Undiagnosed and rare conditions
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Still a medical mystery after being in chronic debilitating pain for 2 years

elenaciselenacis Member Posts: 4 Listener
Hi, I'm Elena, I'm 21, a neuroscientist and I've been living with chronic pain for 2 years. Well technically I've had scoliosis for 10+ years but the pain has been severe and disabling for 2.
When I was diagnosed with scoliosis at age 11, it was only 14 degrees, so only mild. I followed physiotherapy, did my exercises and at my last scoliosis-related appointment I measured 17 degrees then I was told it shouldn't grow after that as my spine was fully formed.
At 19, after getting the flu quite severely, my back pain started being consistent, with pain and numbness shooting down my right leg. It hasn't stopped since. 
I started the usual treatment of antidepressants and anticonvulsant and had whole spine MRIs and head MRIs and CTs to rule out things like brain tumours and MS.
Since COVID-19 started, my pain got worse. I lost the ability to walk without aid and the pain got so severe I am unable to rest and I am exhausted all the time.
I've been seen by a neurologist who diagnosed me with FND and sent me to therapy instead. I was seen by a rheumatologist who made me wait months for an MRI and told me I'm too young to be in this much pain and said it was all psychological.
As the wait for tests was so long, I did an MRI privately where they found that my scoliosis has progressed as an adult from 17 to 30 degrees in 2 years but besides that, no inflammation that was associated with the symptoms I had, Numbness in the sacral region along the sacral joint, numbness in leg, and a positive genetic test HLA-B27 for ankylosing spondylitis.
Since getting that news I have fought to get seen by someone more specialised and was finally seen by a leading orthoaedic specialist. He has ordered some retesting of my brain MRI but overall he is still not sure what is causing this much pain, as moderate scoliosis shouldn't cause severe pain.
I was left quite numb after the appointment as I was waiting for a cure- the pain and exhaustion is currently so bad my quality of life is very poor.

As I am waiting for my imaging results I would love to hear if any of you are experiencing these symptoms as I am a very complicated case. I am a neuroscientist specialising in chronic pain and I still don't understand what is wrong. I really want some advice on how you cope with this level of pain and exhaustion every day, and still juggle a life. I am currently a final year student and have a business on the side and am in need of pacing advice!

I hope you all have a pain-free day!

Replies

  • chiariedschiarieds Community Co-Production Group Posts: 8,018 Disability Gamechanger
    Hi @elenacis - & welcome to the community. I'm very pleased to 'meet' you, tho the circumstances are of course not great. I'm a physio (tho qualified many years ago now, & haven't worked as such for a long time!). My main interest was neurology, which stood me in good stead in trying to find out our family's genetic disorder.
    Back to yourself, as you have had physio in the past (which I hope you found helpful), do you remember the exercises you did, or could you ask to be referred again? Failing that, there are some videos online that you might find helpful (see below).
    Altho I don't have your set of, as yet not completely identified, problems, I do live with lower back (& intermittent sacro-iliac joint problems) on a daily basis. I find that exercise really does help; I'd be lost without it. As a physio I saw the benefit it could bring, &, as I've said on this forum before, for many years I've done the exercises I used to teach. :)
    To perhaps start off again gently, I'd recommend looking at this link here on Scope:
    A diaphragmatic/abdominal breathing exercise suggested by @chiarieds. This helps with stress and pain. 
    Gentle Tai Chi and yoga videos also suggested by @chiarieds.
    & also this 'How to meditate' guide from @leeCal can help you feel more at peace and relaxed.
    Then try the exercises you feel most comfortable with in these videos: https://www.nhs.uk/conditions/ankylosing-spondylitis/   & here:
    I know they're said to be exercises for Ankylosing Spondylitis (which in itself can be a painful condition), but they illustrate good back exercises taught by physios.
    It's undoubtedly hard to live with chronic pain as I know, & as do many of our members, but it's that balance of exercise can help, & looking at other modalities. Personally, not only do I use exercise, but relaxation techniques such as the 'diaphragmatic/abdominal breathing exercise' mentioned above, together with distraction & mindfulness. It seems to often be that a combination of modalities can help with chronic pain, but it's finding the combination that works for you, & we're all different.
    Pacing was the thing I found the hardest, as it was a skill I had to learn, & literally had to tell myself that I couldn't just push through everything I 'felt' needed to be done in any day, then crash at the end as I'd done too much (& subsequently paid for it), but I got there in the end. :)
    I have been through similar, yet different, experiences,......saw an orthopaedic consultant, geneticists, a neurologist, neurosurgeons, a neuroradiologist & rheumatologists.
    Hope some of the above may help, & please do let us know how you get on. Any way, do please keep in touch.
  • elenaciselenacis Member Posts: 4 Listener
    Thank you @chiarieds for the message! Since my diagnosis at 11 until I turned 19 I followed a good exercise regimen. I went to physiotherapy regularly, went to the chiropractor a couple of times and engaged in exercise (not the most intense as I also have breathing and had mild heart problems). When it got worse 2 years ago I started going to the chiropractor again but only did exercise at home in terms of yoga and followed the same scoliosis regime I had from years ago because I was an adult and when I turned 18 my scoliosis should have stayed stable so doctors never bothered to check the progression up until a few months ago.

    My condition progressed a lot this past year and most importantly since those neurological symptoms started 2 years ago- at the beginning it was maneagable pain before bed and some numbness in the leg, now I have severe low back pain 24/7 and can't walk without the use of a walking stick, I have numbness in my right leg, spasms and scored a positive Babinski which shows neurological issues. Because I was such a "hard to solve" case, I was moved between 4 specialists over the past year and 3 dropped me after the MRIs came back clear and because of the pandemic I couldn't go to physio or see my chiropractor. I tried to keep a small routine at home, nothing too strenuous but doing the routine now is absolute hell. I eventually saw a pain clinic that sent me to psychotherapy and referred myself to a physiotherapist for a review. The first physiotherapist didn't believe my scoliosis progression and told me that it's normal for an adult to have a 14 degree progression in 3 years and the second physiotherapist told me that because I don't have a clear diagnosis and I'm nowhere near to getting one and because I have reduced mobility and spasm and my pain is so high, they are too apprehensive to give me a treatment plan. I have done extensive research surrounding AS exercise plans and for moderate scoliosis but it is incredibly painful to do them. I still do stretches before bed and during high pain episodes.

    I only received the scoliosis progression a few months ago and because of the high progression as an adult, my doctor thinks there is something else that has caused my scoliosis and pain. 
  • chiariedschiarieds Community Co-Production Group Posts: 8,018 Disability Gamechanger
    I'm sorry @elenacis - I've been there. My very kind rheumatologist, who said he'd normally refer me to his hospital's neurologist & neurosurgeon (but I'd already seen them, who thought nothing was wrong) gave me a neurological exam; positive Babinski signs too, & concluded that as I had symptoms in all 4 limbs, together with abnormal reflexes he would not be normally able to elicit, that there had to be something wrong with my central nervous system. He was concerned as he felt my neuropathic pain was greater than my rheumatological pain.
    Re: scoliosis, it can be a feature of many disorders/syndromes, so definitely hope that looking into this further will shed some light. I hesitate to ask, but with your background, have you tried to research as to what your disorder might be? Personally I did this; worked out what my family likely had, then had to find specialists to confirm the diagnosis. It occurs to me, that from what you've said, researching scoliosis might then prove helpful.
    I'm sorry that the physios you've seen haven't felt able to help; it's difficult to do without a clear diagnosis. Do try & do a few gentle exercises just a little & often, & see if that helps, rather than just before bed, & when you're already in too much pain. Don't pursue them if they increase your pain, as that's counter-productive.....pain increases a vicious cycle of yet more pain.
  • elenaciselenacis Member Posts: 4 Listener
    @chiarieds if you don't mind me asking, do you have a full diagnosis? 
    Since I realised my condition was chronic, I started researching. Thankfully I just finished studying neuroscience and actually did my dissertation on chronic pain, so I used a lot of my academic time trying to figure out my condition. The issue with chronic neuropathic pain is that it can be caused by a multitude of conditions and their treatment plan is very different and the issue at the moment is access to those avenues because I don't have a diagnosis. Using my degree and knowledge has helped me when doctors dismissed my condition but after 2 years I am still at square one.

     At the beggining I thought it was fibromyalgia because of the generalised pain, then I was diagnosed with FND by a neurologist who didn't perform an assessment or send me to investigations so that diagnosis doesn't count, especially as I have been to therapy and still go currently for both mental health and chronic pain and still didn't help at all. Then after finding out I had the gene HLA-B27 for A.S. then I thought that was it as my pain was now more focused in the sacral region and the worse pain is before bed and in the morning (however I don't wake up during the night, it hits all at once in the morning) but a whole spine MRI showed no inflammation and my blood tests have always been in the normal range. Even if I would have a diagnosis for neuropathic pain, fibromylagia or CRPS, the treatments don't work on me as I have tried everything prescribed for those conditions. 
    Besides the usual treatment of exercise, therapy, antidepressants, anticonvulsants and antinflammatory, my doctors haven't tried anything. No injections or biologics, just because I don't have a formal diagnosis.

    My family on my dad's side always has a history of back pain, but from my knowledge my dad had a hernia because of heavy lifting, and overall no one in my family has an official diagnosis, or have any symptoms like I do or the intensity. 

    I am currently waiting for my head MRI results that can either diagnose me with M.S or show nothing. If it doesn't show anything, I am worried that my specialist will give up on me and send me to someone else and waste 6 more months until I see someone.
  • chiariedschiarieds Community Co-Production Group Posts: 8,018 Disability Gamechanger
    Hi @elenacis - I don't mind you asking at all. Whilst confirming my (& my family's) diagnosis of Ehlers-Danlos Syndrome (EDS) was comparatively easy, the harder part was about my neuropathic pain, which I was sure was due to Chiari 1 Malformation due to my youngest daughter's medical history. Not helped by the fact we'd lost her, so unfortunately several of our UK Drs were unwilling to discuss this further. Her Gt. Ormond St ENT surgeon later confirmed that she likely had Chiari 1 Malformation. My son & I had MRIs (later found out these should have been upright MRIs) which appeared inconclusive.
    By a bit of serendipity I got in touch with a New York neurosugeon....at the same time my research led me to believe that some with EDS might also have Chiari 1 Malformation, he was also finding some of his Chiari patients also had EDS....so we kept in touch. Fast forward to now, this association between EDS & Chiari 1 Malformation isn't acknowledged by many UK Drs, yet is considered as 'Complex Chiari ' by specialists in the USA. I attended a 'virtual' conference about Chiari 1 Malformation in the USA last year & much of it was about EDS.
    None of the Drs I've encountered here in the UK have had the temerity to say say it was all in my head (psychologically), yet it was, due to Chiari 1 Malformation.
    Much of the conventional treatment for pain hasn't worked for me either; I don't think your Dad's problems bear any relationship to yours, so not genetic. Don't despair, every result may give a clue as to what is going on. My best wishes.
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