Undiagnosed and rare conditions
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Searching for answers to a complex case + debilitating illness

kfaffkfaff Member Posts: 10 Listener
First, please let me apologise for such a long message. We are desperate to get to the bottom of what has been a horrific and long, debilitating illness, that has robbed my 34-year-old partner, Ben, of any life. I am aware this is a complex case that is still ongoing, and hope the following summary will at least help get you up to speed! If anyone makes it as far as reading to the end of this (or even part-way through) and it rings loads of bells, please let me know!

In October 2019, Ben, his brother and I came down with the nastiest flu-like illness we'd ever had, which lasted around three weeks. Ben had a fever and chesty cough, and was completely wiped out. Although his brother and I recovered, Ben instead went on to feel permanently extremely unwell and developed blurry unfocused vision, considerable photosensitivity and sinusitis. He had a permanent blocked nose, with it being particularly hard to breathe through the left side, and a new feeling of pressure and swelling – sometimes sharp pains/burning – in his head and the front of his face, including pain in his temples, behind the eyes and on the top of his head. He also suddenly had an extremely stiff neck, which nothing would relieve, as well as intermittent numbness and tingling down his left arm and hands, and at the back of his head and neck. He developed severe chronic fatigue, severe insomnia and disturbing nightmares. Added to this, he would get a sudden panic-inducing falling feeling, either when trying to sleep or waking him from sleep, as well as very bright lights behind his eyes (particularly the left eye) when he closed them, which would stop him falling asleep for hours.

Most scary of all were the new neurological symptoms he suddenly had, that were unlike anything he had experienced before. He felt permanently unstable and strange, and had a new, constant brain fog, with trouble remembering words and short-term memory loss. He would have periods of much greater intensity, sometimes lasting whole days. Since mid-October he had been basically house-bound, but many days he would be completely bed-ridden, and would find it so hard to balance that he had to hang on to furniture to walk around (as if he had been spiked with something), he would be on the brink of losing consciousness, and if he could walk then it would take minutes to walk the few metres from his bedroom to the bathroom. Throughout November, December and January, these episodes got more frequent and constant, to the point where he was having these debilitating symptoms round the clock and was unable to do anything but try and cope with the symptoms day and night. He frequently recorded his heart rate and blood pressure, and by the beginning of February these would vary hugely within fifteen minutes while doing nothing, sitting down.

Having had his usual olive skin with a holiday tan before the illness in October, afterwards he had a permanently pallid, sickly complexion, and intermittently went sheet white – this usually being accompanied by episodes of his neurological symptoms in greater intensity. He also lost a lot of weight and couldn't seem to put it back on, and got rashes spreading across his body and face. Having previously been a daily smoker of tobacco and hash, he suddenly found that he couldn't inhale any smoke without it bringing on a more intense bout of his neurological symptoms, and he immediately had to quit smoking altogether. Other strange symptoms that developed after the October illness included intermittent tremors, a sensation of fullness in his ears and difficulty equalising, a feeling and sound of pulsing in his left ear, occasional ringing in his ears and a crunching noise in his eyes (when moving his head but keeping his eyes forwards), as well as being constantly thirsty and very frequently needing to pee.

Prior to October, he was used to dealing with a lot of stress, but nothing prepared him for the new physical anxiety and panic that accompanied the onset of all these other new symptoms. For months he was trying to suppress multiple panic attacks a day/night, and was now finding it very hard to regulate his mood, which was swinging dramatically. 

Although he has worked hard to regain some physical fitness and strength over the past three months, and his balance in particular has improved a lot, he is still permanently unwell and has a few worse days a week (where he feels awful, his head feels strange, his vision is blurred/unfocused and he feels unsteady). Intermittently he will have much more severe episodes, where he needs to lie down, and his head and vision are really bad – sometimes so bad that he can't see clearly and he's on the brink of losing consciousness. He also still has a blockage in his sinus and sinusitis symptoms, and severe problems with insomnia and problems with his mood.

Between November and late March he has had (in chronological order): autonomic nervous system testing; an MRI brain scan without contrast; CT head scan; blood tests; an EEG; MRI scan of abdomen and pelvis; CT chest scan; an upright MRI of craniocervical junction and cervical spine; more blood tests; an ECG; an overnight sleep apnea monitor; a DEXA isotope bone scan; an eye examination; a nuclear medicine isotope bone scan; more blood tests and a urine test; a flexible nasopharyngoscopy; RAST allergy tests and IgE level; skin biopsies on an abnormal skin mark and abnormal lump; an MRI brain scan with contrast and serology tests. 

The only abnormalities found in his brain were a deep venous anomaly and his pituitary gland appearing slightly fall, with flattening of the superior margin – but these were deemed within normal limits.

He has been found to be hypermobile (EDS-HT) and have osteopenia, as well as 'possible active synovitis/inflammation' in several small joints of his hands, wrists and patellofemoral junctions. Blood tests found him to have slightly high homocysteine levels (14.1 – normal range being 0–12) and to test positive for anti-smooth muscle antibodies (1:80 – normal range being 1–1/40). 

He has mucosal thickening of the maxillary sinus and some disease of the ethmoid sinus, as well as left-sided nasal septum deviation and bilateral turbinate hypertrophy. The serology tests were looking for rodent-spread illnesses amongst others (due to a rat infestation in the house he was staying in, in Oct 2019, following years of problems with mice), and found that he had an abnormally high Aspergillus Niger IgG level (28.3mg/l – normal range being 0–24). 

Because of this last finding (in conjunction with the allergy tests being clear), fungal sinusitis is now suspected, and he has been taking 100mg Itraconazole twice a day for the last few weeks. He is also taking 10mg Escitalopram for anxiety, and Clonazepam and Circadin for insomnia, as well as a long list of supplements and vitamins. 

He still has crippling insomnia, chronic fatigue and if anything he feels more unwell since starting taking the Itraconazole, and is still waiting for the Covid situation to allow him to have the sinus biopsy that will hopefully identify if the fungal infection is in his sinus (and whether he should continue taking anti-fungals and have the infected tissue removed). 

Worst of all, a lot of his symptoms (e.g. his neurological and visual symptoms) are still not properly explained. His virologist and general doctor feels he may have had meningitis, but thought it would be a very severe bout to still be causing these problems. He is still due to have a lumbar puncture, a heavy metals toxicity test and gastrointestinal endoscopic biopsy (to rule out Whipple's disease) as soon as hospitals open up enough.

We just want to get to the bottom of the cause of his illness and symptoms, and make sure that he is getting the right treatment, so he and we can get past this. If anyone has any suggestions or thoughts, we would be hugely grateful to hear them.

Thanks and hope everyone's staying safe and coping OK out there!

Kat

Replies

  • chiariedschiarieds Member Posts: 7,968 Disability Gamechanger
    Hi @kfaff - Welcome to the community, Kat, & thank you for joining. I'm very sorry to read how Ben has been affected. Understandably you would like answers, but unfortunately we're not medically qualified, so unable to diagnose.
    You have written a very clear account of his problems, & the diagnostic tests so far, thank you. As someone who has the hypermobile type of Ehlers-Danlos Syndrome (hEDS), I would however like to say it's poorly understood by some Drs, & is far more than 'just' a rheumatological disorder. hEDS can affect most parts of the body, so is a multi-systemic disorder. Please see: https://www.rcgp.org.uk/eds
    There are neurological complications that can occur in a few with hEDS, including Chiari 1 Malformation (CM1), which has affected our family. Perhaps Ben's Drs had some understanding of this, as you have written that he'd had an upright MRI looking at the craniocervical junction, & a CT scan. Unfortunately some dratted radiologist, when MRI scans became available in the mid 1980s, decided that Chiari 1 Malformation was defined by 5mm of cerebellar tonsillar (i.e. lowest parts of the cerebellum) herniation below the level of the foramen magnum (the hole at the base of the skull through which the brain connects with the spinal cord). Sometimes this disorder isn't picked up by neuroradiologists, as you can have symptoms of CM1 with a lesser, or no herniation. Conversely some people with a far greater herniation may have no symptoms at all. I'm just mentioning CM1, as some Drs don't understand that there's an association between hEDS (as well as other heritable connective tissue disorders) & CM1. The pituitary gland can get flattened with CM1, tho this can also occur in other disorders!
    Perhaps his Drs were just looking for craniocervical instability, if so, then the tests he had would not be conclusive.
    Did his autonomic nerve testing show anything?
    Postural Orthostatic Tachycardia Syndrome (PoTS) is commonly found in hEDS. It doesn't sound like he's been evaluated for this.
    Mast Cell Activation Disorder is considered 'likely' associated with EDS, & also worth looking into.
    Sorry if I've given you more questions than answers, but please do look through the GP's tool kit link above, 'just in case.' His symptoms may have many & varied explanations, but worth looking at those known/thought to be associated with EDS first perhaps. :)


  • kfaffkfaff Member Posts: 10 Listener
    Thank you chiarieds, for your long and considered response! And sorry to hear that you've also had to deal with the assortment of problems that seem to be more common if you have hEDS! 

    Thanks for sharing that link. I have actually seen it before and really hope it gets read by more doctors, so it doesn't take so long for people to get diagnosed with something that is surely far more common than is realised.

    So sorry to hear your family has been affected by CM1. We were very scared about that, along with CCI and AAI. I hope you guys are coping OK? The report from his upright MRI said: 'There is a moderate degree of hindbrain herniation, where the cerebellar tonsils extend through the foramen magnum posterolaterally by approximately 12 mm, in a pattern characteristically seen in an individual suffering from one of the hypermobile syndromes or following whiplash type injury. The appearances are not those of a classical Chiari malformation, but are typical of the hindbrain herniation seen in patients with the hypermobile Ehlers-Danlos syndrome and which is sometimes erroneously confused with the Chiari malformation, which is a different condition.' This was done by Medserena in London, which as I understand it is the place to do these things, so hopefully they got that right!

    Weirdly, his ANS testing was relatively normal in Oct/Nov, although this was at the start of this saga and they're due to be repeated. When he had some lying then standing BP tests done with a rheumatologist at the beginning of Feb, the guy joked that Ben wouldn't need to have his repeat ANS testing done, because the results so clearly showed a big difference in BP! We are STILL yet to receive reports from that rheumatologist though, so I don't know whether he thinks Ben might have PoTS. He didn't mention it in the follow-up session.

    MCAD is something we've researched and thought about, but I'm not sure where we are with that... Not something any of his consultants seem to have ruled out or be too interested in following up, I think. Thanks for reminding me – I'll mention it in an appointment tomorrow.

    Not at all – I really appreciate all your very valuable thoughts and questions. It's also just nice to know someone there has experience with all this stuff! Have you got a few people in your family that have hEDS and CM1? And have you also had experience with mast cell activation?

    Cheers  :) 



  • chiariedschiarieds Member Posts: 7,968 Disability Gamechanger
    Hi @kfaff - Thank you for replying. By way of explanation, I'm a physio, & had researched the medical literature some time ago. I had needed to find out more as I thought it likely I had hEDS, but was mainly trying to find answers about our youngest daughter's problems, whom we'd sadly lost. Her neonatal Paediatrician had thought both she & our eldest daughter likely had a genetic disorder. In 1999, my eldest daughter wanted to know if she was at risk of having an affected child in the future, so I had to look into it, difficult tho that was.
    Our youngest daughter had stridor from birth, & had a tracheotomy at I week old. To cut a long story short, she was diagnosed with bilateral abductor vocal cord paralysis at Gt. Ormond St., but no cause for this was ever found. So, my research led me to believe she had likely had CM1.
    By a bit of serendipity, I emailed a Dr who was on a Chiari email group, not knowing he was a neurosurgeon, & the assistant director of what was to become the Chiari Institute, the world's first medical establishment for this disorder in NY. He said our family was likely affected by CM1 (as well as EDS), & that they were just beginning to find some of their Chiari patients had EDS. We kept in touch, & they wrote the first paper about this in 2007. See: https://pdfs.semanticscholar.org/b71c/c102e21a046fe1c9f767b8518465d85540db.pdf
    The chances of someone having both CM1 & EDS, a geneticist worked out, were over 3 million to 1, so there had to be an association, something I was asked to write about in an EDS booklet in 2012, proof read by the NY neurosurgeon, & with an introductory paragraph by the director of the Chiari Institute.
    So you can understand CM1 & EDS is something I know far more about than I would like, & it took me years trying to educate various Drs about this here in the UK.
    Not only the NY neurosurgeons I know, but other eminent USA neurosurgeons, say those with EDS & CM1 have 'Complex Chiari.' Certainly this is different to CM1 as it was typically known, & where the surgery of choice would be a posterior fossa decompression. The Chiari Institute had had cases referred where this op had failed patients; this was the beginning of those in whom it was realised they also had EDS. So I would beg to differ with Ben's neuroradiology report. Was there any mention of a retroflexed odontoid, or the term 'basilar invagination' could interchangeably have been used? Anyway, regardless of what has been reported, I would be looking at this as a likely explanation of his neurological symptoms, before pursuing other avenues. You might also look at tethered cord syndrome, which can be found in some of those with EDS & CM1. See: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887504/
    All 3 of my children have/had hEDS associated with CM1 (altho we haven't got a formal diagnosis of the latter); all 3 of my grandchildren have so far got a diagnosis of hEDS. I do have a diagnosis of dysautonomia. Between my son & I, we have had many of the symptoms Ben has, & we both have orthostatic intolerance, but haven't pursued a PoTS diagnosis...... there are only so many Drs you can see before you give up. This was all whilst I was trying to raise awareness of the EDS association with CM1. Same with MCAD, which I think is possible in both of us. My youngest daughter's Gt. Ormond St. ENT consultant agreed she likely had CM1.
    You seem to have done a lot of research yourselves, so hope some of the info & links above may help. Please do let us know how his appointment goes, & I promise not to send such a lengthy reply again! My best wishes. :)



  • kfaffkfaff Member Posts: 10 Listener
    Hi @chiarieds - thanks so much for your long reply. I was so saddened to read about your youngest daughter, and to imagine a fraction of the pain you must have endured during that time and afterwards. There's of course nothing harder than losing a child. I think it's fantastic that you are using all your hard-earned knowledge and determination to help the rest of us – people you'll never meet, but benefit so much from your knowledge and experience in this!

    Full disclosure, I also worry about what mine and my partner's future kids' health have in store for us. Aside from my partner's EDS, I have a lot of autism (my beloved younger bro is non-verbal) and other things like OCD running through my family, so we await with interest/trepidation to see what genetic cocktail we will concoct! I hope your children and grandchildren are managing to have a reasonably good quality of life with their hEDS, but I assume that they have varying levels/types of difficulties?

    Anyway, as much as I wouldn't like it to be the case that Chiari plays any part in our particular current mess, after reading your message, I have to concede that I don't know enough about it, and unfortunately probably shouldn't write it off, just because Medserena have. Thank you very much for sharing that paper – I have previously read about the link between EDS and Chiari, but not that paper, and will look at it. Re basilar invagination, the report says: 'At the craniocervical junction, there is no evidence of basilar invagination.The tip of the odontoid peg lies at the level of Chamberlain's line... [at the report's conclusion:] There is no evidence of basilar invagination. The appearances of the brainstem are within normal limits.'

    One of the letters we were waiting for have just come in, and this doctor says Ben does have the signs of orthostatic intolerance... Not that this is really news to us, although this symptom seems to hugely vary at different points. The appointment that we had with a new doc was just very introductory, so we are still just waiting to see what comes next (especially with Covid prohibitions in place). He has been sleeping a bit better the last few nights, and feeling a bit better from it, which is good.

    Thanks so much for sharing some of your story with me – and please don't apologise for the lengthy reply! I find short replies impossible  :D Would love to keep in touch. Stay well x

  • emmarenshawemmarenshaw Member Posts: 712 Pioneering
    Hello @kfaff a warm welcome to the community.  I’m Emma, I’m so sorry to hear about your difficulties. It must be so tough for you all. I know it’s hard not to have any definitive answers but please know we are here to support you if you need us.
  • kfaffkfaff Member Posts: 10 Listener
    Hi @emmarenshaw and sorry for such an overdue response. I really appreciate your words and feel your support. I hope you are also managing OK at the moment through whatever struggle it is that has brought you here? All the very best, and hugs to you.

    @chiarieds I hope you are doing OK too since we last spoke? I actually came back on here to ask for your advice, because Ben has had a real setback over the last couple of weeks. He's had added life stresses including more family illness, which can't be helping, but his neck is also clearly much stiffer again on the right hand side. This never really went away over these months since October, when it got really bad, but all his diligent physio routines and rehabilitative programme had been helping his general symptoms. However, for the past couple of weeks, along with the stiff neck, he has been experiencing a relapse in his neurological symptoms (some affected vision, nerve pain and sensations in his face/neck, mood and sleep badly affected). I realise some of this can be stress-related, but some seems clearly linked to the stiff neck.

    He has spoken to his rheumatologist, who does not have anything new to say on this. My thoughts have gone back to what you said, regarding Chiari. I am wondering if Ben needs a second opinion from a craniocervical expert. My question for you was: do you know anyone who would fit the bill, who we could speak to? It wouldn't even necessarily need to be in the UK, since he has had lots of relevant scans done already (although money is very tight, so that is a factor when it comes to expensive US doctors!). I just wondered if you had had any experience of really trustworthy and expert consultants?

    SO grateful for any response you're able to give me on this, and all the best, Kat x
  • kfaffkfaff Member Posts: 10 Listener
    P.S. I should note that a general doctor and virologist are now working on the general assumption that he may have had viral meningitis, but this can't be approved, so is obviously just a working hypothesis.
  • kfaffkfaff Member Posts: 10 Listener
  • emmarenshawemmarenshaw Member Posts: 712 Pioneering
    Hello @kfaff no worries at all.  I’m fine thank you. I hope you and your partner are alright. Please let me know if you need anything, I can always tag a member of the Scope team if you need any further support.
  • chiariedschiarieds Member Posts: 7,968 Disability Gamechanger
    edited June 2020
    Hi @kfaff - It's good to hear from you, but I'm sorry Ben has been worse recently. As you intimate, stress can make things worse; it certainly exacerbates my pain.
    I've been looking into who may be able to help. A neurosurgeon whom my son & I met was my initial thought as he was open to the fact that EDS & CM1 could co-exist, & was receptive to emails both before, & after we saw him. On checking I found he retired last year. Another thought was another neurosurgeon with whom he had co-authored a paper on EDS & Complex Chiari! I knew that the now-retired neurosurgeon had met the NY neurosurgeon I first met online, so hopefully something might have rubbed off about Complex CM1.
    Anyway, this 2nd neurosurgeon is based at the Walton Centre, Liverpool, & they have monthly clinics which also mention 'Complex Chiari,' so this sounds promising. The 2nd named neurosurgeon would be the one to contact. He's also doing a survey on patients with EDS who have had surgery abroad for CM1 or other problems.
    I have also heard good things about the Walton Centre from others here on Scope.
    Whilst I obviously can't diagnose, I feel Ben's neuroradiology report is somewhat dismissive. The hindbrain herniation being said typical of someone with hEDS doesn't undo the fact that this exists. In fact neuroradiologists interchangeably use terms like hindbrain herniation, cerebellar ptosis, tonsillar ectopia to all mean the same thing, i.e. CM1.
    I will look into things further as I haven't looked at the research in this field as much recently (as I've been busy on Scope!) I will get back to you whether I find out more or not. 
    I just had a text from my eldest daughter asking if I could speak to her daughters' cardiologist. He was wanting to know about EDS, which I had to spell for him. He wanted to know why my granddaughters get echocardiograms. He was very nice indeed, & invited me to join in with a consultation by phone which he'll arrange after contacting the team that diagnosed them. Thank goodness for good Drs, as he agreed there was a reason for them to continue to need echocardiograms (& CM1 can be discussed in the phone consultation too).  :)


  • kfaffkfaff Member Posts: 10 Listener
    Hi @chiarieds and thank you so much for putting time and thought into answering my question. I really can't tell you how much it is appreciated!

    I will contact the Walton Centre today. That sounds like a great place and a great lead – thanks. I was also reading up a bit more last night, and came across a study which mentioned that the SHAPE of the tonsils when there is hindbrain herniation in EDS tends to be different from the Chiari syndromes: https://syringomyelia-chiari2018.org/f24.html#:~:text=In the patients suffering from,and are pointed in shape

    I was very interested to hear what you thought about this, and whether you were familiar with this study?

    Incredible (or not so incredible) that you had to spell out the issues with EDS to a cardiologist! Not that it is his fault at all – it seems it just needs to be taught and recognised far more. Great that he was so proactive and eager for your support. Do the granddaughters that get ECGs have hEDS? Do they have PoTS? 

    A clinic letter from a second rheumatologist Ben saw in Feb and March fiiiinally came through recently, and it determined that he showed significant postural induced orthostatic tachycardia. He also said there is no doubt Ben has RMD clinical features that suggest the presence of possibly chronic autoimmune inflammatory arthritis and a hypermobile connective tissue disorder. In a second letter (based on evidence from a nuclear medicine bone scan) this rheumatologist has written that he has inflammatory RMD – early rheumatoid arthritis despite the fact that his autoantibody profile is negative. 

    Although Ben's normal rheumatologist disputes this conclusion, the second rheumatologist goes on to conclude: 'Given the presence of inflammatory RMD features and the presence of homocysteinemia, he fails to fulfil the 2017 diagnostic criteria for the diagnosis of hypermobile EDS. Homocysteinemia can contribute to hypermobility and may be associated with thromboembolic disorders and osteopenia.' Ben's normal rheumatologist, though, says Ben is hypermobile, and has hEDS!

    Anyway, hope things are going well for you and thanks again for your work here on Scope. Thanks also, @emmarenshaw

  • kfaffkfaff Member Posts: 10 Listener
    Hi @chiarieds and @emmarenshaw – I have just got off the phone with The Walton Centre and am going to sort out a referral for there straight away. Thank you so much for the recommendation. I will mention Mr A Brodbelt, as recommended. If there are any other consultants people on this forum recommend at The Walton Centre, it would be great to know. Perhaps I should search for 'The Walton Centre' on Scope?  Thanks xx
  • emmarenshawemmarenshaw Member Posts: 712 Pioneering
    @kfaff I hope it goes well. I did try looking on Scope but it didn’t come up with anything but a Google search did. 

    Thanks @chiarieds
  • chiariedschiarieds Member Posts: 7,968 Disability Gamechanger
    Hi @kfaff - I'm so pleased the Walton Centre are helpful. I was searching much of yesterday, & part of today, & do think A.B. still seems to be the best (that I can find).
    It was through the Ann Conroy Trust that I became aware of the recently retired neurosurgeon G.F., whom my son & I met at Q.E. Hospital, Birmingham. He's Acting Chair of the Trust. If you look at the programme for the 2018 Syringomyelia-Chiari International Symposium, you will see under G.F.'s introduction, there was one by P.B., the NY neurosurgeon who has helped me. On the Wed, P.B. gave a talk on 'The long-term outcome from occipito-cervical fusion for Ehlers-Danlos hypermobility.' A.B. from the Walton had given one the previous day, & that together with the fact that he was involved in 2016 with the Chiari group defining Common Data Elements to further research worldwide, makes me feel he will be knowledgeable. This included P.B. & G.F. too. The only other person from the UK was R.G., a rheumatologist, & incidentally the first UK specialist I asked if there was a link between EDS & CM1. He was sure there wasn't!
    P.B. had offered to advise G.F. about our son (we had both been referred, but there was some muddle, & G.F. said he only had a referral for our son), but he didn't answer him. Eventually G.F. met P.B., which was good to know.
    The trouble with seeing specialists is that they know an awful lot about their own field. I wish that you could get neurologists, neurosurgeons, geneticists, rheumatologists, allergists, etc. all in one room! The best place I've found where this 'virtually' happens is here: https://bobbyjonescsf.org/    & here: https://asap.org/
    They both have videos of past conferences; some for patients; others more for Drs., but they are a great source of info.
    @pollyanna1052 has been to the Walton Centre, so may be able to tell you more from her perspective. Thank you Polls if you could say how you found it, thank you. Do keep in touch Kat. :)





  • kfaffkfaff Member Posts: 10 Listener
    Hi @chiarieds sorry about the late reply, and thanks so much for the extra info, and all your diligent and generous research. It is extremely kind.

    Sounds like Mr A.B. is the way to go, if possible. We are just sorting out the referral, and trying to chase Ben's doctor to sort it out ASAP! I would love to know how long the waiting list is going to be for Ben to get seen, and would be grateful to @pollyanna1052 or anyone else on here if they have any idea. The person on the phone at The Walton Centre said they weren't able to give me an approximate time, but I think that's because I wasn't the patient and the referral hadn't gone through yet. Hopefully once the referral goes through they might be able to give us a ballpark. Our fear is that it will be months, especially in the post-Covid period.

    'The trouble with seeing specialists is that they know an awful lot about their own field. I wish that you could get neurologists, neurosurgeons, geneticists, rheumatologists, allergists, etc. all in one room!' – couldn't count how many times we've said the same thing! I will check out those links you shared though, they sound very interesting.

    Have you had a chance to check out/had you already seen this? https://syringomyelia-chiari2018.org/f24.html#:~:text=In the patients suffering from,and are pointed in shape I'd love to hear your thoughts on this, given your long and involved history with understanding EDS and chiari. It was interesting to me to read the finding that hypermobile EDS patients often have the hindbrain herniation, but the shape and position is deemed different from that which 'qualifies' you as having chiari malformation. I assume this is what they were getting at in Ben's neuroradiology report, but it must take a real expert to determine this, and I would love a second opinion.

    I will definitely stay in touch, and would love to hear from you and how you're doing too! X
  • kfaffkfaff Member Posts: 10 Listener
    Also, @chiarieds would love to hear if you have heard anything about stem cell therapy for CCI and AAI? I have just spoken with a secretary for Dr Gilete in Spain (seemingly neurosurgeon extraordinaire when it comes to assessing cervical instability) and they mentioned that that is one non-surgical option.

    I read her out the conclusions from the neuroradiology report and she said that providing the tonsils don’t block off CSF, and don’t compress the back of the skull, Chiari would no longer be diagnosed, and in their experience this doesn't cause symptoms. But, she thought because of Ben's symptomatology, CCI and AAI might have gone incorrectly undiagnosed, and it would be worth Dr Gilete looking over his case and doing an evaluation (for 550/650 euros!) to see what he thinks. She also said that they find a lot of their patients start getting symptoms associated with instability after an infection, e.g. Lyme's, meningitis, which would certainly fit with Ben's timeline. If they recommend surgery, that costs over 60,000 euros though in Spain. I have no idea what the options are on the NHS here – it doesn't really bear thinking about.

    All v best  :)
  • chiariedschiarieds Member Posts: 7,968 Disability Gamechanger
    edited August 2020
    Hi @kfaff - I just thought I'd share with you some links from the 'virtual' conference I attended recently. The first is from Dr. B. Please see:
    About Mast Cell Dysfunction :
    Other links, where EDS was much discussed: https://www.youtube.com/c/ChiariSyringomyeliaASAPorg/videos  these are the only available videos so far.
    I'm sorry, I missed your last message about stem cell therapy. I'm a little skeptical as, if Ben has EDS, & defective collagen, I'm unsure how this may work. However, I haven't looked into this, & will do so.
    There's been a problem as to how CM1 is diagnosed for quite some time. A neuroradiologist 'decided' when MRIs were in their infancy, that you had to have a 5mm herniation of the cerebellar tonsils below the level of the foramen magnum for CM1 to be diagnosed. CM1 was also thought until comparitively recently to be only due to a small posterior fossa (the back of the skull not developing properly, which happens in many disorders which would usually be picked up upon shortly after birth.). Problems can occur because the hindbrain can be compressed causing significant problems, instabilty being sometimes an issue, in the absence of the cerebellar tonsils blocking CSF flow. With EDS in the mix, this is considered 'Complex Chiari.'
    The conference was mainly with input from neurosurgeons, a couple of neurologists, & geneticists as CM1 & associated co-morbidities such as EDS is what they willingly say they're learning about, & they know so much more than 10, or even 5 years ago.
    Whilst any infection might worsen a person's problems, I'm unsure that this would affect instability of the cranio-cervical junction. I doubt Ben has had meningitis, etc. However, I am willing to stand corrected. This wasn't the wisdom imparted at the USA's recent conference, but it was just the USA's specialists views, whom I've found a decade ahead of ours.
    Are you any further forward in hearing from the Walton Centre? My best wishes to you Kat & Ben. :)


  • Francis_theythemFrancis_theythem Member Posts: 120 Pioneering
    ME also co-occurs with hEDS, it is very common especially where there is presence of both EDS and PoTS. Also, the pattern of illness is that it is triggered directly after an illness. It also involves orthostatic intolerance. Potsuk and Dr Sanjay Gupta's youtube channel will give you lots of info about PoTS, and lifestyle changes you can make to manage symptoms. Particularly Dr Gupta's channel is one of the best resources about PoTS so I really hope you find that useful. Fighting Fatigue by Dr Sue Pemberton is a brilliant guide to managing chronic fatigue so I highly recommend that if you are in need of fatigue management. I don't know how links work on this forum so I don't want to break any house rules :3. ME Association has information regarding ME. The pattern you describe reminds me of ME which is hard to get recognised unless you're looking for it, so I'd recommend researching it and seeing if you feel it fits.
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