Hi everyone, thanks for having me here.
I’ve been lurking for a while, reading everyone’s stories and with each one I read my stomach drops knowing that so many have been through the same frustrating and demoralising experience.
I’m 38F, from the UK. I used to work as a doctor in A&E until I was signed off work in December 2022 after having a breakdown to my boss where I told him “I feel like I’ve got dementia”.
I’d had a rough couple of years with separation from my now ex-husband and my Dad dying of a brain tumour, on top of working through Covid before that. Psych said it was depression, even though I pointed out my mood was only low because I had these cognitive issues that I couldn’t figure out - thinking about anything feels like wading through treacle, my intelligence and ability to understand things overall is only a little impaired but my mental processing speed, working & short term memory and executive function are shot, recalling certain things used to automatic/unconscious but now takes active effort, and I was making small but stupid mistakes. In addition, my ability to emotionally regulate has deteriorated and I’ve gone from calm and stoic to easily overwhelmed, tearful and frequently irritable and angry.
Anyway, I resigned myself to what my colleagues said and assumed I was depressed, even though I’ve had episodes of depression before and I was adamant that this wasn’t the case. I took antidepressants and after 3 months was completely convinced that it wasn’t depression - my mood was a little better but the cognitive issues were awful. I’d had to start taking a photo of where my car was parked at the supermarket so I wouldn’t have to look for it again, I ended up with four tubes of tomato paste in my cupboard because I’d forget I bought some, I had post-it notes on the door to remind me to check I’d put my clothes on the right way around!
My balance was off and I’d misjudge distances like stepping off a curb, and when I closed my eyes to rinse my hair in the shower I’d feel myself sway backwards.
I also had angular stomatitis and heels so cracked they bled, so I asked my GP to check B12, ferritin & folate which he did. My folate was low and my B12 was low normal/borderline. I’d been eating less healthily due to crushing fatigue and the mental effort of preparing proper meal so I figured that explained the folate, but my B12 should have been better considering I’d mostly graze and this included meat, eggs & dairy products.
My GP messaged me my folate result but declared he “didn’t think it was relevant”. Given my background, I was aware that symptoms of B12 & folate are actually different depending on which is deficient although they all get lumped together. I asked my GP to check my MMA and homocysteine levels, which are the metabolic substrates of B12 and folate respectively and this is a step recommended if clarity is needed. He wouldn’t, saying it’s not his remit so I got MMA tested privately and it was elevated, so either I was B12 deficient with ‘normal’ levels or my folate was so low that it definitely WAS relevant.
After that rigmarole, I knew there was no way he’d refer me for any other investigations into my cognitive decline so I organised a private MRI.
It showed hydrocephalus, but the radiologist suggested normal pressure hydrocephalus as there is significant ventricular dilatation but without some of the other radiological signs of acutely raised pressure. GP wrote to Neurology who saw me promptly in clinic but decided my cognitive deficits were “attentional” and said he would discuss my imaging with a Neuroradiologist but that since I was born prematurely and had a small intracranial bleed at birth, that the MRI appearances were longstanding from infancy. I’d tried to get my NICU notes a few years prior out of interest and told unfortunately they were stored in a basement and destroyed in flooding, so there’s no way to confirm whether this would be expected. I pointed out to the Neurologist that I never had any symptoms as a child and to cause ventriculomegaly like that, at some point there MUST be raised pressure - if it occurred in infancy I would have an enlarged head since my skull hadn’t fused. As it is, I have a small head - my snowboard helmet is a children’s large size. But he wasn’t interested, he’d made up his mind. His plan was to do bloods for autoimmune encephalitis, an EEG, and to discuss at MDT and then make a decision regarding a lumbar puncture and see me for follow up in 6 months.
I never heard from him again, despite chasing with his secretary and emailing him directly. He works in the same trust I did - I have previously worked directly with him in the course of my training, including picking up a neurological pathology that 2 consultants had missed… but I feel he’s written it off as my mental health too, despite this. I only know the results of my bloods & EEG because I requested my notes.
The EEG did show that after lying down for 10 minutes or so, I have an arrhythmia called bigeminy. I knew this - it’s part of a spectrum of other symptoms which have been getting worse since around 2016.
I tried to explain to my GP, my boss, the psychiatrist and the neurologist that I feel all of these things are relevant due to the time frame they’ve occurred/worsened over… but none of them want to look at it as a whole.
The other symptoms include:
- ‘migraine’ - (usually) left sided headaches with nausea & photophobia plus a dramatic worsening of cognitive symptoms but also other neurological symptoms outside of headache episodes including subtle double vision, sensitivity to light, pulsatile tinnitus
- in 2020 a 15 minute episode of sudden onset marked double vision that then resolved, in 2022 a 6 hour episode of sudden onset vertigo that resolved but then would reoccur with the ‘migraines’ for about 3 months afterwards but then settled (except if I tilt my head to look at the ceiling, so neck & head hyperextension then it can reliably be reproduced)
- ‘allergy’ - sneezing, facial oedema, alternately watery/dry eyes, nasal & ear discharge, episodic wheeze, high eosinophils
- hand & foot swelling with hands worse in the mornings and feet after standing, and at worst this is noticeably pitting oedema
- intermittent tachycardia, exercise intolerance/shortness of breath on exertion, dizziness on standing
- ‘IBS’ - acid reflux, bowel habit alternating between constipation and steatorrhea (oily loose stools), stabbing gallbladder pain, intermittent episodes of severe epigastric abdominal pain associated with fever
- weight gain/inability to loose weight despite being fastidious with diet, symptomatic hypoglycaemia, abdominal fat accumulation, high cholesterol, mildly deranged liver function tests and CRP
On the NHS I’ve seen a rheumatologist for the hands and had ultrasounds of my gallbladder (negative), with spirometry for the wheeze confirming bronchoconstriction. My GP refused allergy testing even though the ‘allergy’ came out of nowhere at the same time the headaches, reflux, palpitations and hand swelling did.
To stop this getting too long, after neurology dismissed me, I started looking into all of these other symptoms as I was convinced they were related. At worst, I had to take 4x the usual daily dose of antihistamines to control the ‘allergy’ symptoms… and it was this fact that lead to a breakthrough. I saw ENT to rule out a sinus issue, then Immunology who said my IgE levels weren’t in keeping with an allergy but didn’t know what it was, then a Gastroenterologist for the abdominal symptoms, but she couldn’t find anything to explain it. Eventually I saw a Neurogastroenterology Professor, because I wasn’t accepting GP’s ‘IBS’ unless it came from an expert.
He was the first one to consider everything together and said the acute abdo episodes were vagally mediated gastroparesis and that he suspected was some kind of dysautonomia. He did some basic bedside testing and said my Valsalva response was wildly abnormal and he struggled to find my carotid at one point. The antihistamines were relevant not for their antihistamine effects but for their anticholinergic effects on autonomic nervous system signalling… and the B12 was relevant because to absorb it from food, you need intrinsic factor to be released from the stomach - this is under control of the vagus nerve. It takes 4-5 years for stored B12 to be depleted, so again this coincided with the timescale of symptom onset.
I tried to contact the Neurologist but got nothing so I organised a repeat MRI. It showed the hydrocephalus was a tiny bit worse.
I then arranged a scan of my neck privately, the website saying you’d discuss your problem with the clinician and they’d work out what to look at. The radiologist doing the scan was clearly skeptical when I described my symptoms and the ordeal it’s been to get anyone to listen. He did a carotid Doppler in the standard supine 45 degree head up position, and it showed good flow through my carotids - with my head resting back and in a neutral position or away from the side being looked at, I didn’t feel particularly symptomatic. He did detect low resistance flow in my external carotid and mixed resistance in my internal carotid on the left - this either means there is an anatomical variation where they lie in reversed positions when scanned at that point in my neck, or it’s often seen when the internal carotid is blocked. Mine obviously wasn’t in the scan position but it gave me another clue re: positioning. He could barely find my right vertebral artery, which fits with it being barely visible on MRI (it also has some concentric density around it and the vertebral vein alongside is dilated on MR).
I didn’t appreciate that the main issue was likely IJV’s so I didn’t ask him to look at those - to be honest I could tell the moment at which he’d decided I was mad, so I didn’t advocate for myself as well as I should have. I’m now nearly 18 months down the line from being signed off work, thousands of pounds worse off, I’ve had to move back to live with family and my job is on the line. I’ve seen so many doctors who’ve either told me I’m crazy/implied I’m lazy or just shrugged and said they don’t know and won’t investigate further… plus the cognitive issues are very much at the fore when trying to explain myself, so it’s just a vicious cycle.
But that’s how I came across Eagle as the potential diagnosis. I went back through everything with a fine tooth comb…
Both my MRI scans show compression of my IJV’s. MRI isn’t the best for visualising bone but then I remembered the CT sinus scan from private ENT and requested those images. Lo and behold, the distance between my C1 transverse process and styloid on the left is 3.5mm and 5.9mm on the right. I’ll do another post after this with some images from my scans.
If I take sumitriptan as prescribed for ‘migraine’, it causes cerebral arterial vasoconstriction - my right IJV becomes prominent as this causes venous shunting, but my left IJV is never palpable.
If I lean forwards, clear fluid runs from my nose. Particularly when the headaches are worst, I have small amounts of wetness in my ears. I never mentioned this to the neurologist as at the time I lumped it with the ‘allergy’ symptoms which he made it clear he had zero interest in and considered entirely unrelated. There is fluid in the right mastoid process on my second MRI, and fluid levels in my paranasal sinuses with signal that’s the same intensity as CSF. As I left that appointment I remember noting the ear & nose fluid as it hadn’t been prominent for a few days before that.
My theory is that I have compression of my IJV’s between C1 and styloids bilaterally, worse on the left. I suspect there may be thrombosis of my sigmoid/transverse sinus on the left which may have recanalized to a degree. My external carotid and vertebral arteries on the left have tried to accommodate additional flow, with the vertebral dissecting and then recanalizing. I suspect the MRI appearances of hydrocephalus but without periventricular oedema is because I have CSF leaks partially compensating.
I have an appointment with Mr Hughes on 22nd April and really hoping this is the start of the end in terms of finding answers and hopefully a fix for this.
Will post again shortly but already my brain is feeling pickled. Appreciate any thoughts or advice people have - I have some specific questions about the upcoming appointment and about people’s experiences if they do also have known vascular complications but I’ll have to come back in a bit.
Thank you all for sharing your experiences and for being such troopers. At some point I’ll also share my thoughts re: patient experiences and the diagnostic journey/how medicine lets people down here. I was already aware of it from my medical school days after I researched the experiences of people with EDS but this process has really highlighted how intensely problematic the NHS system and clinician attitudes can be and one day I want to be able to influence that for the better.
to see him) & taking in the research paper & report you have from the doctor who co-authored the research paper would provide you with ammo for your case. You could also request that Mr. Hughes go over your scan(s) with you to validate why he doesn’t think you have a problem (that would allow you to know he’s actually looked at them).