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.