Hello from someone in desperation…

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  • #125743
    Hello from someone in desperation…

    Hello,

    My name is Tori and I am 33 years old. I hope very much that no one minds me asking questions on the forum because I have found myself in a completely desperate place and feel very much written off by the medical profession. I am hoping to find out if I should try and push for answers or accept that what I have has no explanation. I am also curious to find out if anyone has had similar experiences before finally getting a diagnosis that makes sense. Thank you so much in advance to any of you who read to the end, I apologise for its length but the last couple of years have been complicated.

    I will explain a little of my medical history to give context to my current position.

    I have had peculiar medical issues for most of my life but a few years ago my seemingly confusing medical history was clarified quite a lot by being diagnosed with a genetic connective tissue disorder called Ehlers-Danlos syndrome (EDS). The symptoms of this had suddenly become much worse and I began to have injuries from doing most minor daily tasks, it turned out that the hormone Progesterone can exacerbate loose connective tissue and cause the symptoms to be amplified. In some ways I was glad that this happened because it led to diagnosis, I had previously been reluctantly diagnosed with chronic fatigue syndrome because no one could come up with a better answer. A couple of years later I was referred to a Dr whos area of specialism is “care for the elderly” where I had tests that found I had Postural Orthostatic tachycardia syndrome, this is very common as a secondary condition to EDS. I realise that having these two conditions makes it very difficult for Drs to pull apart what is causing what symptom but I will explain the reason I have come specifically to this forum.

    Three years ago I suddenly developed an odd sensation in one of my feet. I could only describe it as feeling as if my body had forgotten how to walk. My foot would slap the ground harder than usual and feel awkward. To begin with I dismissed this, as I do most new symptoms because of the amount of times I’ve had Drs shrug at me and say “I don’t know”, I am also extremely paranoid at being considered a hypochondriac and being dismissed by going to the Dr for every strange and new symptom. I’d began to feel that EDS could and would explain everything I was experiencing so continued as usual with life.

    The sensation came and went (another reason I decided not to go to the Drs as symptoms that come and go never seem to be taken seriously) for several months but then began to get more troublesome and seemed to affect my entire leg. I started to lose my balance, began falling over on buses and had to start using a walking stick to keep myself balanced and to have support for the weakness that was spreading to my legs. At this point I got worried and saw my GP who decided to put me on Amitriptyline because my sleep was being disturbed by the strange sensations (crawling and pins and needles type feeling) in my legs and took the usual panel of bloods for anaemia, thyroid etc. The bloods came back all clear so my GP stopped there.

    I was also seeing a Rheumatology specialist physiotherapist at this point for help with the joint issues associated with EDS and was able to demonstrate to her on several occasions the weakness in my legs which was also beginning to affect my arms. She was particularly concerned by my presentation and said she was unhappy to progress with the physiotherapy while I had not been tested for any other underlying conditions. She said the type of weakness I was presenting with did not fit with EDS and was more characteristic of MS or Lymes disease and expressed surprise that I hadn’t been tested for anything like that already. She then discharged me, but couldn’t put the true reason in her discharge letter or make any recommendations for tests, because she was a physiotherapist and some Drs get really angry at someone in her position making suggestions to them. So I go back to my Dr who does nothing else but increases my dose of Amytriptyline and quizzes me about my anxiety levels (which were fine!).

    Shift forward a few months and I get reviewed by the Care for the Elderly Dr who also sees patients with CFS/ME and EDS as well, and I decided to be completely open with him. I told him my symptoms, at this point my husband had persuaded me that we needed a wheelchair for emergency use as I was becoming unable to go on day trips (an aside and long story but I had been refused a Blue Badge because the assessor from dependability lied on my assessment form which had forced my hand on that decision). I was ashamed and embarrassed for needing a wheelchair when I didn’t have a diagnosis that should warrant that kind of support but I felt to get any answers I needed to be completely honest with this Dr. I also explained to him why I had been discharged from Physiotherapy. At the appointment he said he would referrer me to his hospital clinic for a Tilt Table Test (for POTS) and a full neurological work up. I felt hope!!

    The hope didn’t last for that long when I received a copy of the letter he sent to my GP which stated “the young lady is worrying about MS and Lymes disease which patients with these symptoms often do”. Already I felt that what I had explained had been completely belittled. I did however go on to have a strong positive result for POTS a couple of months later.

    In the time I was waiting for the neurological work up, things became decidedly worse, the weakness was beginning to affect both legs quite regularly and on one particular occasion I ignored the symptoms and pushed through to continue with plans (I work part time and try and maintain a reasonable social life), however by pushing through, the weakness just became worse and worse to the point I was unable to walk without my husband heavily holding me up on one side and my stick holding up the other and by day 3 I was pretty much paralysed from the waist down, unable to stand up using my legs or walk. My husband insisted on taking me to the hospital at this point.

    I was admitted to the hospital because the Drs were finding it difficult to get my reflexes to respond although when they did the sensory test I could still feel everything, there was a change in sensation but no actual numbness. I was given a full brain and Spine MRI which came back all clear. I was seen by a neurologist who asked me a lot of questions and wrote down a series of tests he wanted to carry out in his clinic as outpatient appointments and once I’d been given crutches and instructions on how to use them by the physiotherapy team I was sent home (gladly I will add).

    The outpatient appointments didn’t came through for a month after I had been to the hospital and after three weeks of using the crutches and resting a lot, the weakness had started to go away again and I was able to go down to one crutch and walk with reasonable ease by the time I saw the neurologist again. Because I was walking, the neurologist refused to carry out a single test that he’d written down in the hospital and told me that it was a random episode with no explanation that was no more likely to happen in the future. When I explained the walking and weakness issues I’d had for two years leading up to that he dismissed that completely and said “you don’t want to be seeing me”. I had to agree, I absolutely did not want to be seeing him, or any other Dr for that matter, I would much rather be walking like a regular person! So I was discharged from Neurology with no further tests of follow up, my worst fear had actually come true and I was absolutely not listened to.

    I hoped this Dr was correct and that perhaps it would all miraculously disappear if I wanted that hard enough. This was July last year and since then I have developed problems breathing, swallowing and the weakness continues to happen although I have discovered that if I use the crutches at the first signal of a ‘flare’ (I have no idea what else to call it) and rest my muscles, it stops it from progressing to the level it did last year (that confuses the hell out of me).

    The care for the elderly clinic decided to send me for an EMG and Nerve conduction test, regardless of me being discharged from Neurology. I hoped like hell that this would show up something helpful. The test itself was fine, although when one of the needles was inserted into the weaker of my two legs, my muscle started to go into cramp almost immediately and after the test I could not put and pressure on that leg for about 4 hours because it would instantly go into cramp (this was visible in the muscle). I have since been told that this simply does not happen after or during these tests. My results came back with no neuropathy or motor issues but the Dr who carried out the test noted hyper-irritability in the muscles.

    I had my follow up appointment today where I was told that the spasm simply does not happen after this test, there is categorically no underlying neurological conditions or anything else going on (despite the fact I have had absolutely no tests other than the MRI and EMG), the swallowing is likely due to dry mouth so I’m being swapped from Amitriptyline to Gabapentin or pregabalin, my breathing issues were not addressed at all other than being told that my now constant blue fingernails were not due to breathing problems and the weakness is a complete mystery so I should accept that with no underlying disease it could just go away on it’s own.

    The reason I am here is out of sheer frustration, I know that an MRI and EMG cannot entirely rule out every single condition that can cause muscle weakness. I am very aware that I couldn’t possibly have something like true Muscular Dystrophy or ALS as I wouldn’t have periods of improvement and I would be completely incapacitated after 3 years. What I have discovered very recently however is that Myasthenia Gravis can present with these type of symptoms and can fluctuate. It was during my research into Myasthenia Gravis (not something that I had looked at previously, I have rarely done research into conditions without suggestion by a Dr as again, I do not want to be labelled as someone who is searching for something to be wrong or putting ideas in my own head etc) that I was signposted to this website and felt it couldn’t hurt to tell my story and see if I am completely barking up the wrong tree or if I have good reason to suspect this as a possibility. Some of the other symptoms I have (which I hadn’t even actively realised I had) is my voice becoming horse if I talk for long periods. I have always sang but in the last year I have almost completely stopped as my voice feels strained and loses strength when I am singing and I become horse very easily, I had attributed it to allergy/sinus problems, I get blurred vision regularly where my glasses can’t correct it (when I am tired) and I have been struggling to chew anything ‘chewy’ if that makes sense.. my jaw becomes weak and fatigued very quickly. At valentines I cooked steak, it was very tender but still took me an hour to eat. I have also read that hyper-irritability in muscles can be something that shows up on EMG/NCT with MG?

    I am finding it really hard to put the pieces together and I don’t expect anyone to give me a diagnosis, I just want to know if my experience is completely different to anyone with Myasthenia Gravis or if I am completely off with my reasoning and research and that I am silly for even considering, or that the tests I’ve had would indeed rule it out.

    Thank you so much if you made it this far!

    ToriGower
    Participant
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    Joined: 17/03/2016
    #125763
    Reply To: Hello from someone in desperation…

    Oh my! You are being put through the ringer. Oh how I would love to be able to say “Ask about this … it sounds like this …” but I cannot and also there are plenty of us who have been going round and round the hospital departments looking at all these white coated educated degree holders scratching their heads [and other bits] because they do not understand what is going on, as you have been. It is maddening, demoralising, and just plain wrong.

    I hate hate hate having to list down my failings, symptoms and what I cannot do or need help doing, it just highlights everything I fight against every day .. we have all gone through, are going through, will continue to go through it …. you are so not alone in that.

    May I suggest writing down, as brutally honest as you truly can, all your symptoms and the movement restrictions, etc and go back to your GP and as I have to do with mine “Get all Bolshevik”, I become a stubborn, assertive, mouthy madam, I push and push and insist on answers that I understand and explanations I want. [Well I did, but I have reached a stage where no one can help, but I have most of my answers].

    I am sure you have found our MG factsheet MG FactSheet

    Something is certainly going on …. it is as if you need a new set of eyes and to start from the beginning to get somewhere.

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #125840
    Reply To: Hello from someone in desperation…

    Thanks so much!

    Just knowing I’m not alone going around in circles gives me a little comfort, although I wish we were all able to get swifter answers!

    Because I am on a certain medication for nerve pain which causes lots of side effects, my consultant wants to switch me to Pregabalin which is ‘medically cleaner’. I’ve had a long think about it and will discuss with my GP, but I’m going to try and go med free for a while if I can. Nothing can be medically cleaner than that ;-). The reasoning being that if my swallowing and breathing symptoms stay the same,then I have a better case to argue if there’s nothing they can accuse of causing the symptoms. I did however have weakness and nerve pain/fizzing and tingling way before I was given any meds in the first place. I am prepared to accept that the swallowing may be caused by it though so we’ll see!

    Thanks so much for responding.I really wasn’t sure anyone would read it! :-) xx

    ToriGower
    Participant
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    Joined: 17/03/2016
    #125841
    Reply To: Hello from someone in desperation…

    Have you ever had a SALT assessment (Speech and Language Team)? Among other things they observe you eating and drinking and record things like how many swallows it takes to clear liquid or food from your throat. Would your GP make you a referral?

    I can understand your frustration, you become an expert and detective in yourself!

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Moderator
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    Joined: 05/03/2015
    #125922
    Reply To: Hello from someone in desperation…

    just wanted to let you know I’ve had the same thing for ten years.have been sent to Newcastle genetic clinic by my despairing neurologist. they were great and told me that I need more tests (hundreds of genetic tests available!) and that’s it’s not m.e. because my ck is high. my symptoms fluctuate (sometimes use a stick but not always). only tangible abnormal test result in me is raised ck. everyone is now in agreement that one day it’ll be labelled as a type of m.d. can fluctuate dependent on tiredness, exercise, breathing… etc. Amitryptiline is good but makes us exhausted which clouds the situation! I too am working part time. I told I’m anxious by my g.p. sound familiar? but- at least the Drs at the top believe me! you are clearly suffering and need a referral elsewhere. I’ve had myasthenia graves rumoured about me but it’s always rejected as a possibility I’m not sure why. stay on the forum and chat to us as much as you like- it’s nice for us all to feel we are not alone!

    pippa
    Participant
    Posts: 126
    Joined: 02/01/2012
    #125924
    Reply To: Hello from someone in desperation…

    Here another example of what I’ve started to call Rumpel-Stiltskin disease (like the fairy tale: “nobody knows, nobody knows Rumpelstiltskin is my name”).

    My complaints are somewhat different to yours, and I have a partial diagnosis of ‘mild myopathy’ but I know your desperation. And I know what you mean about trying not to be labeled a hypochondriac or a head case.

    But please remember you are the ONLY one who knows what’s happening to you! Like AMG said: push! Stand up for yourself, find all the information you can and try all the routes you can think of to get to a good dr.

    Best of luck
    genista

    genista
    Participant
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    #126014
    Reply To: Hello from someone in desperation…

    Hi there,
    Kinda similar situation here. Raised ck but no one took it seriously till I saw a dr at genetics two weeks ago and the only reason I saw her was because I pushed for the appointment.
    I don’t think she’s convinced by the fibromyalgia diagnosis. I was diagnosed with HMS but not EDS.

    Like others are saying keep pushing, I know it’s hard, I hate being pushy. And I also feel like a hypochondriac as well!
    All the best
    X x x x

    helenapink1
    Participant
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    Joined: 17/03/2016
    #126153
    Reply To: Hello from someone in desperation…

    Thank you all so much for your replies!!

    @sar78 – I haven’t been assessed but amusingly actually have a friend who works in that area so has offered to help. As this consultant has decided Amitriptyline is the cause of the swallowing issues then my GP wouldn’t be likely to take any notice of it until I’m off the drug. Currently down to 20mg with no change (although still hoping if I spend a while completely drug free)

    @pippa can I ask what CK is? I’m sure that’s something obvious that I should know but can’t figure it out ;-). Sounds very familiar. It drives me crazy that you can’t really win with the ‘anxiety’ label. If you seem fine and articulate about your problem then they don’t think it’s bad enough, if you reach the point of tears through frustration then it’s anxiety!!

    It’s lovely to read comments and know I’m not completely on my own xxx

    ToriGower
    Participant
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    #126158
    Reply To: Hello from someone in desperation…

    Just to briefly answer your question
    Creatine Kinase (CK) is the new name of creatine phosphokinase (CPK). CK is an enzyme, a protein necessary for muscle cells of the body to achieve their different chemical reactions. Normally, levels in the blood are low and an increase of its levels indicate a muscular disorder.

    helenapink1
    Participant
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    #126211
    Reply To: Hello from someone in desperation…

    Thanks!

    I’ve been running through conversations over and over in my head that I want to have with my GP but there’s just so much and my GP is a clock watcher (literally) so I feel it’s all pointless. I will however ask if I’ve had a blood test to check my CK levels (pretty sure I haven’t) that may be somewhere to start once I’ve come off all my medications (to prove a point).

    There are so so many rare (and not so rare) conditions which follow a similar pattern to what I’m experiencing that I just don’t understand how any consultant can turn around and declare ‘there is no explanation for what you are experiencing!’

    Xxx

    ToriGower
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    #126385
    Reply To: Hello from someone in desperation…

    There are so so many rare (and not so rare) conditions which follow a similar pattern to what I’m experiencing that I just don’t understand how any consultant can turn around and declare ‘there is no explanation for what you are experiencing!’

    Xxx

    Www I could think of some cutting sarcastic replies to that! I’ve been known to make a few at various medicos across the years :lol:

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #126734
    Reply To: Hello from someone in desperation…

    unfortunately i cant add anything to what has been said already. i am the secretary of the Cornwall branch of MDUK and give people help and advise on a regular basis about theses sort of things. i have emery driefuss muscular dystrophy and i walk with a stick. i have bad balance. i have some days when i use a wheelchair/mobility scooter and i have some days when i can walk around all day. i have a 3 year old son with the same condition and as yet it doesn’t affect him. from past experience with doctors all i can say is that although they cant be expected to know everything we all hope that they would try. although it is tedious i have recently started righting a diary of my symptoms. some days im writing in it every half an hour. some days i only write a couple of things in. it just helps me in my mind work out whats going on as sometimes you just seem to get used to it.

    i know this probably isn’t much help. i realy hope that your situation gets resolved swiftly. the same goes to any won else out their in this situation.

    all the best.

    waynelenson
    Participant
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    #126783
    Reply To: Hello from someone in desperation…

    Thank you @amgmod that made me chuckle!!

    Thank you also @waynelenson it’s just useful to hear other people’s experiences and sad that so often we have to fight so hard! I do keep a symptom diary, have tried it on and off without much success but the last month realised I needed to put in the effort. I’m trying to record sleep, food, drink, med and activity levels as well as symptoms to see if I can spot any triggers. GP was pleased I’m doing it. Bought myself a nice A5 notebook and am using one page oer day so I keep it brief (may be noticeable that I’m not good at ‘brief :lol: )

    I !just say, I had my GP appointment on Monday and was blown away (in a good way :D ) as I relayed my recent experiences, managed to tell him everything succinctly (that in itself was a small miracle but helped I had my hubby with me ) he even said that I’d presented everything really well. Because I hasn’t gone to see him with the muscle weakness development because I didn’t feel he could do much, I think he was concerned at the level ID reached. He said he was completely on my side and wanted to get a second opinion and wanted to see me more regularly until we get things more under control.

    I’m being sent to Rheumatology for their opinion because he said the muscle weakness alongside some of the other things (I could present him with photo’s of my purple fingernails and blue toes) were real signposts to Rheumatalogical conditions and feels they may be better placed to help me.

    Do you all see Rheumy,neuro or both? Out of curiosity

    I’m just so monumentally relieved that I haven’t totally hit the wall.

    ToriGower
    Participant
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    #128225
    Reply To: Hello from someone in desperation…

    Hi

    I had 3 years of doctors trying to diagnose my symptoms which were similar to yours but have seen both Rheumatology and EMG departments and at last got my IBM diagnosis. My GP does not know anything about treatment but I have been to our “Falls Clinic” and I have a set of strengthening exercises which seems to be helping.

    Hope you get sorted soon. It is very upsetting being disbelieved and ignored and you will need to be assertive. You are the one suffering, not your Doctor.

    Colin42

    Colin42
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    #128252
    Reply To: Hello from someone in desperation…

    I have very cold feet, always have had, even as a bare foot child running along gravel paths … more recently they have started to change colour and I am wondering if this is a circulation issue, maybe it might be related to that. I also have an issue that when I have washed my hair or washed the dishes, having my hands for a prolonged period in the warm water, that afterwards they will go so cold it is verging on painful, thermal gloves and heat pads barely mange to warm them – again I am wondering if this is circulatory.

    Hopefully your Rheumo appointment will either bring answers or dismiss questions .. we MD-ers do have our curiosities to keep these intelligent medical types on their toes :yes:

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #128707
    Reply To: Hello from someone in desperation…

    I really should know the answer to this but wouldn’t a muscle biopsy alongside an accurate list of symptoms lead to a ‘yes’ or ‘dont think so’ answer? I seem to remember mine like THE moment from the Lion King – I was 7 or 8 lol.

    I hope you get somewhere, your medical professionals don’t sound all that great! You need an advocate who can help you fight your case and push for review from a medical perspective. They’re a rare breed unfortunately :cry:

    What about second breakfast?

    IG: https://www.instagram.com/kissofdarkness1/

    kissofdarkness
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    #128708
    Reply To: Hello from someone in desperation…

    I have very cold feet, always have had, even as a bare foot child running along gravel paths <em class=”d4pbbc-italic” i=”now”> … more recently they have started to change colour and I am wondering if this is a circulation issue, maybe it might be related to that. I also have an issue that when I have washed my hair or washed the dishes, having my hands for a prolonged period in the warm water, that afterwards they will go so cold it is verging on painful, thermal gloves and heat pads barely mange to warm them – again I am wondering if this is circulatory. :yes:

    sounds like raynaud’s, AM, at least that’s how my BFF describes it…not a doctor though! :LOL:

    What about second breakfast?

    IG: https://www.instagram.com/kissofdarkness1/

    kissofdarkness
    Participant
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    #128742
    Reply To: Hello from someone in desperation…

    I have very cold feet, always have had, even as a bare foot child running along gravel paths <em class=”d4pbbc-italic” i=”now”> … more recently they have started to change colour and I am wondering if this is a circulation issue, maybe it might be related to that. I also have an issue that when I have washed my hair or washed the dishes, having my hands for a prolonged period in the warm water, that afterwards they will go so cold it is verging on painful, thermal gloves and heat pads barely mange to warm them – again I am wondering if this is circulatory.

    Hopefully your Rheumo appointment will either bring answers or dismiss questions .. we MD-ers do have our curiosities to keep these intelligent medical types on their toes :yes:

    I get smurf feet and hands was diagnosed with raynoyds. which doc said is more in line with me being a short thin female lol.. but has got worse with the declining mobility.

    """""""What doesn't kill you makes you stronger""""""

    Cat (Mod) Cat (Mod)
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