A new diagnosis to add to the list

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.

If you’re reading this, and you’re not a patient, I’m about to get very inside baseball.

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 Crofts had 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 proprioception was 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.