Undiagnosed and rare conditions
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Look for help, can you suggest who I can turn too and help my case?

Firstly, my name is Chloe, I am a 22-year-old female. I have been left feeling extremely disappointed, frustrated and upset that I am currently in a situation where I have received numerous consultations over the past two years with various specialists, and I have been in excruciating pain throughout, and no one seems to be able to figure it out

As previously highlighted, I have seen multiple specialists both privately and through the NHS and I’m constantly being left with the same answers ‘I don’t know what’s causing your pain’ or ‘you’re a medical mystery’. I’ve left multiple specialists baffled and had loads of tests and scans and yet nothing has been detected. According to all tests I am perfectly healthy, but this is not the case, and all my consultants agree.

I have even undergone an operation (August 2020) for an incorrect diagnosis of compartment syndrome on both lower legs. I did not fit the box for ‘How’ or ‘why’ I had this diagnosis as I was believed to be the only person my consultant had seen to develop this syndrome without playing a high impact sport or having a severe injury. Following the operation my symptoms did not subside but in fact worsened from August 2020 until Feb 2021, I was still in terrible pain but being told the pain was recovery, however I could tell this was not right as my symptoms were still the same as prior. The surgeon believed a second operation might make a difference however after obtaining a second opinion from another orthopaedic specialist it was decided that I had been incorrectly diagnosed after informing me that it was impossible to have compartment syndrome without playing or having an increase in activity of a high impact and symptoms of compartment syndrome easing after rest whereas mine are consistent. 

Symptoms 

 

·      Excruciating pain in both lower legs

·      Swelling (everyday) to the point I can’t make a finger indentation

·      Discolouration in my legs

·      Coldness in feet and legs

·      Random bruising

·      Tightness 

·      Burning sensations like my legs are on fire

·      Painful to touch – Tenderness

·      Sensitive to any pressure (even a duvet is too much pressure)

·      Blotching on inner part of both lower legs after a shower (hot or cold)

·      Redness after a bath on both lower legs (not hot)

·      Pins and needles

·      Tingling sensations

·      Numbness on bottom of feet when sat down

·      I have pain in my knees this comes and goes (a pulling sensation/shooting pain)


My joints and knees hurt, to bend and unbend my legs is extremely painful. My toes and feet every morning feel cramped, and I have to stretch them and the first 5 minutes of walking around my feet and ankles are painful and click. I also experience hot flushes, out of nowhere I will get really hot and start to sweat.

I have a fatty lump on my left leg that appeared when my symptoms started, this is extremely painful, I have had this looked at, but I was told it was nothing.

I am constantly tired and drained and no matter how much rest I never seem to feel any less tired. There are days the exhaustion takes over and leaving bed with exhaustion and pain seems impossible and another daily battle. I do not get much sleep as there is always something that will wake me, certain positions for my legs cause enough pain to wake me.

 Sickness has now become a thing, I can only eat meals little and often, anything too filling or heavy will not sit right on my stomach and cause nausea until I am sick. This feeling can leave my stomach feeling tender and painful.

 I cannot walk far, exercise is impossible, stairs are my enemy and daily things everyone takes for granted are a mission for me. I have been reliant on crutches at times during these two years.

I have also just been diagnosed with Postural Tachycardia Syndrome -POTS, this was based off a 48-hour monitor and symptoms I was having.  This started December 2020.

 When I stood up or was standing, I would experience a high heart rate, hitting 180 bpm when standing and not doing anything to raise it. This would then cause dizziness, palpitations, brain fog, tingling in hands and feet and nausea. Sometimes leading to black outs or being sick. This leaves me short of breath / out of breath, simply walking up the stairs takes my breath away, as if I have just run a marathon.

It has come to the point that I have to think about how I will wash myself every day, the things I took for granted are now a real-life struggle. The shower will cause my legs to go a red blotchy colour and a tingling sensation with increased pain and having a bath with cause aggressive palpitations throughout my whole body and my legs will have their own heartbeat and tightness around my head, to the point I have to get out of the bath and lay on the floor this can take up to 30 mins to pass and will leave me exhausted. 

I have seen several types of specialists from Rheumatologists and neurologist to orthopaedic specialists, cardiologists and vascular surgeons and still no answers. 

All of these specialists did multiple examinations, scans and blood tests. I have had full body MRI’s, nerve stimulations tests, doppler scans, pressure testing, echocardiogram and many more.

Replies

  • Sandy_123Sandy_123 Member Posts: 1,352 Pioneering
    Hi @chloeanning 1st welcome to the forum, I can't really think  of who to direct you to, as you have already seen specialists privately and NHS. I can understand your frustration though at not getting right diagnosis, and I'm sorry your operation didn't offer you any relief. I have a link that may find useful below.
    https://rightasrain.uwmedicine.org/well/health/undiagnosed-diseases
    Hopefully that might of interest, Im sorry I can't add any more to your problem.
  • chiariedschiarieds Community Co-Production Group Posts: 8,543 Disability Gamechanger
    Hi @chloeanning - & welcome to this friendly & supportive community. Your post caught my eye because you mention PoTS (I haven't pursued a diagnosis of this, but most certainly have orthostatic hypotension, which is similar). I also have the discoloration in my legs (my knees & lower limbs I notice are a mottled purple colour in the shower, or if I feel cold).
    Unfortunately we can't know what your medical condition(s) might be, but we can share our personal experience, as well as links to reputable sources, so please see: https://www.nhs.uk/conditions/postural-tachycardia-syndrome/  where you will see the hypermobile type of Ehlers-Danlos Syndrome (EDS) being the first mentioned possible cause of PoTS. I have a diagnosis of this, so wonder if that has been looked into or excluded by your GP or rheumatologist.
    Most of your symptoms could be attributed to PoTS, but not all, certainly not bruising, nor pain. You may want to have a look on the EDS website if you'd like to look into this further. See: https://www.ehlers-danlos.org/    & in particular here: https://www.rcgp.org.uk/eds   noting 'Emerging major associations,' where PoTS is the first mentioned.
    Another good resource for you on PoTS would be here: https://www.potsuk.org/
    I hope some of this may help.
  • Cher_ScopeCher_Scope Posts: 3,673

    Scope community team

    Hello @chloeanning and welcome to our community,

    I'm sorry to hear about your undiagnosed condition and can only imagine from the symptoms you describe how this is making you feel.  

    In addition to the help received above,  I wondered if a needs assessment by your local authority would help in relation to the difficulties you're facing with daily tasks?  This NHS webpage outlines what that would entail, while to apply for a needs assessment you can visit this government webpage.

    I also wanted to check how this was impacting you emotionally?  I know from personal experience adjusting to chronic illness can be difficult, particularly at a young age and I wondered how you were doing?  

    I hope you're having a relaxing Sunday and please do keep us up to date with how you get on  <3
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