An epiphany or two, 30 years in the making: 6mo post-op follow up with Dr. Braaaains...erm, Bolognese

I usually try to come up with some sort of poetic or creative intro, but I'm just going to dive right in. The water is deep and wide, so best get swimmin'.

I had my six month post-op follow up with Dr. Bolognese yesterday morning via Skype. This was more or less about comparing cervical MRIs and checking in on symptoms; clearly he is not examining me (that's what my PCP did at my follow up in person). The appointment was elucidating, to say the least. No, that's too much the "least," it was a life-elucidating epiphany for 30 years of bafflement. I know I can be prone to hyperbole, but I assure this is not the case. But patience, kiddos; I'll get to that in moment. Why?  Because BRAINS.

After going over my current symptoms (still no headache, still no tremors, still greatly improved energy and motivation), Dr. B went over my before and after images, which is always fun. Checkitout checkitout!

Before: note the cerebellar tonsils dipping down below the foramen magnum, pressing into the brainstem and cutting off the flow of cerebral spinal fluid.  OR...note the triangular-shaped tip of the dark grey thingy pushing in to the right of the top of the long dark-grey cord thingy, and how the white stuff seen on either side of the cord thingy can't really get around that triangular-shaped thingy.

New and improved labeled edition! The foramen magnum is the opening of the skull, labeled with the orange dotted line. It's easy to miss; I had doctors misidentify it in front of me more than twice. Note how my cerebellar tonsils dipped below it (when they should stop a centimeter above it), cut off the flow of CSF, and were pressing into the brain stem.

And now, the after pic. Note how the tonsils no longer dip below the foramen magnum, the brainstem is no longer compressed, and CSF flow is also greatly improved. Also note, if you can, how the posterior/back edge of the my skull doesn't reach as far as before. It's that light grey line to the right of the back of the brain, resting at about a 45 degree angle. That's the part of my skull that was removed. (Ground away, really.)

The brainstem needs room to PARTY!

Dr. B surprised me in his word choice when describing my surgery--he said this decompression with cerebellar tonsillectomy was "the most aggressive" surgical treatment for Chiari. Apparently going in and removing the herniated tonsils, rather than removing a big chunk of skull (craniotomy) and pasting a section of cow heart (duraplasty, and seriously, that's what it is) is less aggressive. I suppose that makes sense, as Dr. B's approach took an extremely delicate (and experienced) hand--going in through a smaller incision and gingerly cauterizing away the offending cerebellar tonsils put him a centimeter away from killing me at any time, and even closer to causing damage that could've led to a catastrophic brain stem stroke. So I guess, yeah, more aggressive.

But, the more aggressive approach is, in his experience, the most successful. I'm seeing why.

Overall, he was very pleased with my outcome and progress (I am, too). My measurements--Grabb-Oakes of 6.88mm, CXA of 145 degrees for you technical-curious folk--are all in the happy range and show no signs of cranio-cervical instability (where the skull wobbles on the top vertebrae rather than being rigid on it). CCI scares the crap out of me because treatment is a cranio-cervical fusion, and I'm freaked at the thought of metal being screwed into my bones. I will need annual cervical MRIs for the next several years, though, to monitor and make sure things haven't become unsettled. Incidentally, my brain surgery may have been the most aggressive form, but it's also the least jarring to the area. It's like my upper spine is a Jenga tower--you risk disaster moving any piece, so the less you do, the better.

When the time came for questions, I asked about the words "probable hereditary disorder of the connective tissue" that he wrote in my records back in November 2014.  This is when things, my life, my understanding of my life up to this point, changed.

I read in recent months about the connective tissue disorder Ehlers-Danlos Syndrome, a genetic condition affecting the production of collagen. It is very frequently, but not exclusively, linked to Chiari malformation, so when diagnosed with one, it is worth looking into the other. I had heard of it before my surgery, but at the time the hellacious symptoms from the Chiari were dominating my life and the possibility of EDS wasn't settling into my compressed skull. Just in the last few weeks, though, I was reading about it and having startling realizations. Yes, that's me. Yes, that's me too. Wait, and that's me...and that...and...

I asked Dr. B if he had a doctor he recommended about pursuing a possible diagnosis, and he smiled and said, "I already diagnosed you."

I know, minions are a bit overly everywhere right now. But I like 'em and this is my blog, so there.

Yup. Now, Dr. B hasn't officially written down that I have EDS as which specific connective tissue disorder (and which flavor of EDS I have--there are 6 major ones) will require someone with that breed of specialty to identify, but I am assuredly, confidently recognized as having a CTD that is more than most likely EDS. I asked about finding the right doctor who can help me with this issue with tissue, and he provided some names. The problem (oy) is I need to find a doctor who not only understands EDS, but understands how Chiari and EDS intermingle and interact in ways atypical of a pure-EDS patient. Apparently, the two create a "bastardized" version of EDS (his words) in which the patient does not look purely as one type, but often has multiple symptoms overlapping the types. I could go to a doc familiar with EDS, but if they do not recognize the bizarre hybrid Chiari and EDS create, they may dismiss me. Dr. B said confidently and reassuringly, "If they say you don't have it, it doesn't mean you don't have it. It means they don't know enough to recognize it." (Oy.) Yes...sounds very, very familiar.

He gave me some names for specialists he knows and respects, though he said they had long waiting lists. One is in Chicago and the other in Maryland, but of course, we'll start with a local search. I do have some leads. He suggested I see a geneticist (most of the EDS types are identifiable genetically, though the type I have most symptoms of, type 3/hypermobility, is the only one that has not had its gene identified) and possibly a rheumatologist. I adore my rheumy and have a follow up with her next month, so that makes great sense.

Then he casually added something that floored me. I listened in shocked tears as he said, "Oftentimes patients with EDS and Chiari have a positive rheumatoid factor. It's not high positive, but just enough that they think it's rheumatoid arthritis, but it's actually an indicator of this."

My jaw dropped. I hadn't mentioned my positive RF. He didn't know. And at the time, I didn't know.

Twenty years ago, 22-year-old me suddenly realized my bones ached and body felt strangely heavy-tired. My hands in particular, I noticed, would pulsate and throb. Realizing a young woman shouldn't hurt like this, I went to my then-family doctor--I'd like to add this man is in jail now for being all kinds of gross and inappropriate with several patients--who dismissively and with some annoyance sent me off for testing. My rheumatoid factor was high, around 25 or so when normal is 0-13. It raised suspicion that I had early onset rheumatoid arthritis, so I was sent to a rheumatologist who was without question the weirdest doctor I have ever encountered. The shy, short man was almost afraid to look at me, and certainly afraid to touch me. He was hunched over Igor-style as he walked in, looking up a millisecond to say hello and shake my hand--well, more raise a few of my fingers up and down with his limp, moist paw. He pseudo-examined (in his avoid-touching-way) my hands--which were not red, swollen, hot, tender, or in any other way indicative of RA--and at the end, mousily said that since my tests for lupus were negative, I must have RA. Here, have some drugs, bye...and he scurried out the door. The whole thing felt...peculiar, to say the least.

I tried the meds for a while and then disregarded them in embarrassment. The internet was young in those days, but I had read enough about RA on it to know that wasn't me. Maybe my numbers were just high. Maybe "it's just me," as so many doctors said. I remember nervously chuckling to my-then doctor later that it must just be I'm on my feet too much and I wear the wrong shoes. At this point, I had drawn attention to myself in prayer groups and my friends and family, and I was embarrassed that the diagnosis didn't seem to stick and my response to treatment was nonexistent. Ashamed, I buried this memory and "diagnosis" and didn't speak of it to anyone for nearly two decades. 

Then two years ago when my symptoms progressed to where I couldn't ignore them anymore, I was once again sent to a rheumatologist who once again discovered I had a positive RF, but this one recognized I didn't present like RA. She was confounded when a definitive test for RA came back soundly negative--it didn't make sense. But also what didn't make sense was that I had a high RF that was high enough to meet the criteria of a RA diagnosis, but not as high as what is often seen in RA patients (particularly my age when the disease has progressed). Still puzzled, my rheumatologist has my RF on her annual watchlist--why is it positive? It's been bugging her.  Now, I have something to share with her. Hmm...I think I'll ask for another copy of my records from Dr. B to give to her.

I have 19 symptoms of EDS at my last count (and Dr. B's too--it was part of my intake that I completely forgot about). Nineteen. Each one, taken individually, seems like a "Huh, that's weird," but together, they form a constellation. 

Thirty years of symptoms and history flooded me. 

When I was 13, I could pull my left hip out of the socket. I was extremely flexible and while standing could fold myself in half, nose to straightened knees. But if I held it for more than a few seconds, my left hip would disappear, for lack of a better description. I would hear this odd muted grumbling sound, like rocks rolling under water, and my hip would slip and I'd start to fall. The hip would rumble back into the socket as I straightened. It was odd and I reported it to my doctor, who brushed it aside. "No, that can't be what's happening." Age and early-onset osteoarthritis--common in EDS--mean I am not longer this flexible, but I remember it clearly.

When I was 12, my PE teacher noticed I had a mild scoliosis during a routine health exam. My doctor confirmed this, but since it's mild, no correction was needed. Doctors still note it from time to time.

When I was in my mid-thirties, I was diagnosed with degenerative disc disease in my spine and spinal stenosis that led to two back surgeries and a whole lot of "you're too young for this." I was told I have the lumbar spine of a person twice my age.

Then there are my extraordinarily flat feet, about which my podiatrist gasped, "I see flat feet every day in my practice, every day...but you, you're practically walking on your ankles." He was genuinely horrified and fascinated--my kind of guy, heh.

And my dislocating jaw that I have to sometimes manually put back in place when eating an apple (unlike my hip, that really hurts). My left ankle sometimes likes to slide in and out too randomly as I walk; doesn't hurt at the time, but hours later...OW. 

And my...ugh, sharing in the name of education...pelvic prolapse. This occurred randomly four months after my oldest was born. Again, my doctors were confounded--I had not recently given birth, and even so, my son was born after a short labor and he was under 8lbs. This is something they see in old women.  (Again with the "You're too young for this.") 

And then there's the general "crunchiness" of my joints. I've been able to snap, crackle, and pop almost every joint in my body since I was very young.

The crunching and popping and snapping are great ways to have fun freaking out your friends, though (and most recently, my PCP). EDS bonus! Now, who's hungry?

I was told by doctors on numerous occasions, "Eh, it's just how you are. You have loose joints. :::shrug::: " 

And then there's the Chiari malformation, itself often a sign of EDS. More telling is the pannus formation, a sort of callous on the top of my odontoid/C2 vertebrae, formed when the supposed-to-be-rigid skull wobbles more than it should. Healthy, normal people don't get these, and it's another sign that I need to be monitored for possible cranio-cervical instability for years to come. If the Jenga tower starts to fall, my poor brainstem could wind up being compressed in the front by the odontoid after having the compression from the rear Chiari taken care of.

I could go on with the other how-ever-many symptoms, but I 1) don't want to bore you (too late?), 2) don't remember them all, 3) don't want to try and prove anything, and 4) want to get to one specific group that for some is a diagnosis in and of itself.

Dysautonomia.

Dys, meaning abnormal, autonomia, referring to the autonomic nervous system--the part that controls the likes of breathing, heart rate, blood pressure. I'd heard about it on an EDS support group and it sounded startlingly familiar. Yes, Dr. B said, dysautonomia applies to me as well. Patients with EDS and Chiari often have this as well, though it is more the name of a group of symptoms than a diagnosis in and of itself. 

Because of the faulty autonomic nervous system (I assume due to the no-touchy brain stem being compressed, but that's this layperson's theory), patients experience things like heat intolerance, low baseline temperature, low blood pressure ("orthostatic imbalance"), heart palpitations, dizziness and/or vertigo, fast heartrate, light-headedness, fainting, balance issues, frequent "head rushes," and the like.

Oh.

My.

CRAP.

Ohmicrap.  

Once again, thirty years of memories flooded me, and the paralyzing shame and gut-sinking embarrassment I felt came with them.

Like...a friend recently posted a photo of my high school choir when we were on a field trip to a festival in Phoenix. Why wasn't I in the picture? I wondered. Oh. Ohhhhh. A memory I'd buried because of the shame I felt with it came rushing forward. I'd been sent to the ER the night before due to heart palpitations and vertigo. 16yro-me didn't understand what was happening and it frightened me, which of course made it worse, but it was very real. The docs didn't see anything major and chalked it up to "viral labrynthitis" (viral inner ear infection, or more accurately, "We have no idea what is wrong"). I missed the performance the next day as I rested in the hotel room and thus wasn't in the photo. I had multiple heart "hiccups" and issues of vertigo much of the trip, but I was so horribly embarrassed. I was That Girl. The one that was rushed to the ER on a choir trip when *psshh* nothing was really wrong. I didn't hear what people were saying, but I knew what their words were.

I spent the following year getting my heart checked out and was diagnosed with mitrol valve prolapse  (which was just undiagnosed last year) and given a nasty beta blocker called Corgard to treat the palpitations. I hated the effect the drug had on me and quit it after a few months. I learned to live with my "heart hiccups" and how to cope with the periods of palipitations and rapid heartrate on my own for the next few decades.

But still, I felt like That Girl.

Heat intolerance?

When I was in junior high, I joined the track team but never made it to my first meet. I couldn't handle our required two-mile warmup in the Indiana afternoon heat and humidity. Early on in the season, I ultimately collapsed on a stranger's front lawn walking back home after the late bus dropped me off at the stop. I still remember the kind worried woman coming out to see me--"Are you okay?" Embarrassed (I was That Girl again), I woozily got up. "Yeah, I'm fine," and hobbled home, unable to get up for the rest of the afternoon.  I never went back to practice. 

Scores of times, this sort of story repeated. It's not every time it's hot (typical of the condition, symptoms wax and wane), but it's often enough. Just last week, I had to excuse myself at a pool party when I was sitting in the shade in 90 degree heat...I just could not cool off, no matter how much water I drank. I had to go lie down for a bit inside, then was able to stay outside with the gals and chat with an icepack coming to my aid.

Still...I'm a wimp, I said to myself, and it and I'm That Girl were written on my soul. I would spend years trying to prove myself wrong--that I was tough and strong--but that's what was carved into my being. That was my fear. I'm weak. I'm just a whiner. Geez, can you say psychosomatic illness? I knew it was being said. Some said it to me, some said it near me, some said it away from me, but mostly I said it to myself. It made me fight harder to try and make it not true.

...Low baseline temperature, yes, light headedness, yes, nearly fainting several times, yes, heart palpitations, yes, rapid heartrate...oh! Yes!

For years, I'd try to exercise, and it seemed like my heart overreacted. Go up a flight of stairs? Heart rate would zoom up to 140. Try to take aerobics in college? Heartrate would jump to over 160. Surely I must be doing this wrong. "No, no, that can't be it" doctors (and the aerobics instructor) would tell me. But it was, and it is.

Lately, both the heartrate and palpitations have gotten obnoxious enough ("Hel-LO! I'm trying to rest and sleep here! WHY YOU BEAT SO HARD AND FAST?") that I've been started on another beta blocker, Atenolol, and it's awesome. Totally works (at least so far) without making me feel funky. For what it's worth, my heartrate never reaches tachycardia levels when at rest, thankfully; it just hovers around 105-110, which is annoying when one is trying to rest, but not dangerous. Just uncomfortable. Boo.

...blood pressure issues...oh. OH!

There are many smaller instances of random near-fainting, but one story jumped out at me in that moment. In 1998, I donated blood for the first and only time for my father's impending surgery. Now, anyone who knows me knows I dig what makes most people squeamish. Wounds? Neat! Autopsies and necropsies? Fascinating. Drawing my blood? Sure! Use this vein; it's my happy vein. Donating blood? Can't be much different, right? NEAT! No, don't worry, I'm not afraid of needles. 

And then, when the donation was almost done, a nurse noticed my palor and asked cautiously, "Are you doing okay?" I looked up from my magazine and said, "Sure, I'm fiii..." And then right after the motion of lifting up my head, everything went sparkly and white, and it felt like buckets of ice water were being poured over my head. The next several hours were a blur of "Open your eyes, Laura! Open your eyes!" and "I really recommend you don't donate blood again. I really recommend you don't donate blood again." Apparently, my blood pressure crashed completely off the chart and they couldn't get a reading on me for the next two hours. Somewhere in there was some vomiting, and somewhere in there (ay, the horror) I felt a pressing, urgent need to go to the bathroom--NOW. I had awakened enough to ask to go, but the nurses were all nuh-UH until my blood pressure regulated enough that they could get a reading. Horrified (there was a woman from my parents' church there at the same time to donate for Dad, and I still can see the puzzled and worried look on her face staring at me throughout this ordeal--oh God, I'm That Girl again!), I begged them to take me so I wouldn't mess myself all over the cot while I fought my panicked, gurgling bowels to hold things together in between bouts of vomiting. Eventually, thankfully, I was allowed to go to the bathroom--but with a nurse demanding to be next to me in the restroom while my liquefied bowel content made rapid exit. 

This was beyond shame. This was humiliation. 

Dr. B said that this all made sense; my vasovagal response (I still remember telling this story to a nurse friend who said, "Omigosh! You totally vagaled!") is due to my body's inability to properly regulate blood pressure.  It couldn't keep up with the changes the blood donation required. 

He was almost casual in his explanation in a "Well, yes, of course, that makes sense," but after ending the call, I shook with sobs as decades of memories like the ones shared here and the shame that surrounded them flooded me.

Decades of doubt, embarrassment, shame, humiliation over my symptoms. Decades of knowing what others were saying about me, and then saying worse to my own. Decades of trying to ignore what my body was telling me. Decades trying to not be That Girl.

When I nearly fainted in my classroom two years ago and couldn't shake the feeling the rest of the day, I refused to let my students run for help. I knew what would happen. The office would call an ambulance. I'd be That Girl. At the urging of my own PCP, I later begrudgingly went to the hospital. But when the ER docs ruled out a stroke and heart attack and dismissed me as just hyperventilating myself, I was That Girl. I broke into violent sobs when I came home, shaken by this incident and the years of incidents before it.

Surely, since no doctors could find anything for all those years, it just meant I was crazy, right? Hyperemotional? Psychosomatic? Weak? Whining? Attention-seeking?  

Bury it. Hide it. Deny it. Push forward and ignore what my body is telling me, keep pushing, KEEP PUSHING, KEEP PUSHING! ...Until my body finally said enough was enough and pulled the rug out from under my life, demanding I see and deal with what is real and not in my head and not about a weakness in my character.

Chiari Malformation, type 1. Ehlers-Danlos Syndrome, likely type 3. Dysautonomia. This is what is real and true.

At the end of the appointment, Dr. B asked me to do something: tell my story. Go on social media (and perhaps blog, heh) and share what I've been through, what my symptoms are, the battle I've endured medically, physically, emotionally, psychologically...share the doubt, the shame, the judgment, the "being written off as a whackadoo." He emphasized this isn't about sending people to this doctor or that doctor; he wasn't asking for referrals. He was urging me to help others lost in the fog to these conditions.

In other words, educate. That I can do.

And that you can do too.

Your favorite Whackadoo