Path to Diagnosis: Part IV (Breathing)

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Continued from Diagnosis: Part III (Traction)

I woke up in recovery with an intracranial pressure bolt screwed into my head. It was late afternoon. I remember the warm light streaming in through the green partition curtains. They struck me as beautiful. I don’t know if they actually were. It could have been the anesthesia wearing off or the pain meds kicking in. Or maybe my entire memory of that moment was colored by the peace I felt. The peace that I finally knew. I knew from the traction testwhat had been causing many (perhaps all) of my symptoms for the last seven years.

Or maybe when you have a bolt sticking out of the top of your head, and the highlight of your day is when the chocolate pudding comes around, your sense of aesthetics…changes.

Omar was visibly unnerved by my appearance and made many jokes about trepanation and releasing bad spirits. They took me from recovery to the ICU, where I fell asleep. Every once in awhile, the machine would alarm but I couldn’t see the readings and figured that tomorrow, they would tell me what it all meant.

In recovery after my intracranial pressure bolt was inserted in my skull. It continuously measured the pressure in my skull for 24 hours.

In the morning, my neurosurgeon came to the ICU. I am used to a certain style of medicine: run a bunch of labs, everything comes back normal (or doesn’t), make some guesses and give a pill. I am used to the bureaucratic execution of the standard of care, which can often prevent doctors from observing the empirical world as it exists, right in front of their eyes. This kind of care can sometimes lead to some pretty silly situations, such as the PCP who kept suggesting that a symptom I had was being caused something that had occurred after the symptom started. Or all of the many times I have presented with severe neurological symptoms and simply had my doctor, when he failed to explain them, discount that they were happening at all. Doctors send you out for tests, they read some piece of paper (the lab test, the radiology report) that comes back. You (and they) hope the paper tells them something actionable. Otherwise, they throw you to the curb and you are left to complete the whole dispiriting, impoverishing cycle over and over and over again. Dr. House is a myth. They almost never say, “I don’t know, I can’t help you.” Rather you most often hear, even (especially?) if you’re a young woman who has been living in a bed for years, “there’s nothing wrong.”

Now, in some ways my neurosurgeon’s project was not radically different from any other specialist. His aim was to figure out whether my case fit within the purview of his sub-sub-sub specialty: in other words, to decide whether or not he could help me. He had, through a depth of experience, developed a skill of pattern recognition of the kind of structural, neurological complications patients like me can develop. This kind of skill, when the right expertise meets the right case, can feel like magic; like this is how it’s supposed to work. It’s an experience I hope every patient gets to have.

Being diagnosed with craniocervical instability was entirely different from anything I’d experienced before in medicine. Yes, my surgeon took objective measurements, but he also observed. He looked at the patient in front of him and sometimes perturbed the system to see what would happen. He did not just take measurements, he took them over and over (and sometimes ovveerrrrrr) again. It was as though he was flipping a coin to see how many heads he would get. In other words, he ran experiments.

This is why, as someone who almost got a master’s degree in statistics before my body fell apart, I came to trust my surgeon and my diagnosis and the possible good that might come with surgery. It was because my surgeon was not only a doctor, his approach was like that of a scientist. He worked very hard not to lie to himself.

My neurosurgeon had me take off my cervical collar. He lowered my bed so that I was lying supine, putting pressure on the back of my head, the precise position guaranteed to cause my apnea. When I had apnea while in this position, I was also immobilized: I could not breathe, I could not blink, I could not move anything but — I think occasionally, not always — my eyeballs. The closest thing to it is a kind of temporary locked-in syndrome. With each breathing cycle, I would have periods of total immobilization and apnea for tens of seconds, then gasp for breath, then it will start all over again. When in this state, no matter how hard I tried, I could not get my diaphragm or chest wall muscles to move. The first few times it happened, Omar and I went through dozens of cycles over the span of as long as an hour, until finally we realized it was related to how I lay on my head: on my back, I could not breathe. On my side, I (mostly) could.

I hated going through it, that cycle of stop breathing, gasp-gasp-gasp, stop breathing, gasp-gasp-gasp. It’s given me insight into what it might feel like to be dying, or drowning, insight frankly I wish I did not have.

At least my neurosurgeon and I were now on the same page that this was actually happening, that it might be related to the craniocervical instability and the cranial settling he had just diagnosed, and he was here to find out why. “Do your worst,” I thought, and maybe we’ll finally get to the bottom of this.

He had me lay there for what seemed like an interminable amount of time, making me go through what I had been experiencing in private for months. This time, though, I was hooked up to a machine. This is how the pattern went: not breathing, alarm! alarm!, gasp-gasp-gasp, not breathing, alarm! alarm!, gasp-gasp-gasp, not breathing, alarm! alarm!, gasp-gasp-gasp. I remember thinking, “how many times is he going to make me go through this? I tried to study his face, as much as one can when one is barely breathing and cannot really move anything but one’s eyes, if that. “I keep hearing the alarm,” I thought. “You keep staring at the machine,” I thought. “Do you see something? Does it make sense? Do you believe me? Did you figure it out? Will you help me? Will you throw me to the curb?”

Here is what he later wrote on my chart:

Being diagnosed with craniocervical instability was entirely different from anything I’d experienced before in medicine. Yes, my surgeon took objective measurements, but he also observed. He looked at the patient in front of him and sometimes perturbed the system to see what would happen. He did not just take measurements, he took them over and over (and sometimes ovveerrrrrr) again. It was as though he was flipping a coin to see how many heads he would get. In other words, he ran experiments.

This is why, as someone who almost got a master’s degree in statistics before my body fell apart, I came to trust my surgeon and my diagnosis and the possible good that might come with surgery. It was because my surgeon was not only a doctor, his approach was like that of a scientist. He worked very hard not to lie to himself.

My neurosurgeon had me take off my cervical collar. He lowered my bed so that I was lying supine, putting pressure on the back of my head, the precise position guaranteed to cause my apnea. When I had apnea while in this position, I was also immobilized: I could not breathe, I could not blink, I could not move anything but — I think occasionally, not always — my eyeballs. The closest thing to it is a kind of temporary locked-in syndrome. With each breathing cycle, I would have periods of total immobilization and apnea for tens of seconds, then gasp for breath, then it will start all over again. When in this state, no matter how hard I tried, I could not get my diaphragm or chest wall muscles to move. The first few times it happened, Omar and I went through dozens of cycles over the span of as long as an hour, until finally we realized it was related to how I lay on my head: on my back, I could not breathe. On my side, I (mostly) could.

I hated going through it, that cycle of stop breathing, gasp-gasp-gasp, stop breathing, gasp-gasp-gasp. It’s given me insight into what it might feel like to be dying, or drowning, insight frankly I wish I did not have.

At least my neurosurgeon and I were now on the same page that this was actually happening, that it might be related to the craniocervical instability and the cranial settling he had just diagnosed, and he was here to find out why. “Do your worst,” I thought, and maybe we’ll finally get to the bottom of this.

He had me lay there for what seemed like an interminable amount of time, making me go through what I had been experiencing in private for months. This time, though, I was hooked up to a machine. This is how the pattern went: not breathing, alarm! alarm!, gasp-gasp-gasp, not breathing, alarm! alarm!, gasp-gasp-gasp, not breathing, alarm! alarm!, gasp-gasp-gasp. I remember thinking, “how many times is he going to make me go through this? I tried to study his face, as much as one can when one is barely breathing and cannot really move anything but one’s eyes, if that. “I keep hearing the alarm,” I thought. “You keep staring at the machine,” I thought. “Do you see something? Does it make sense? Do you believe me? Did you figure it out? Will you help me? Will you throw me to the curb?”

Here is what he later wrote on my chart:

The respiratory depression is probably the cause of the chronic fatigue. Now, I have explained to my neurosurgeon more times than I can count that I do not have “chronic fatigue.” I have post-exertional malaise (PEM), the hallmark symptom of my illness. PEM is the worsening of all symptoms after physical or cognitive exertion. I was not “tired,” as he suggested, because the apnea was somehow messing with my sleep. (I sleep just fine.) Rather, I was “crashing,” as many patients call it.

I started to wonder, though, whether my apnea and PEM might in any way be related. Granted, most ME patients don’t have apnea, but my apnea didn’t start until more than seven years after my viral onset. It only started after my thyroid surgery last June, during which my neck was hyperextended. After that surgery, something had happened to my brainstem such that it did not perceive the need to breathe until my CO2 levels would skyrocket well beyond normal. It was like I had a broken thermostat that wouldn’t kick in until the temperature had reached 80 degrees. Everything downstream worked, it’s just that the normal processes weren’t being initiated at the right time.

I had a similar problem with actual temperature. I wouldn’t sweat in the sauna. I was cold when I shouldn’t be. And after my thyroid surgery, I had a period of time when I would stick my hand under the faucet and couldn’t tell what temperature the water was. Perhaps POTS was also a problem of this kind. For sure, the extreme sleep cycle shifts that many patients experience could be something like this, too. If so many of our symptoms were forms of dysautonomia, could PEM (as researchers at the Workwell Foundation recently asserted) be one as well?

Seeing me with my ICP bolt and my red, glowing pulse ox, Omar said “#ourcyborgfuture.”

This concludes my diagnostic journey. My surgeon’s ultimate diagnoses were: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, Mast Cell Activation Disorder (MCAD), Craniocervical Instability, Tethered Cord Syndrome, Adrenal Insufficiency, Dysautonomia, Postural Orthostatic Tachycardia Syndrome, and Intracranial Hypertension.

I will share the story of my surgery and recovery, but next, I want to try to explain why I think all of this may have happened to me and how my viral onset (several years after a severe mold exposure) may have triggered my craniocervical instability. We’ll be jumping from what I know about my case to that about which I can only ever make conjectures, but I think from that speculation might come some good questions worth asking.

In the meantime, read all the posts in my CCI + tethered cord series

Read this disclaimer. Crucially, surgery carries risks and it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.

Path to diagnosis: Part III (Traction)

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Originally published on Medium June 5, 2019

Continued from Path to Diagnosis: Part II (Cervical collar)

I was taken to pre-op where I saw my surgeon and anesthesiologist. The plan was to perform two invasive tests. The first, an invasive cervical traction test, would involve screwing two bolts attached to a metal handle into either side of my skull while briefly under anesthesia. I would then be woken up and a physician’s assistant would attach the handle to a pulley system that would lift my head with progressive pounds of force while the surgeon performed a fluoroscopy, took measurements, and monitored my symptoms. Second would be a 24 hour intracranial pressure (ICP) bolt test. I would again be put under anesthesia while a small hole was drilled into my skull. A thin wire probe would be inserted through that hole to directly and dynamically measure the pressure in my brain. I would then be taken to the ICU and monitored for 24 hours.

Now you might already be thinking, “Wow Jen, that sounds like a lot!” but this is one place in my life where my nerd comes in handy. Sure, I was a bit nervous, mainly about whether there would be any pain, but I also found the entire process weird, gross, and fascinating.

When I came to in the operating room, I was sitting up. My surgeon asked me, “How do you feel?”

At first I didn’t feel anything. I was just confused as I waited for the anesthesia to wear off. “Terrible,” I finally said. Not only was I not wearing the cervical collar that had been keeping many of my neurological symptoms at bay for the past four months, I was carrying the extra weight of the metal apparatus they had attached to my head.

“Now, turn your head to the left.” He asked me to do this because he knew from taking my history that this is what exacerbated my symptoms. I turned my head and slumped over. I could not move.

In these moments of non-responsiveness, which began after my thyroidectomy, it can look to an outside observer (I have been told) like I have passed out or, if my eyes are open, like I am dead. I am still “there” inasmuch as I can hear what is happening around me, but I have a hard time having any thoughts or interpretation of events. My cognition is still there, but at a rudimentary level. I cannot move or speak.

“How do you feel?” he asked again. He asked several times. I could not respond, so the physician’s assistant picked me up by my new pail handle, brought my head back to neutral, and lifted it slightly. Suddenly, I could talk, breathe, react again.

The surgeon asked me what I had experienced when I turned my head to the left. I told him that I couldn’t move or speak. I also said I stopped breathing.

“No, you didn’t,” the surgeon said.

“Yes, I did,” I said.

“No, you didn’t,” he repeated.

“Then why did you ask me?” I thought.

Then, they added twenty pounds to the pulley system, giving my head some lift. “How do you feel?” my surgeon asked. I thought I felt a little better, but it was hard to tell. At least I wasn’t struggling with the weight of the pail handle. Again, he asked me to turn my head to the left.

Again, I slumped over. The physicians assistant lifted my head and brought it back to neutral. “What happened?” my surgeon asked. I told him I couldn’t move or speak. I told him I had stopped breathing.

He said, “No, you didn’t. You’re being constantly monitored. If you weren’t breathing, we would know. You are breathing” or something to this effect.

Now, I was getting angry. I don’t lie. I wasn’t here because of my ME or POTS symptoms. I was here because I was constantly ceasing to breathe. I try to be as precise as possible about what I am experiencing under the rather naive assumption that someone will care or that the detail I provide will be useful. As though clues matter. They rarely do. My experience of medicine is doctors constantly throwing away information according to their own needs and biases.I was starting to think this neurosurgeon was just another case of that.

Then we went to thirty pounds of traction. At thirty pounds, something extraordinary happened. I did not anticipate it. It took me by complete and total surprise.

I felt…normal.

I was 28 when I got ME, after a severe viral infection. Since then, I have never known a moment of feeling well. In an instant, it was like I was 25 again, at the peak of my health. That 24–7 feeling of being sick, of constant brain inflammation, was gone. The unrelenting pressure behind my eyes was gone, too. For years, I felt like I was wearing an invisible leash, one that would violently slap me back into bed if I thought too much or did to much.That, too, was gone. Both cognitively and physically, I felt well for the first time in almost eight years.

“How do you feel?” my surgeon asked.

I could not say how I really felt. That I felt like getting up off that table and going running down the halls and up the nearest mountain. That I suddenly had boundless energy. Or that I felt like a superhero. How do you describe what it is to suddenly feel normal when you have completely forgotten what normal feels like?

“I feel great!” I said.

He asked me to turn my head and I did, right and left, just as fast as I liked. I was able to do it without slumping over, without triggering any neurological symptoms at all.

At 30 pounds of traction, I felt all my symptoms lift. I felt normal for the first time in eight years. In this moment, I had no idea if I had met the criteria for surgery, or if surgery would result in my recovery, but I knew that I’d found the mechanism behind all of my symptoms. That is the smile on my face.

I knew in this moment that this was it. I had found what had caused seven years of that hell. I also knew that if the surgery was successful, there was a very good chance I would feel like I felt at thirty pounds of traction, 24/7, every day of my life. In other words, that I would be cured.

Some people have wondered, “how do you know if it was the fusion that put your ME in remission and not some other intervention associated with the fusion?” I will grapple with alternative hypotheses in future posts, but putting aside the fact that I have been under general anesthesia multiple times both prior to and after this test, and have taken all the other drugs associated with surgery, this is how I know. It was because the effects were specific, instantaneous, dramatic and total. It was not subtle.

However, I could feel my surgeon’s deep skepticism. I remember thinking, maybe he won’t operate on me. Maybe no one will. I didn’t care. At least I knew. I knew what was causing my symptoms. The peace and joy that came with that knowledge is hard to describe. I thought I would live and die and never find out.

The physician’s assistant released the traction. All of my symptoms came flooding back. Again, I had brain inflammation. Again, I had pressure behind my eyes. Again, I could feel that invisible leash wrap itself around my chest.

They started to reinitiate anesthesia so they could remove the pail handle and insert the intracranial pressure bolt. As they lowered me to a supine position, my head slid into a “bad” position.

“She’s not breathing,” the physician’s assistant said.

As scary as it was to be not breathing and to be drifting off, I knew that I was being monitored, and that they knew exactly how to help me breathe again (i.e., lift her head) which no other team, in no other ER or OR would. So I wasn’t afraid.

I smiled in my own mind, knowing everyone in that room had finally witnessed what I had been trying to tell them all along.

You might think my surgeon was kind of an ass for not just believing me when I told him I wasn’t breathing — yet another doctor who doesn’t believe his patients. After all, that is the mantra for so many of us: “Believe patients!”

He had reason to be skeptical: I did not present quite like his other patients. The dysautonomias (POTS, poor temperature control, etc.) he was quite familiar with along with Mast Cell Activation Syndrome (MCAS). The central apnea, a type of breathing problem that happens when the brain doesn’t send proper signals to your diaphragm muscles, causing abnormal gaps in respiration, was rare. Also puzzling was that I did not have a diagnosis of Ehler-Danlos Syndrome or any signs of peripheral hypermobility. And “fatigue,” as he called it (he was not familiar at the time with the concept of post-exertional malaise) can have so many different causes.

He explained his stance to me later: “I don’t want to drink my own Kool-Aid.” By this I think he meant that he doesn’t want to start seeing craniocervical instability (CCI) everywhere. I went to him, desperate and at what felt like the end of the line for me in terms of seeking answers. He is used to seeing desperation. So many patients with Ehlers-Danlos Syndrome (EDS), like patients with Myalgic Encephalomyelitis (ME), go for years, even decades, undiagnosed. Many have been accused of malingering, have been diagnosed with conversion disorder, or have otherwise been dismissed by medical professionals. There are emotional incentives to rush to judgment. The doctor wants to help. The patient desperately needs that help. In this context, it’s even more important to make sure to proceed deliberately and dispassionately in order to increase the odds that the diagnosis is right. So many problems can cause similar symptoms but ultimately require very different solutions.

He described his entire process as a way of trying to hedge against his own cognitive biases, biases all of us have. For him, the patient’s subjective experiences and symptoms do matter, but if he can’t also objectively measure or observe it, then he cannot take it as fact. I have met so many doctors over the years who have been supremely confident of, well, everything. Here was one who was essentially saying, “I have to work very hard not to lie to myself.” This is the first of the very many reasons why my surgeon earned my trust and respect.

When I woke up in the recovery room I remember telling Omar. “This is it!”

The surgeon later came into the room to explain the results of the test. In addition to the positive subjective symptomatic improvements I had experienced while under traction, he was able to objectively measure the relationship between my skull and upper cervical vertebrae — the craniocervical junction — via fluoroscopy.

The craniocervical junction is like a twenty lane highway. It’s where your brainstem becomes your spinal cord. A bundle of arteries, veins and nerves enter and exit. Just above it, the vagus nerve joins the brainstem. Much of signaling between your brain and your body requires this junction — the most mobile in the entire body — to be structurally sound within some fairly narrow parameters. It is kept both highly stable and highly mobile by the strength of your neck muscles as well as well as a scaffold of some of the densest, strongest connective tissue in the body.

The neurons of the upper cervical spine and brainstem are extremely sensitive to slight changes in pressure or stretch. Small abnormalities in the angle of the brainstem or even minor compression, as can occur with CCI, can cause major dysregulations of the autonomic nervous system and with it, the entire body. Here, a millimeter might as well be a mile.

On my fluoroscopy, the Basion Dens Interval (BDI), a measure of the vertical distance between the skull and the spine, was very clearly abnormal. Under traction, a normal person will have very little to no change in this measurement. If traction is able to lift the skull, this shows the skull was too “low” on the spine to begin with and that it is hypermobile. Anyone with a change of 2mm or greater is considered a candidate for surgery. My change in measurement was 4.8mm. This indicated that my skull was moving more than it should, as a result of ligament laxity. This craniocervical instabilitywas causing cranial settling — my skull was sinking on my spine, crushing my brain stem and likely also causing problems with cerebrospinal fluid and blood flow (which could cause or contribute to intracranial hypertension).

The radical change in my symptoms I experienced while under traction amazed me, but this is something that my surgeon sees all the time in people who have CCI. Even more surprising, from a medical standpoint, was what happened during my 24 hour intracranial bolt test. This test helped explain the dynamics behind my central apnea and forced me to rethink everything I thought I knew about post-exertional malaise (PEM).

Concluded in Path to Diagnosis: Part IV (Breathing)

Read all the posts in my CCI + tethered cord series

Read this disclaimer. Crucially, surgery carries risks and it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.

Path to Diagnosis: Part II (Cervical collar)

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Originally published on Medium May 30, 2019

Continued from Path to Diagnosis: Part I (An empty sella)

The vascular neurosurgeon who diagnosed me with intracranial hypertension told me I might have craniocervical instability (CCI) but this was not the first time I had heard of this diagnosis. The first time I had heard of CCI was on this now epic Phoenix Rising thread. On it, a patient named Jeff, who now writes about his experiences at mechanicalbasis.org, described getting diagnosed with CCI, a condition which can cause cranial settling and brainstem compression, and how having surgery cured him of his ME. This, he explained, was what had been causing all of his symptoms of both ME and POTS. “How many others are just like me, but undetected?” he asked.

I read his story with interest because, well, it was fascinating. It was absolutely conceivable to me that a compromised brain stem could cause the symptoms of ME or something very similar. After all, many of the symptoms in the Canadian Consensus Criteria (CCC) and International Consensus Criteria (ICC) can be symptoms of dysautonomia, and the brainstem is a major component of the autonomic nervous system.

So I took all this in as academically interesting. However, I did not think it had any personal relevance to me. I was a viral onset patient. (I later found out, so was Jeff.) Prior to my thyroidectomy, I had classic ICC-ME with no symptoms that obviously suggested a structural problem, much less one involving my neck. Besides, at the time I was making some improvements. At the beginning of my illness, I was almost entirely bedbound and would crash from relatively minor activity like talking on the phone or attempting to go for a wheelchair walk. These crashes would last for weeks or months. Thanks to a combination of drug treatments and the avoidance of mast cell triggers, I could now sit in a chair for a few hours a day, leave the house once a day in my wheelchair and later, travel around the world for the release of Unrest (although this involved spending a lot of time crashed in hotel rooms in foreign countries!) In short, I had moved from the severe to the moderate part of the spectrum. While I was still profoundly disabled, I was responding to drug treatment. I also had numerous laboratory findings consistent with the ME research literature. For these reasons, I thought that my illness must have a biochemical, systemic cause.

So, pursuing a craniocervical instability diagnosis wasn’t high on the priority list and frankly, the images of Jeff in a halo scared me (though he later explained that very few CCI patients end up in a halo, as he did, prior to surgery). The thought of never being able to turn my head again normally also scared me. Moreover, surely if I had something that could be clearly, objectively measured, like a problem in my cervical spine, it would have been diagnosed by now. Surely this was something my neurologist, who diagnosed me with conversion disorder, would have screened me for, given all of my neurological symptoms.

Then I had my thyroid surgery. My neck was hyperextended to intubate me while under anesthesia. I woke up with an excruciating pain in my jaw. I could not sit up without falling over. A month later, I had what felt to me like a severe viral infection with low-grade fever. All of the severe ME symptoms I had had when I first became bedridden would come raging back, erasing the modest gains I’d made from drug treatment. With them came two completely new symptoms: an inability to breath when putting any pressure on the back of my head, such as when laying flat and falling over, and becoming immobilized and unresponsive (but not losing consciousness) when I turned my head to the left.

On the advice of a friend with hypermobile Ehlers-Danlos Syndrome (hEDS), ME, and neurological symptoms, I began wearing a hard cervical collar. (Again, I do not have hEDS.) I had already been to the emergency room at UCLA without success and had a neurology appointment a full month in the future. The best they could offer me was, “Don’t lie on your head.” Right.

Since my thyroidectomy, I also had the problem that whenever I would accidentally hit my head against the railing behind my bed or otherwise put too much pressure on my head and neck, I would start leaking what I think was spinal fluid. Now, I cannot be sure that this is what was happening, but immediately after injuring myself, I would taste something slightly salty, slightly sweet, and thicker/gooeier than saliva dripping down my throat. I would lay flat, rest, and it would go away in a few days. The flow also seemed to increase when I was upright. If I got my neck in the wrong position or tapped my head, that same taste would come back. This happened multiple times.

Not only that, but I eventually started to stop breathing, even when sitting up with my head facing straight. We once went with me breathing 5 seconds/not breathing 15–45 seconds, on again, off again, over and over for a full hour before we could figure out how to position my head so I could breathe normally. My life was becoming untenable and no one thought any of this was an emergency.

So I ordered a Philadelphia collar from a local medical supply store in Los Angeles (and later, a Miami J collar on Amazon).

I cannot recommend that anyone order a cervical collar. There are some real downsides (Jeff explains this further in his FAQ), namely a deconditioning of the neck that can worsen any instability and cause you to become dependent on the collar. But I had reached a point where in my own estimation, I very clearly had no other choice.

The cervical collar did not really provide any traction to speak of, that is, a lifting of my head, but it did provide immobilization of my neck.

Wearing a cervical collar did nothing for my POTS or PEM, but it had a dramatic effect on some of my other symptoms. I slept in it, and so was no longer waking up in the morning with my entire right side numb with the sensation that my arm was dangling out the socket. I could spend the day sitting up again. I stopped getting spinal fluid leaks. I still couldn’t lay on the back of my head, but I stopped having central apnea, at least while sitting up. (Central apnea is a type of breathing problem that happens when the brain doesn’t send proper signals to your diaphragm muscles, causing abnormal gaps in respiration.)

On the recommendation of a friend, I consulted with a pediatric neurosurgeon at Stanford. He told me to wear the collar religiously for eight weeks and see how I felt after a period of strict immobilization. He explained that many of his patients with Ehlers-Danlos Syndrome (which again, I do not have) will prophylactically wear a cervical collar when they have a viral infection and experience worsening neurological symptoms, but often the need is temporary. So I kept the cervical collar on, now doctor-recommended.

I also emailed a new ME specialist I had recently begun to see, Dr. David Kaufman. (Dr. Kaufman is also Jeff’s doctor. Jeff had introduced him to the idea of CCI, based on his own research.) I told him about all of my new symptoms, how they had started after my thyroidectomy, about what happened when I laid on my back or turned my head.

He said, “I think you might have craniocervical instability Jen” and wrote a prescription for an upright MRI.

I tried ruling out every possible alternative explanation for my symptoms: intracranial hypertension, Eagle’s Syndrome, spinal fluid leak. I prioritized these diagnoses because their solutions — a venous stent, removal of an overgrown styloid process, a blood patch — all seemed much better than a craniocervical fusion. But then I reread Jeff’s thread and we spoke on the phone for three hours.

The similarities between our stories were undeniable. He too developed ICC-ME (and Ramsay and every other type of ME) after a viral infection. He too had had a severe worsening of his ME and POTS symptoms and the onset of new symptoms after a surgery. Dr. Kaufman had said to me, “craniocervical instability.” Then my vascular neurosurgeon (who has never met or spoken with Dr. Kaufman) said “craniocervical instability.” When, now three months post-thyroidectomy, I started to stop breathing and losing consciousness while sitting up, even while wearing my hard cervical collar, I knew it was time to stop avoiding the one thing I wish I didn’t have. A third neurosurgeon, one who specializes in craniocervical fusions and other surgeries related to the “neurosurgical complications” of Ehlers-Danlos Syndrome, reviewed my imaging.

Before I knew it, I was in another hospital being wheeled into an operating room for yet another invasive test. This test would turn on its head everything I thought I knew about my case and change my life forever.

Read this disclaimer. Crucially, surgery carries risks and it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.

Path to diagnosis (Part I: An empty sella)

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Originally published on Medium May 29, 2019

My path to a craniocervical instability (CCI) diagnosis began when a vascular neurosurgeon emailed me to say, “some of my Ehlers-Danlos Syndrome* patients develop exactly your symptoms after a severe viral infection.” He reached out because he had seen my brain MRI while watching Unrest. I had included it as an artistic choice, and he noticed that my supposedly normal MRI was in fact not normal. I had an empty sella — a finding he considered significant — and he offered to take a look at my original imaging.

An empty sella is when the sella, a bony space which holds the pituitary gland, appears “empty” (dark/black) on an MRI. This is because the space has been filled with cerebrospinal fluid, flattening the pituitary gland. Most radiologists and neurologists will consider this an “incidental finding,” meaning they believe it’s irrelevant to your symptoms. In my case, as so often happens, the radiologist didn’t even include it in the report. (This is why it is important to always request your original imaging discs, not just the report.)

(Left) An MRI from 2012, ordered by the neurologist who diagnosed me with conversion disorder. It shows an empty sella, which the radiologist failed to include in the report. It is unlikely the neurologist ever looked at the imaging itself. Regardless, both would likely have considered the empty sella an incidental, insignificant finding. In 2018, a vascular neurosurgeon disagreed and considered it a sign of intracranial hypertension. (Right) An MRI with a normal sella.

In reality, it is only an incidental finding if the patient does not also have the symptoms of intracranial hypertension: elevated pressure in the head. As it turns out, I did have symptoms, namely headaches and a feeling of pressure in my head and behind my eyes. This rise in pressure can be due to excess cerebrospinal fluid, excess blood or in some cases, excess brain (e.g., brain swelling). With symptoms, empty sella is considered a sign of intracranial hypertension.

This neurosurgeon (who again, is not the neurosurgeon who ultimately operated on me — his is a different specialty) treats a wide range of the usual vascular neurological conditions like stroke or aneurysm. He has also developed a sub-specialty treating intracranial hypertension in patients with Ehlers-Danlos Syndrome.

The neurosurgeon looked at my original 2012 MRI and confirmed that yes, I had an empty sella and that I also had excess cerebrospinal fluid in my optic nerve sheath, a second sign of intracranical hypertension. There is a scene in Unrest, after I come back from my college reunion, where I collapse on the front porch, screaming. I say, “I could feel my head, swelling, pushing out my eyeballs.” Turns out, that is what it feels like to have spinal fluid behind your eyes.

He further explained that in patients with high intracranial pressure, the spinal fluid needs somewhere to go. So the fluid will fill the sella, crushing the pituitary gland, and fill the optic nerve sheath. He said that while these findings were consistent with intracranial hypertension, to confirm the diagnosis, I would first need to do an MR venogram (an MRI that uses contrast to visualize the veins) and a high volume lumbar puncture.

So in March 2018, after all the travel for Unrest had died down, I had an MRV. It confirmed the empty sella and the excess optic nerve sheath fluid he had seen on my 2012 MRI. It also confirmed that I had bilateral transverse venous sinus stenosis (TSS), a narrowing of two veins in the back of the head that drain blood from the brain. TSS is found in 83% of cases of intracranial hypertension (compared to 3% of controls). (It is not known whether TSS is cause or effect, but there is growing evidence that stenting one of the transverse sinus veins can resolve intracranial hypertension.)

One purpose of the high volume lumbar puncture was to see whether temporarily reducing spinal fluid volume in my brain, and thus lowering my pressure, would result in any changes in my symptoms. It wasn’t a sky-opening miracle but several symptoms did improve. Notably, I could read again! (It was through this experience that I learned that my inability to read long-form was my eyes getting tired moving left to right across the page due to the constant pressure behind them.) My head felt clearer. I could also turn circles in my wheelchair and be in a car going in reverse without becoming dizzy or confused, something that had been a major problem since the beginning of my illness. A picture was emerging, based on both objective and subjective evidence, that I indeed had intracranial hypertension.

There was just one snag: my opening pressure (the pressure measured when they insert the needle into your lumbar spine) was only 17 cm H20. The diagnostic criteria for classic intracranial hypertension requires an opening pressure of 20 cm H2O or higher in non-obese patients, 25 cm H2O or more in obese patients. I had the symptoms, the imaging, but not the opening pressure.

My neurosurgeon explained that while some of his EDS patients do have opening pressures out of the normal range, most of them do not but rather fall into a “high normal” range. (Above average, but still technically normal.) He said, “but for some reason, this still causes symptoms and many benefit from treatment.” Treatment, in the case of his patients, generally involves either putting a stent in the collapsed veins (usually the transverse sinuses) to restore normal blood flow or implanting a shunt to drain excess cerebrospinal fluid. (He is not a fan of long-term use of Diamox, a drug that decreases cerebrospinal fluid production. I know some people swear by it.)

OK, by now you may be thinking, “I don’t have EDS, Jen doesn’t have EDS, what does this all have to do with ME?” I’m not sure, but there are clinicians in the United Kingdom who found exactly the same phenomenon among a cohort of CFS patients presenting with pressure headaches. Here is the summary of that research, which I wrote on this MEpedia page (see MEpedia for the original citations):

A case study of a woman presenting with symptoms of CFS and pressure headache, who was diagnosed with borderline intracranial hypertension, found that her CFS symptoms resolved with the placement of a transverse sinus stent.[3] A cross-sectional study of twenty patients presenting at a headache clinic found that a large proportion of patients had borderline intracranial hypertension, with four meeting the diagnostic criteria for IIH (mean cerebrospinal fluid pressure was 19 cm H2O (range 12 — 41 cm H2O); however, none had clinical signs of IIH. Cerebrospinal fluid drainage via lumbar puncture improved symptoms in 17/20 patients.[4] Researchers speculate that a subset of CFS patients may have borderline cases of idiopathic intracranial hypertension without papillodema.[5]

My neurosurgeon said that while my symptoms did improve with the lumbar puncture, he suspected the problem was more likely to be related to blood flow. The next step was to perform an invasive angiogram, a test conducted under twilight anesthesia, where they insert a probe via a vein in your groin and directly measure the pressure in your transverse sinus veins. Yikes.

Meanwhile, my thyroid cancer surgery had been scheduled for June. I put the intracranial hypertension diagnosis on the back burner. Then, as a consequence of the thyriod surgery, as I write about here, I got much, much much, much worse.

I developed two troubling, new symptoms: I would stop breathing every time I laid on the back of my head and would fall over and become non-responsive every time I turned my head to the left. To be clear, these symptoms were not a part of my clinical picture the first seven years of illness and only appeared after my thyroid surgery . In addition, after thyroid surgery, all of my ME and POTS symptoms got much worse.

In the process of trying to find out why all this was happening to me, I went to a few of the top institutions in the country. I went to UCLA (they, unhelpfully, scheduled me for a sleep study and told to come back in three months). I went to Stanford (where they actually found the lack of breathing and non responsiveness concerning and urgent — I got a really wonderful workup but one that yielded no concrete answers).

In the midst of all of this, I remembered the invasive angiogram test. I scheduled the test and flew back to the East Coast. It was the most precise test for detecting abnormal arterial or venous blood flow (better than any kind of standard, static imaging with contrast) because it could directly measure the pressure in my arteries or veins across any areas of narrowing in real time. As my neurosurgeon said many times, a vein can be compressed on imaging (a static picture) but it doesn’t necessarily mean that it’s changed the rate of blood flow (a dynamic process). Yes, I let my doctor run a probe from my groin, through my body cavity, up my neck and into the back of my brain while I was reasonably awake. (After that experience, David Systrom’s invasive cardiopulmonary exercise test doesn’t sound so bad after all…)

The upshot of this test was that I did have a pressure gradient in my transverse sinuses: blood was draining slower than perhaps it should be. However, it wasn’t severe enough to be causing all my symptoms, nor could all of my symptoms be explained by poor venous drainage from the brain. When I turned my head — a move that, since my thyroid surgery, would provoke a worsening symptoms — the pressure gradient rose significantly, but the effect was transient (an observation that would be repeated later, under an entirely different set of circumstances).

My neurosurgeon said that I was a candidate for a stent and explained the risks and benefits. He was clear, though, that it would be unlikely to improve the acute symptoms that had developed since my thyroid surgery.

Rather, my symptoms most likely had a different structural cause, one he did not treat but often saw in his EDS patients. He told me, “I think you have craniocervical instability, Jen.”

Read this disclaimer. Crucially, surgery carries risks and it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.

To learn more about the possible links between intracranial hypertensionand ME, read the content and references on the intracranial hypertension MEpedia page.

See also this review article, “The link between idiopathic intracranial hypertension, fibromyalgia, and chronic fatigue syndrome: exploration of a shared pathophysiology.”

*Just to clarify and as I have said many times, this neurosurgeon was talking about his patient, not me. I do not have Ehlers-Danlos Syndrome.

A new diagnosis to add to the list

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Originally published on Medium Nov 7, 2018

I have craniocervical and atlantoaxial instability

When I woke up in the recovery room at UCLA hospital, the first thing I noticed was that my jaw hurt. I’d just had a total thyroidectomy for Stage 1 papillary thyroid cancer, a 2.7 cm nodule. I was diagnosed years ago, but opted not to have surgery while I was largely bedridden due to Myalgic Encephalomyelitis (ME). I was scared that if surgery knocked me down a peg or two, it might be more than I could survive. Moreover, I read every study I could find on outcomes of people with papillary thyroid cancer going back to the 1950s and no matter the intervention (inclusive of doing absolutely nothing) the ten-year survival rate is 97–99%. The nodule had not grown or changed for six years and I had bigger fish to fry. No one could tell me what my risks truly were because no one understood the impact of this particular surgery on my particular disease, and in the early days, I still had the fantasy that maybe I would get better.

That I had improved was undeniable. Over the years, treatments like antivirals (namely Valcyte), fludrocortisone for my postural orthostatic tachycardia (POTS), and pyridostigmine (Mestinon) had raised the floor and the ceiling. Last year I flew around the world releasing my documentary, Unrest. I survived a 22-hour flight from Los Angeles to Melbourne. It was the joy of my life that I could be in the world with a film I had been too sick to shoot in person. So once Unrest had its broadcast on PBS and then was streaming on Netflix, I decided it was time to get this thing out of my body.

Following the surgery at UCLA, I stayed overnight. I remember not being able to move at all. I had to use a bedpan and had to be turned over by a nurse. We thought it was just the anesthesia. The next morning, someone from the endocrine team came in and said cheerily, “We’ll get you up and walking in no time,” not realizing I am a regular wheelchair user. I remember trying to explain how weak I was. When it came time to leave, I tried sitting up and slumped over in my husband, Omar’s, arms, unable to move or speak. We thought it was just an exceptionally bad POTS/dysautonomia flare. It took eight hours of negotiation to be allowed to leave lying flat. No one understood why I couldn’t just sit up. Eventually, they took me to the curb, supine, in a reclining orthopedic wheelchair.

That was June 12th. For the next month, I recovered, essentially in bed. Just after the 4th of July, I flew to San Francisco to accept an award from the National Organization of Women. I barely made it but I wanted to show up as I felt is was a moment to meet and make new allies for our cause.

When I came home, it me hard: a cross between a “crash” and a normal viral illness. All week, I had a sort of physical deja-vu, the sudden return of symptoms I’d experienced during my first bout of being bedridden, but harder and stronger than I’d ever felt them before. I had a sore throat and flu-like symptoms, but also stabbing pain in my head, heart, and gut. The last time I had felt that way, it was 2012. I still had not been diagnosed, and I was sitting in the shower in our apartment in Cambridge, MA, with the same stabbing pain my chest, screaming.

After the virus (or whatever it was) went away, I woke up one morning and my arm wasn’t just numb (that used to happen sometimes) it was completely flaccid. I walked to the bathroom and it just hung there as I tried not to crash into the wall. My legs alternated between numbness, pain, and weakness. Sometimes I would get confused and couldn’t speak at all. Again, none of this was new exactly, it was just much worse than ever before.

One night, as I laid down to go to sleep, I stopped breathing. To be clear, I was fully awake. I lay there, mostly aware of my surroundings, but I couldn’t move and I couldn’t speak and when I tried to breathe, nothing happened. I tried again and again. If I tried really hard, sometimes I could make my diaphragm quiver. But I could never will myself to breathe. After about 15–45 seconds, the automatic breathing response that should have been there would kick in. I’d gasp for air and as soon as I’d gotten some, I’d stop breathing again.

For 45 minutes I did this. Breathe, not breathe, breathe, not breathe. We had no idea what was happening (this had never happened before). Finally, we realized that if you rolled me onto my side, I could breathe normally. So that’s what we did: I stopped sleeping on my back and haven’t laid on the back of my head since July.

Then one day I realized, if I turned my head too far to the left, it would immediately triggger my symptoms: I would not only stop breathing, I would start listing leftward, unable to move or speak. I have enough friends with Ehlers-Danlos Syndrome (EDS) that while I didn’t yet have a name for my eventual diagnosis, I knew it was worth trying a cervical collar to see if I felt any better. I ordered a Philadelphia collar from a local medical supply company and suddenly, I felt OK for the first time in months. And not just because it prevented me from turning my head and exacerbating symptoms. Even when looking straight ahead, it was clear that the way it was somehow stabilizing my head was helping me to think more clearly and have fewer of what one of my doctors so eloquently describes as “angry brain” symptoms. I wore it all the time (even at night) and while it wasn’t quite enough to let me sleep on the back of my head, all the numbness and confusion went away.

My road to diagnosis is a story unto itself. I won’t share it here but suffice it to say that I was eventually diagnosed with craniocervical instability and atlantoaxial instability (CCI/AAI), a condition that can develop after a physical trauma, like whiplash, but also commonly arises without any apparent causes in people with Ehlers-Danlos Syndrome, Down Sydnrome, dwarfism and rheumatoid arthritis. My craniocervical junction, that is, the region where the skull connects to the upper cervical spine, is hypermobile due to “lax” ligaments. The kicker for me is that we’re talking about 4mm. 4mm of motion! (<1.5mm of mobility is “normal,” anything over 2mm is probably surgical and I have 4mm of mobility.) Why does this matter so much? Well, it matters for one because that area where your skull meets your spine is where your brainstem becomes your spinal cord. And a consequence of this excess mobility has meant that my skull is literally descending, pushing down onto my spine, a phenomenon called cranial settling. This is causing brainstem compression, which can affect the autonomic nervous system and of course, your ability to breathe. It’s also clearly playing a role in some of my peripheral neurological symptoms, as evidenced by their disappearance when I wear the surgical collar.

I’ve probably had a mild form of craniocervical instability for years. I remember when I was at my sickest, Omar would try to take me out for walks in my wheelchair and if he hit a bump in the sidewalk, I’d start screaming. Same going over potholes in the car. Sometimes, he’d point to something he’d seen out of the car window, a rainbow, a funny billboard, and I’d turn my head too quickly, get confused and feel neurologically “weird.” (We made a rule that when we’re driving together, he’s not supposed to point at things.) There were so many symptoms that I lacked language for, and they were all symptoms of mild CCI/AAI. Our working theory is that when my neck was extended during thyroid surgery to allow the anesthesiologist to intubate me and for the surgery itself, it may have exacerbated what was a mild, undiagnosed CCI/AAI case and made it a severe one.

Later this month, I’ll have surgery to fuse my neck from C0 (the skull) to C2 (the second cervical vertebra): a permanent, internal cervical collar, in a way, although one that will lift my head higher than any collar ever could. What range to fuse varies by case. Surgery is not the right answer in every case of CCI/AAI, but according to my surgeon, the severity of my symptoms, low quality of life, and degree of mobility on imaging make me a candidate for surgery. And I’ve only gotten worse over the last many months. Every trip in a car or on a plane to see a doctor, every exam where I’ve been asked to turn my head, every imaging study, while all necessary, has only exacerbated the instability. Still, it’s a major surgery. It typically runs about four to eight hours. Risks include injury to the vertebral artery, dural tears, hardware failure, infection and death. It takes at least three months to recover, but most patients say true recovery can take one year. Often, the swelling around nerves post-surgery means your symptoms get much worse before they start to get better.

When I was first diagnosed, I only intended to share my experience six months later, when I’d healed and was on the other side of the worst of it. But when I was in the hospital last month, there were times when I was in so much pain that I really just needed to shout it out on social media. When I did, so many of you were there to offer your support and advice. The next many months are not going to be easy. I have my husband and my family, but there is something special about the support that another person living with chronic illness can give. I’m “coming out” in part because I want to be able to seek that support and to talk about this.

I know that the public profile around my story that came with Unrest means that I’m not just a private individual anymore (as much as I would like to be!). While I can’t control my health trajectory or medical diagnoses, there’s a fear that if I represent to others what ME is, but don’t represent their understanding of this illness or what their experience has been, that I will endanger or erase that understanding or experience. I was very careful in the film not to point too strongly in any one direction as far as what might cause ME because I know how much is unknown and how quickly the science will change. I was careful to obscure what my personal treatments are because I know all too well how differently every patient responds to (or tolerates) various medications. So, I want to be clear, this story is mine and mine alone. These post-thyroidectomy symptoms are not representative of ME patients generally. As they say in science, my specific experience represents an N of 1. But I also believe that there is power in sharing our stories and that someone’s life might be helped because today, I shared mine.

Do I still have ME? Of course I do. I still meet the International Consensus Criteria (ICC). If by some miracle after my surgery, I don’t, I would hope that you would wish me well. I’ve read nearly every pre-1984 case report on the epidemics and my onset and the development of symptoms look very much like what you read in these reports. This in a way makes sense as my trigger was likely an enterovirus; to this day, over multiple tests, I still have sky-high antibodies to Coxsackie B4. I’ve been diagnosed by six different ME/CFS specialists over the years. I have low natural killer cell function, a very clear, acquired issue with my pyruvate dehydrogenase enzyme, and an abysmal VO2 max test. My symptoms match Ramsay’s definition, the Fukuda criteria, the CCC, and the ICC. By nearly every definition, I have ME, CFS, and ME/CFS.

But of course, two things can be true at the same time. In fact, many things can be true at the same time: patients with ME are more likely to have POTS, EDS, and MCAS, none of which invalidate their ME diagnosis. Merryn Croftshad both ME and EDS. Byron Hyde wrote that “Patients with pre-existing or newly-discovered (a) Ehlers-Danlos Hypermobility Syndrome, (b) Collagen diseases… are among the most disabled patients we have seen.” The Stanford Genome Technology Center is currently researching the possible genetic link between ME and EDS, and joint hypermobility is mentioned in the ICC as a common feature of pediatric ME. Anywhere from 11 to 70% of patients with ME also have postural orthostatic tachycardia (POTS). Some of us have been diagnosed with mast cell activation syndrome (MCAS) — a hot topic at a recent summit of American ME clinicians. Many of us have sensitivities to food, odors, medications, and environmental triggers whether or not we have an MCAS diagnosis and still others have no such issues at all. Fibromyalgia and SIBO are also commonly comorbid. We are all slightly different and even within a single patient, the severity of particular symptoms or comorbidities can ebb and flow. We need more research to understand what proportion of patients with ME have these (and other) comorbidities and complications.

In addition to ME and CCI/AAI, I have POTS, MCAS, and intracranial hypertension. I used to think that these extra diagnoses were superfluous in a sense as all of these diagnoses’ symptoms are listed in the ICC. What diagnosing comorbidities can do is increase our understanding of our specific cases, and open up an entirely new realms of specialists, science, and treatment options. It’s overwhelming enough to keep up with what is happening in the ME/CFS world, let alone try to join other communities, but many cases of POTS and MCAS, for example, are eminently manageable with medication. While getting a better handle on the symptoms of your comorbid conditions won’t cure your ME, it can help you live a much higher quality of life. I have not yet found the cause of my intracranial hypertension or adequate treatment for it. I do know, though, from a high-volume lumbar puncture test that, if I was able to bring my pressure down, I could read books again, which would be kind of awesome.

I think a helpful analogy is how most people with hypermobile EDS (hEDS) think about their condition. They think of hEDS as their “core” disease and the cause of many potential, secondary diagnoses. There is a general awareness of the comorbidities and complications that frequently occur with hEDS including: POTS, MCAS, CCI/AAI and also other neurological complications like Chiari malformation, tethered cord, spinal fluid leaks, and intracranial hypertension. EDS experts will test their patients for these comorbidities and complications, of which any given patient may have one, none, or several. Many things can be true, everyone is different.

I’ve had some people with ME tweet to me that “I have ME, I don’t need any other diagnosis.” If that works for you, then more power to you. However, again, diagnosis can for many open up new avenues of treatment, science and a better understanding of one’s individual case. I hope we can move to a place where, like people with EDS, we can say, “I have ME, it’s my “core” condition, and I also have….” or “and that has given rise to…” And that we can discuss and seek diagnosis for the other things that some of us may indeed have without fear that it will somehow dilute the meaning of our original diagnosis or the recognition we are fighting for.

Don’t you actually just have EDS? This is a deep question. I definitely have some hypermobility. In addition to my wonky cervical junction, I’ve just learned this week that my right hip constantly subluxes. I never noticed it before, although as I learn more and more about this new dimension of my illness, weird moments from the past come into focus. In 2011, while organizing TEDxCambridge, I woke up one morning to find my right leg, foot, and toes clumsy, such that I was barely able to put any weight on it. With the new language I have now, I might even say that my proprioceptionwas impaired. I went to a medical supply store, bought a cane, used it for a few days, symptoms went away, and then completely forgot about it. (It was in part on the basis of ataxia of my right foot and difficulty walking that I was later misdiagnosed with conversion disorder.) The EDS internet noticed something was wrong with my hips long before I did. There is a much screen-shotted and discussed scene in Unrest where I awkwardly walk from my deck and into the backyard; it’s apparent something is wrong with my right leg.

Prior to becoming nearly 100% bedridden due to CCI/AAI, I’d probably maintained enough muscle mass to compensate for my hypermobility. It’s possible that the deconditioning from being in the hospital, especially after I wasn’t even getting out of bed to go to the bathroom, made things worse. Sleeping on my side because of my breathing issues hasn’t helped matters. My body is also doing a lot of work to compensate for the CCI/AAI and my unstable hips. If I’ve learned anything from PT, it’s that everything is connected. My thoracic spine and shoulders are now locked in an exaggerated kyphosis—a hunching of my upper back and shoulders — in an attempt to balance my head on my body. If I try to throw my shoulders back and straighten my spine, I immediately get crippling neurological symptoms. I am now in a lot of pain when before, pain was never really a part of my illness.

I have a great EDS physical therapist, but I also have ME, which means I have PEM. When I try to do physical therapy, I’m not just weak. My muscles burn in ways that are probably pathological (see: my non-functioning pyruvate dehydrogenase enzyme). When I am able to do PT, the next day, I can do about 1/3 of what I did the day before: if I can do a shoulder-strengthening exercise for one minute, 30 seconds one day, the next day I am lucky if I make it to 30 seconds. I’m still doing as much as I can, whenever I can, because I know it’s the only way to prevent my body from falling apart and to recover from surgery, but in order to maintain this level of activity, I have to figure out how to pace myself.

There are 13 types of EDS, twelve of which can be identified through genetic testing. While I am going to see an EDS geneticist after my surgery, based on symptom descriptions, I’m pretty sure I don’t meet the diagnostic criteria for classical EDS or any of the other testable forms.

As for hypermobile EDS (hEDS), the one type without a known genetic marker, I also don’t meet the current diagnostic criteria. For one, I don’t score high enough on the Beighton, which is often used clinically to diagnose hypermobility (as far as I can tell, I am a 1/9) or the additional criteria for generalized joint hypermobility. As far as I can tell, I am a 0/12 on Feature A of Criterion 2, no positive family history of hEDS (although hypermobility does run in my family), and as for C, I had essentially no musculoskeletal pain for my seven years of ME up until a surgical procedure (a fibrin patch) one month ago, after which I’ve had daily, bilateral leg pain. I also don’t meet the Brighton criteria or any other basic assessment for hypermobility, such as Hakim’s questionnaire (0/5).

I know that the Beighton was a screening criteria that was never meant to be used for diagnosis, but it’s what the definition is and I think given how common hypermobility is in both perfectly healthy people and in people who have ME, it’s important to stick to the criteria until science gives us a reason to do otherwise. I am still going to be evaluated by an expert as if self-diagnosis isn’t a good idea, self-exclusion from diagnosis isn’t either, but as far as whether I have hEDS as it is currently defined, signs point to no.

And yet, hypermobility is a really important feature of my illness. I for one am lucky that I have access to some great EDS doctors and an EDS physical therapist to help me with these aspects of my case, just as I have a great ME/CFS specialist helping with the viral and immune aspects, and a great specialist in this entire landscape of conditions who helps manage my POTS and MCAS. It takes an entire team, and it took about seven years to realize this and to find them.

I didn’t talk a lot about how I got my specific diagnosis. Again, that’s a story for another time. But I might never have gotten a diagnosis of my CCI/AAI had Jeff not shared his story.

Like me, Jeff has (or rather, had) ICC-ME. Mostly homebound/bedbound, he had a minor dental procedure and started to notice something was wrong with his neck. His symptoms then became much, much more severe. It was a harrowing fight, but he was eventually diagnosed with CCI/AAI and now about one year post-surgery, considers himself recovered. He goes deeper into what the diagnosis is and shares resources regarding how to get diagnosed if you think you might have it. (Since sharing his story, six other people on Phoenix Rising have been diagnosed with CCI/AAI.)

Over the last year, I have been lucky to have had a unique learning experience. I received thousands of emails and met nearly as many people at in-person screenings of Unrest. In addition to hearing from many with fibromyalgia, EDS, POTS, Lyme disease, MCS, and MCAS, I read or heard the stories of thousands of people with ME. From ME patients, I heard the usual arc of onset following infection or physical trauma, the struggle to be believed, the supplements and medications that we collectively know about and are discussed on our forums and Facebook groups, the rare recovery story that’s hard to make sense of because each one is completely different. What was new to me and piqued my interest were the stories of spinal fluid leaks, intracranial hypertension, cervical stenosis, and other structural issues that have rarely been researched and are likely underdiagnosed in ME patients. These stories opened a door for me long before I knew how much I would need the resources and insights I would find on the other side.

This is why I believe so deeply in patients with these commonly comorbid conditions communicating across diagnosis. Had Jeff not delved deeply into another literature and another patient community, fought hard to find out what he had, and shared his story, I may never have gotten diagnosed. And getting this diagnosis may well have saved my life.

I don’t know what my outcome will be. I’m trying to keep my expectations low. Very few people with ME have had this surgery. Thousands of people with EDS have had it and for EDS patients, everyone’s post-surgical outcome is different. It’s been a hellish few months since June, some of the most difficult of my life, but I’m optimistic that at the very least, this surgery will significantly improve my quality of life. I’m at a point now where it’s very clear I have no choice.

In short, by every definition or measure, I have ME. I also have craniocervical instability. We don’t know enough at this stage to know whether those are independent or related. Either way, my work as an artist and activist fighting for research, funding, awareness, and justice for patients with ME will continue. At the same, I’m fighting to try to save my life and live the best life that I possibly can. I share my diagnosis because I know I will need the support of friends and fellow travelers on social media as I go through this experience. I share in the hopes that it might help someone else who reads this to find answers and live a better life, too.

Read all the posts in my CCI + tethered cord series

Read this disclaimer. Crucially, it’s important to remember that in medicine, the same exact symptoms can have multiple, different causes. We have no idea how prevalent CCI is in our community and there’s been no research into its relationship with ME. We do know that it is more common among patients with EDS.

“Most doctors have no repercussions for treating these patients like garbage“

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This weekend, I responded to Dr. Monica Gandhi’s New York Times op-ed, which argued for using hospitalizations (rather than cases) as a means for gauging what public health measures are appropriate to recommend or mandate to the public. There are a number of problems with this position, chief among them that hospitalizations are a lagging indicator of an outbreak. By the time your ER is flooded with new COVID cases, you are already weeks late in implementing restrictions that could have saved lives.

However, there is another major reason why cases help us to measure the true cost of the pandemic: Long COVID. Most patients who develop long COVID will never see the inside of a hospital during their acute infection. Long COVID can develop following “breakthrough infection” in the vaccinated and even asymptomatic infections.

So in response to Dr. Gandhi’s disastrous recommendation, I wrote the below tweet. I was also prompted by #MedTwitter’s near silence on the subject of COVID’s disabling effects, which will ultimately affect several orders of magnitude more people than it will kill. We are in the midst of the single greatest mass disabling event in the history of the world. Two years in, I thought the medical community would recognize what was unfolding and speak up on behalf of so many millions. By and large, they have not.

This morning, I received a direct message from a cardiologist, who asked to remain anonymous but gave me permission to share his message. (I have had a longstanding interest in post-viral illness after becoming ill in 2011/2012 following a severe viral infection. If you are interested in learning more see my film Unrest, which is available on Netflix.)

His message is the most clear-eyed, brutally honest perspective I have ever heard a physician articulate regarding why, in his words, most doctors face no repercussions if they “treat these patients like garbage.” I share this because I have always believed that truly solving problems requires seeing them clearly and truthfully.

While this is one doctor’s perspective, I hope this aids both patients and physicians in better understanding the callousness we are facing, perpetuated by both individuals and the systems of which they are a part.

From a cardiologist. Note: I’ve lightly edited the below for clarity.
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I had previously been treating a fair amount of POTS/CFS. They had previously been a marginalized community for a number of reasons. First, most doctors have absolutely no idea how to treat these conditions. They do not have standard pathologies and haven’t been taught them medical school. In fact they continue to not have a definitive pathology, but rather a collection of symptoms, called a syndrome. It requires a little faith to realize that it exists which is usually brought upon by seeing various patients in various walks of life who all have the same “syndrome”. You have to be incentivized to stop and really really listen to your patient. Which brings me to my next point.

Second, most doctors have no repercussions for treating these patients like garbage. These doctors don’t know the answer and don’t wanna waste their time. They know before they walk in the room that the encounter will be useless for all. The[y] rationalize being jerks. I’ve been there before. It occurs overwhelmingly when you have a doctor who is employed by a large conglomerate healthcare center for whom patients are obligated to see via HMO/network restrictions [editor’s note: HMOs in the US operate similarly to the UK’s NHS]. If the patient is treated poorly, the patient has absolutely no recourse. The doctor has a guaranteed stream of patients due to their employment and due to the insurance network trap. The incentive to either try, be nice, be civil, or just generally be a decent human being is gone. They simply want in-and-out of that room ASAP, without any concern for how it might impact their reputation. Because it doesn’t matter.

Being a private practice physician, my bias lies with private practice physicians. Not a single patient that I see has any obligation to ever come back and see me again. The only reason people come back to see me is because they have derived some benefit from seeing me. Call it corny, but market forces are actually in play. I am unable to function unless I deliver something.

Third, these patients take a great deal of time. The majority of the time is simply spent listening and understanding their symptoms. After that, helping them to understand the basis for the syndrome takes further time. In a fast world, people don’t like this. Once you get the hang of it however, you can derive a lot of satisfaction in helping people who had previously not been helped.

So now enter Long Covid. Most doctors simply don’t wanna deal with it. Those who have already been treating patients with more undefined syndromes are indeed treating Long Covid and doing the best they can with minimal information. There are some phenotypes of it that are very similar to pots/CFS. So you end up seeing several cardiologists and neurologists with decent size volumes of these patients. I’m just one.

So from my vantage point I can see that society at large is happy to ignore the death of 800,000 individual human beings. It means nothing to them if it interferes with their politics and worldview. So if we can’t even get empathy for the dead, how are we getting any empathy for people who have a dysautonomia to the extent that they can’t get out of bed, care for the children, or go to work? You can cite large numbers of these people which will be readily ignored by the masses of petulant children that refuse to take any of that seriously. You can cite individual anecdotes of people under duress, however their misery will simply be discounted by other petulant children who will intentionally miss the point. For crying out loud most doctors don’t even get it. The average Joe on the street basically thinks it’s a bunch of complainers. While I can assure you that it is not, and that they are indeed ill, society at large simply doesn’t believe it. More precisely, the anti-Covid cohort simply doesn’t believe it.

Those who are born with the gift of empathy are already on our side.

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A collection of images from protests around the world held in 2018 to raise awareness and demand change for patients living with myalgic encephalomyelitis (ME), also called chronic fatigue syndrome. 80% of cases follow a viral or bacterial infection. many patients with long covid meet criteria for Me/CFS and other syndromes that can occur after an infection, such as POTS, dysautonomia, or chronic lyme disease.

TOP LEFT: DOZENS wearing. Matching red t-shirts that read “millions missing’ lay down in a public square in the uk to represent the millions who are bedbound and cannot be visible in public spaces. Top right: protestors in new york wear blue veils and hold mock gravestones to represent patients who cannot be present. Bottom left: red umbrellas layed out on a patch of grass in a public square spell out “millions missing.” Bottom center: allies hold up a blue and weight sign in a packed soccer stadium (text in german). bottom right: an artist with me has composed herself to be completely engulfed by pill bottles, holding a sign to represent what she is missing in her life. The sign reads, “Hiking with my kids, dancing, my brother.”