This is the equivalent of what The Guardian calls ‘The Long Read’. Apologies! I never intended to write a medical blog but so many people had so many questions about my recent diagnoses and how they came about that it seemed easiest to answer them all together in a narrative which makes some kind of chronological sense. I hope it is readable and not unbearably long. I have included links (different coloured type) to more medical information and the stories which triggered my journey with this so far, for those whose stamina and interest is great.
On Wednesday 20th June I spent the morning in an upright MRI scanner. On Thursday 21st June I received my first significantly abnormal test results in nearly 35 years. The radiologist’s report suggested I definitely had Atlantoaxial Instability (AAI) and that some of my measurements were also indicative of Craniocervical Instability (CCI).
I suspect it is unusual to feel like dancing around the kitchen, and to cry tears of relief and elation when told you probably have a serious neurological condition that (unlikely worst case scenario) could paralyse or kill you. But it felt amazing after thirty five years of dismissal, disbelief, harmful treatments, and outright abuse from doctors at times, to finally have objective proof that there was something seriously physically wrong with me, and something that could potentially explain all my symptoms. I had to wait another five weeks to get confirmation of both diagnoses (CCI and AAI) from a specialist neurosurgeon in Spain.
Those of you who have read my blogs about playing the violin will know that when I was first unwell (following a viral infection in 1984) all my worst symptoms seemed to be related to my neck, and doctors initially suggested I may have injured it playing the violin so intensively.
The bad cold (and it was no more than a bad cold) went away but I was left suddenly needing far more sleep than before in order to function and waking every morning feeling dreadful. I woke – and still do – feeling as if someone had whacked me across the base of my skull with a metal bar, and also feeling extremely hungover: exhausted even if I had had a decent night’s sleep; a stonking headache emanating from the base of my skull; a fuzzy head; a heaviness behind my eyes making me feel I could not see properly; vague dizziness; bad pain and stiffness in my neck; and my limbs feeling like lead. Getting up became a chore for the first time in my life, and staying up during the day was even harder. I was going into school late, coming home early, leaving lessons to lie down as the effort of staying upright all day was beyond me, and my head felt so heavy that I could not hold it up.
An orthopaedic surgeon did x-rays and, when they were normal, suggested physiotherapy. Over the next few years I tried various forms of physio, chiropractic, and acupuncture, all aimed at the neck stiffness and pain. They seemed to make the pain spread – down my shoulders and back, and into my limbs – rather than improving it.
I saw an ophthalmologist who found nothing wrong with my eyes. A neurologist tested my reflexes and made me walk in a straight line, declared I didn’t have Multiple Sclerosis and dismissed me. After that the words ‘stressed’ and ‘depressed’ started to come up. I knew I wasn’t stressed or depressed (well maybe slightly stressed by all these weird symptoms, and being constantly disbelieved and dismissed by doctors) so I gave up on doctors unless totally necessary.
At first if I got enough sleep and paced myself it was manageable. The one thing guaranteed to make the neck and head pain worse was playing my violin but when I stopped for a while I didn’t get better so I carried on playing despite the pain. I took up running, hoping that getting fitter would help. With every step pain jolted from the base of my skull over my head and into my eyes, and after a run I would have to lie flat to recover, stabbing pains shooting from my neck over my head, but I was assured by doctors and physios that there was nothing wrong with me, it couldn’t be harming me, and sport was good.
The only helpful thing was a neck support collar which a physio gave me at the beginning. I wore it at night and on days when my neck pain/headaches were really bad. It seemed to reduce the level of pain I woke up with and help me to stay upright for longer during the day, with fewer bad symptoms. Later a doctor told me that I mustn’t wear it as there was ‘nothing wrong’ with me, and it would just make my neck muscles weaker.
It was in May of my first year at Oxford (1987) that I completely collapsed for the first time, in the middle of a day-long rehearsal with the university symphony orchestra. A whole new raft of symptoms came to play: severe dizziness and nausea, constant digestive problems, bladder issues, whole body weakness and pain, legs that turned with little or no warning to jelly and suddenly refused to move or hold me up, light and noise sensitivity, migraines, a level of exhaustion I had never dreamed was possible. Just being upright at all became challenging, and any unusual activity, a late night, missing a meal, not lying down and resting enough at intervals during the day, would cause my body to give up on me, refuse to function, and put me in bed.
The college GP seemed uninterested. The ‘stressed’ and ‘depressed’ labels were thrown about despite my protests that I was loving Oxford, loving my course, had lots of amazing friends, and was not depressed or stressed except by the lack of explanation for the weird and severe physical symptoms which now dominated my life and which were making it increasingly hard to function at all.
I staggered through my second year on a reduced timetable with a lot of help and support from the most wonderful tutors and friends and then declined rapidly, to the point of being almost bedridden, during my year abroad, when I was alone in France without any of that support. In spring of that year there was a lot of coverage of ME (Myalgic Encephalomyelitis) in the UK press and just about everyone I knew sent me articles about it. Home for Easter, in April 1989, I finally got a diagnosis of ME, four and a half years after I first became unwell.
The elation of getting a diagnosis soon wears off when you discover that an ME diagnosis will get you even worse treatment by ignorant and arrogant medics than no diagnosis at all. ‘Treatment’ with CBT (in a form designed specifically for ME patients to persuade them they aren’t actually ill, not to help them with managing the condition) and GET (graded exercise therapy) made me iller than ever. Even in 2019 when biomedical research has proved that patients fitting strict diagnostic criteria for ME have numerous measurable physiological abnormalities most medics in the UK are woefully ill-informed and still mistakenly view it as a primarily psychological condition caused by ‘false illness beliefs’ and deconditioning.
Once I had the ME diagnosis I assumed all my neck issues, headaches, eye problems etc. could be explained by that and didn’t look any further.
Then last autumn (2018) I read a blog by an American guy called Jeffrey Woods. He had totally recovered from severe ME after discovering that he had Craniocervical Instability (CCI) and having fusion surgery to stabilise his neck.
I’ve read and heard a lot of supposed ME recovery stories over the years and I don’t usually identify very closely with any of them. But this one was different. He eventually had far more severe neurological symptoms than me but too many things rang bells for me not to be intrigued. His neck issues, his improvement with a neck collar, his severe PoTS (postural orthostatic tachycardia syndrome). I was diagnosed with PoTS (a form of dysautonomia where your heart rate goes dangerously high when upright) a few years ago but have almost certainly had it since the start. And it has been very resistant to standard treatments.
Within a week or so of reading his story I heard that Jen Brea, another severe ME sufferer, who made the award-winning film UNREST, had also received a CCI/AAI diagnosis after developing life-threatening neurological symptoms following an unrelated surgery which appeared to have damaged her neck.
I decided to do more research especially as my own neck issues seemed worse after seeing a new massage therapist. The brilliant person I had been seeing for ages had left and, in autumn last year, her replacement had stretched, turned, and rotated my neck rather than just massaging it. The after effects were not good.
Deep tissue massage of my neck, shoulders, and back is the only thing that provides (very short term) relief from the neck and head pain I’ve had for decades. I’ve seen physios, massage therapists, and osteopaths, and they have all commented on how tight and sore my muscles are and how oddly they behave. It is possible to get them to relax but as soon as I move they go back into tight spasms. No amount of relaxation, meditation, postural correction, or neck-strengthening or mobilisation exercises alleviate this. My neck and shoulder muscles are determined to be permanently tight with only deep tissue massage giving brief respite from the worst of the pain.
My research into CCI was thwarted by the fact that I woke one morning in December unable to read, look at any kind of screen, or even tolerate daylight without feeling as if someone was sticking pins in my eyes. My eye symptoms had been bad for months but this was a whole new level of incapacity and it lasted for weeks.
I mentioned CCI in passing to my GP, fully expecting him to brush it aside. He responded by saying that in my case it might be worth investigating. I pointed out that even getting diagnosed is virtually impossible. You need an upright MRI scan (rarely available on the NHS, even if you can find an upright scanner). And an expert neurosurgeon who specialises in CCI who knows how to interpret the report. According to Jeff’s extensive research there are four such neurosurgeons in the world. Three in the US and one in Barcelona.
‘There are only two upright MRI scanners in the whole of the UK.’ said my GP… (*dramatic pause*) ‘One of them is in Didsbury.’ One mile from my front door.
My youngest sister and I tried to join an online group recommended for more information on CCI but failed repeatedly. She did some research but nobody in the UK seemed to be talking about it or treating it. What information there was suggested neck pain was not necessarily a key feature. I discovered the scan would cost an eye-watering £1300 plus another £240 for the neurosurgeon in Spain to report on it. I could find the money with help from friends and family but it was a heck of a lot of money to spend ruling out a very unlikely diagnosis. It didn’t seem worth pursuing.
And my eye problems were more pressing. For several months I was using all my very limited capacity for medical appointments on seeing ophthalmologists and trying to get back some limited reading and screen capacity.
At Easter my sister and her husband both asked if I’d had the scan yet. I said I wasn’t sure it was worth it. In May I was suddenly admitted to the US-based CCI online group I’d been trying to join for months and found a wealth of information, advice, and a place where I could ask questions and get some answers. That same month Jennifer Brea, who had had fusion surgery for CCI/AAI with one of the specialist surgeons in the US last autumn, reported on her blog that her ME was now in remission and she felt well for the first time in 10 years. She had thought CCI/AAI was responsible for her new and severe neurological symptoms. It turned out CCI/AAI was causing all her ME symptoms even before the known injury to her neck.
I booked the scan.
Five weeks later the Spanish neurosurgeon reported that my scans showed both Craniocervical instability and Atlantoaxial instability and I may be a candidate for surgery.
Traditionally both these diagnoses are thought to occur only in a very small number of people with connective tissue disorders which are known to cause lax or damaged ligaments (Ehlers Danlos Syndrome, Downs Syndrome) or after major head/neck trauma. AAI is sometimes seen in Rheumatoid Arthritis.
Craniocervical Instability (CCI) is instability of the joint where the skull meets the spine/top of the neck. Lax or damaged ligaments mean that the skull is sliding across the top of, and/or pushing down onto the spine. It puts pressure on the brain stem causing brain stem deformity, can impede the function of key nerves to the brain including the vagus nerve (which is implicated in PoTS, and bowel and bladder function amongst other things) and the optic nerve, and compromises key blood vessels to and from the brain, causing reduced blood flow to the brain and diverse neurological issues.
CCI symptoms can include:
- Pressure headache from base of skull
- Dysautonomia (including rapid heart rate on standing)
- Bowel problems
- Chronic fatigue
- Neck pain
- Sleep disturbance
- Balance problems
- Muscle weakness
- Vision problems
- Impaired coordination
- Apnea (stopping breathing)
- Sensitivity to light, noise, smell etc
- Cognitive issues
- Loss of speech
Atlantoaxial Instability (AAI) (also caused by lax or damaged ligaments) is instability of the next joint down– the first two vertebrae of the neck. AAI puts pressure on the spinal cord and, like CCI, can compromise key nerves and blood vessels to the brain. When I turn my head the joint is over-rotating and partially dislocating. My neck and shoulder muscles are tight and sore because they are constantly tensing up to try to protect the unstable vertebrae, keep my spine stable, and prevent more damage.
AAI symptoms include:
- Neck Pain
- Neck stiffness
- Base of skull headache
- Eye problems
- Facial pain
- Feeling faint/fainting
- Bladder problems
- Breathing issues
- Muscle weakness in limbs
Treatment of CCI/AAI is surgical fusion (as a last resort, in severe cases) and is not generally available on the NHS. It is cutting-edge, major, risky, and controversial surgery which, while hopefully correcting the problem, inevitably leads to hugely reduced neck movement (and other possible complications).
People I know of with CCI/AAI in Europe have had to crowdfund to have surgery abroad because local neurosurgeons were offering them nothing. Only four surgeons in the world are doing this surgery regularly and there is very little data on long term outcomes. There is no objective data at all on people with an ME diagnosis and CCI/AAI as only 5 people in this group are known to have had surgery so far. All seem to be significantly improved in terms of ME symptoms and functioning but it is early days. There are now 30 of us documented worldwide with a combined ME/CCI/AAI diagnosis. Far fewer who, like me, do not seem to have either a coexisting general connective tissue disorder or a history of major head/neck trauma.
Conservative treatment (non-surgical) is practically non-existent. Neck brace to protect the spine and reduce symptoms (‘wear for travel’, ‘wear 24/7 for 2 weeks to see if it helps’, ‘wear 24/7 for 6 weeks’, ‘don’t wear for more than 4 hours a day’ is the conflicting advice from the experts on this one. ‘Nobody should use one, they should all be burned!’ said a physio I know. Not helpful!). Avoid heavy impact sports (yeah, that’s going to improve my life a lot!). Don’t do things that make it worse (I’m expecting a complete violin ban, but not before I’ve played for maybe one last time next week. Not playing is hardly going to make me better given how little I can play anyway). Specialist chiropractic maybe (one in London, one in Newport. ‘Do not let any other chiropractor mess with your neck; they could paralyse or kill you!’ Ok, that’s a bit scary.). Prolotherapy or stem cell treatment to try to strengthen the ligaments if you are in the US, have money, and are willing to be a complete guinea pig.
Without treatment both CCI and AAI tend to get worse over time.
NICE have guidelines for surgical fusion for AAI but nothing for CCI. ‘Surgery could change your life.’ said my GP, ‘If you are offered it, you should go for it’. Change my life for better or for worse, and the worse does not bear thinking of.
Nobody can say for sure how many of my health issues are caused by CCI/AAI and whether they are completely responsible for the ME or if I actually also have ME as a separate, but possibly related, condition. People with ME are advised to avoid anaesthesia and surgery unless it is completely essential because both are known to make ME a lot worse in some people. Even in an otherwise healthy person cervical fusion poses a (low) risk of paralysis or death (but then that is also true of living with CCI/AAI without treatment).
‘Dead would be ok.’ said a friend when talking about surgery. What?! Hang on a minute! I know, as a Christian, I believe in a better life beyond this one, and sometimes this one feels pretty grim, but dead is not the outcome I’m hoping for here.
Mr Spanish Neurosurgeon would like me to go to see him in Barcelona, pay for a load more tests to establish how severe the instability is, and consider surgery with him. Clearly that is not about to happen. Well, not for now at least.
Now that I am armed with abnormal scans and a diagnosis my next step is to see neurosurgeons at Salford Royal in September and try to convince them that I am an interesting case and they would like to help. Turning up with an ME diagnosis and saying my neck hurt wasn’t likely to get me anywhere, but now that I have objective evidence proving there’s a problem I’m hoping they will be willing to investigate further.
I am terrified that they will either a) dismiss me outright despite the scans (they probably won’t be impressed that – with the full support of my GP – I initially bypassed them in favour of Mr Spanish Neurosurgeon), or b) they will offer me major surgery that they have little experience of and with no knowledge or consideration of the possible ME complications; surgery which could make me much worse… or a lot better. Or c) they could be sympathetic but have nothing to offer and will say, ‘Don’t have surgery.’ when Mr Spanish Neurosurgeon might be offering me the possibility of surgery and maybe (or maybe not) getting my life back. All the possibilities seem either very scary or very disappointing.
CCI/AAI may be responsible for all, some, or none of my symptoms. (Given my history the latter is unlikely, but AAI in Downs Syndrome is often asymptomatic.)
My initial euphoria at finally having proof of a severe neurological condition has somewhat given way to feeling overwhelmed and somewhat terrified at the implications, the lack of information, the conflicting advice, and the potentially risky and life-changing decisions I may have to make with very little information to go on. (And yet, for the last few weeks, the repeated theme in my Bible readings, and the talks I’ve listened to online from ‘New Wine’ this last week, is: ‘Do not fear!’ ‘Do not be afraid!’ I am trying to hold on to that. My future does not depend on neurosurgeons in the UK or in Spain. It is in the safe and loving hands of the living God who will walk this path with me.)
So it seems that I’ve acquired another little-known and poorly-understood diagnosis, with little treatment available other than controversial and risky surgery, possibly abroad. But at least I can prove I’ve got this one.
Even if there is no treatment I finally have validation. After nearly 35 years of being dismissed, disbelieved, and treated appallingly by so many doctors, I now have actual physical proof that there is something seriously physically wrong that could possibly explain every bizarre and apparently inexplicable symptom I’ve ever had. And the crazy and dramatic fluctuations – walking one minute, on the floor the next. Every tiny head or neck movement I make potentially compromises a different bit of brain stem/spinal cord/nerve/blood vessel, added to which, the more exhausted I am the harder it is for my body to hold my neck and skull stable so the worse the symptoms become. I can stop the self-doubt, the beating-myself-up, the wondering if maybe they are right when people suggest that maybe I just need to think differently, do more, try a bit harder.
And as for all those doctors who suggested it was all in my head: it turns out they may have been right all along. Just not in the way they envisaged.