another test, for mastocytosis.  This time when I’m “symptomatic” as in when I’m flushing.  It’s tough because that is more likely to happen spontaneously in the evening but I can induce it by overheating myself.  Yes, do that.  And get your blood drawn within the hour, I am told.  Oh they’re going to love  this at work.

I had run across mastocytosis before, in fact when I google “diarrhea” + “flushing” + “hypotension” this link to a New England Journal of Medicine blog post about mastocytosis is the second hit and starts off:

In this week’s Case Record of the Massachusetts General Hospital, A 37-year-old man was admitted to the hospital because of flushing and hypotension with near-syncope. Similar episodes had occurred with increasing frequency during the past 12 years. The symptoms were usually provoked by physical exertion, mental stress, or intense emotion, and lasted up to 12 hours.  

Sounds familiar, doesn’t it?  I didn’t follow up on mastocytosis because at the time I had run across it, my CBCs had been pretty normal (with the exception of the apparently inappropriately large red blood cells, which I assumed is from PPIs/vitamin deficiencies).  However, they are not as normal now.  For the last year, my RBC count has been dropping and is now reliably low every time I have a CBC (and keep in mind that I am chronically dehydrated from the diarrhea, so if the RBC was falsely anything on those draws, it was falsely high).  Most recently, my hematocrit has dipped down out of the reference range.  I do not have a uterus anymore so we can’t just say “oh she probably has her period and so she’s a little anemic from that”.  Nope.  I had been planning to ask my primary about the dropping RBC when I finally schedule a “where are we going, where have we been” appointment.

So another day, another appointment, another jug of pee.  And possibly another “badge” since mastocytosis is properly under hematology.  I need to figure out what I’d put on the badge for that one.  Drop of blood?