Undiagnosed and rare conditions
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3 years undiagnosed.

This time 3 years ago, I was healthy as a person could be. And then I got bronchitis. 

Ok admittedly I'd always been a chesty child, but not particularly sickly. In my time at school I actually hated that, I was never off. I used to have to tell my parents I felt sick or deliberately get in the way of the ball in PE and take a knock to the head if I wanted a day off school. 

But now I was an adult, and starting out in the world of work, and experiencing the end of term slump as we educators refer to it. The bronchitis came, but the breathlessness and tight chest and aching pain, stayed. The cough disappeared, but I still felt awful. I gave it 4 months before I went to the doctor, as the shortness of breath had risen to a point where I couldn't walk across my classroom without needing a break. I was terrified they would say I was just fat and unfit. I'd always been fat, but no-one could say I didn't do sports up until now - I was forever in the gym or the dojo or the zumba studio. 

After testing and proving about 11 times that it wasn't asthma, I got referred to the Royal Brompton, whose expertise was supposedly unrivalled. However, I only got to see a doctor once every 2-3 months despite having to go to the hospital on the regular for nebuliser treatments and for them to tell me they could see I was ill, they just didn't get why. Their lung function tests showed a flattened expiratory flow loop, but the x rays, CT scans and bronchoscopy showed nothing really. 

Then the blood tests showed really high levels of CRP, IgG and white blood cells. And I started having nosebleeds and bruising easily from nothing, feeling weak and dizzy. And of course, on top of the breathlessness, I got chest infections about once a month to every six weeks. 

The white blood cell levels are still high, I now have appointments with endocrinology, haematology and more with RBH, am advised to take vitamin C and B12, but still no diagnosis. 3 years later, and not even that many appointments because the gap between appointments is so long. 

The anxiety is crippling and part of me is completely and utterly terrified that it's all in my head, I'm making it up. I know I can't fake blood tests, or spirometry, I wouldn't even know how to try, but surely if there was something wrong someone would have found out what by now?? It makes life really tough at work and i'm eternally paranoid I'm going to be fired over it. I want it to be over. 

Replies

  • Adrian_ScopeAdrian_Scope Testing team Posts: 8,075

    Scope community team

    Hi @vicky8761, I can certainly understand why you're starting to think it's all in your head and I imagine a lot of people with undiagnosed conditions start to feel the same way. However, as you say, your blood results etc wouldn't lie and I think by this stage your doctors would have told you if they thought it was in your head.

    Have they given you any tips for managing your symptoms and have they put any form of plan in place to handle them? Are they still attempting to diagnose the cause?

    I've had a look online for support groups for undiagnosed conditions, but frustratingly I've only been able to find groups in the US, such as RareConnect or SWAN (Syndromes Without A Name) which is aimed at children and young adults (up to age 25).

    This is probably taking its toll on your mental health. Do you have much of an emotional support network?
    Community Manager
    Scope

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  • underdiagnosedunderdiagnosed Member Posts: 29 Courageous
    Hi @vicky8761. I'm not a doctor but my brother in law had problems with shortness of breath after exercise which turned out to be a hole in the heart. This has been successfully treated and can be detected from a heart scan. I believe other heart conditions can also cause breathlessness, but there have been many advances in cardiology in recent years so it may not be as terrifying as it sounds. I also have problems with breathlessness which are being investigated by cardiology - I have something called a loop recorder which is basically a long term implantable heart monitor, easily and painlessly fitted. It can take a lot of persuasion getting this on the NHS - it took me a second opinion but it is worth pursuing with your GP if you are concerned. I hope this helps.
  • worried33worried33 Member Posts: 399 Pioneering
    The feelings "is it in my head" come and go for me, usually when symptoms ease off,   But then I get a very bad day and I am reminded its not in my head.  Sadly they seem to look for easy and commonly diagnosed stuffed and when you dont fall into that bracket you can become undiagnosed.

    The danger I feel is tho if you push doctors, they may mark you as Munchausen or another syndrome (I forgot the name) where the person thinks they ill but they not, once you get put in either of these categories you would probably have a very hard time in been taken seriously.

    As an example I have had my OT tell me I have clear neurological symptons, same with my GP, but every single visit to a neurologist because the symptoms are not present during the examination (I am not one to fake), they will just discharge.  Consultants seem very hesitant to diagnose vs GPs and other lower down the ladder HCP's.  They seem to want clear visible evidence in front of them at the time.  Although I do have a slipped disc diagnosis.  The claim is that will only cause me minor issues (less than what I have).

    I dont know what to suggest, as the problem I have experienced is if you try and push for a diagnosis, you agitate HCP's, and cause yourself stress and anxiety.  It is kind of easier to just move along.  But at the same time its in the back of your head that if diagnosed and properly treated there can be a improvement of quality of life, and also better recognition from peers for your condition.

    My sister advised me to squeel out in pain when a consultant examines so as to get the message across, but I see that as been dishonest and have never done it.
  • vicky8761vicky8761 Member Posts: 3 Listener
    Hi everyone, thank you for your responses. Following a bad bout of pneumonia and over 24 hours sat in a hospital waiting room hardly able to breathe or move without cringing in pain, I have a diagnosis. We saw a wonderful doctor who referred us straight through to rheumatology. The rheumatologist came down to see me, and within ten minutes of reviewing my medical notes and doing a physical, was outraged that noone had yet suggested connective tissue disease. I have another clinic appointment coming up, and am looking forward to a proper treatment plan. There is hope!
  • Adrian_ScopeAdrian_Scope Testing team Posts: 8,075

    Scope community team

    Hi @vicky8761. That sounds terrifying but I'm really pleased the outcome was a diagnosis at long last. Hopefully the appointment comes around quickly! Best of luck with the treatment plan, please let us know how you get on. 
    Community Manager
    Scope

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  • pollyanna1052pollyanna1052 Member Posts: 2,032 Disability Gamechanger
    vicky8761 said:
    Hi everyone, thank you for your responses. Following a bad bout of pneumonia and over 24 hours sat in a hospital waiting room hardly able to breathe or move without cringing in pain, I have a diagnosis. We saw a wonderful doctor who referred us straight through to rheumatology. The rheumatologist came down to see me, and within ten minutes of reviewing my medical notes and doing a physical, was outraged that noone had yet suggested connective tissue disease. I have another clinic appointment coming up, and am looking forward to a proper treatment plan. There is hope!

    Hi, is this EDS?
  • Chloe_ScopeChloe_Scope Scope Posts: 10,653 Disability Gamechanger
    Hi @vicky8761, I am so glad you have finally been heard and that a treatment plan is going to be in place. I'm just sorry you had to go through a scary experience to get there! Hopefully you won't have to wait long for an appointment. :)
    Scope

  • WhileIBreathIHopeWhileIBreathIHope Posts: 216 Member
    vicky8761 said:
    Hi everyone, thank you for your responses. Following a bad bout of pneumonia and over 24 hours sat in a hospital waiting room hardly able to breathe or move without cringing in pain, I have a diagnosis. We saw a wonderful doctor who referred us straight through to rheumatology. The rheumatologist came down to see me, and within ten minutes of reviewing my medical notes and doing a physical, was outraged that noone had yet suggested connective tissue disease. I have another clinic appointment coming up, and am looking forward to a proper treatment plan. There is hope!
    My friend has mixed connective tissue disease and after years of ill health his treatment is stable and he is enjoying getting out and about.
    It took several years to get his medication right, but he is stable and has routine blood tests to monitor it.

    good luck
  • chiariedschiarieds Community Co-Production Group Posts: 10,229 Disability Gamechanger
    Hi @pollyanna1052 Somewhat confusingly as these sound similar disorders, connective tissue disease is different to the inherited disorders where connective tissue is faulty such as Ehlers-Danlos Syndrome (EDS) that you queried.
    Hi @vicky8761 I'm sorry it's taken so long for you to get properly diagnosed but pleased you're now on the path to getting treatment. My best wishes.
  • vicky8761vicky8761 Member Posts: 3 Listener
    Hi all, 
    Thank you for your kind words. I had my first clinic appointment yesterday where they discovered my kidneys have been damaged, and further diagnosed me with SLE. I won't pretend I haven't been a bit weepy and such since this, but it's nice to have a name to put to it. i've used a lot of resources at Versus Arthritis and Lupus UK, particularly the information for employers, to explain to people at work. I'll update where we go from here as I know! 

    Keep smiling folks! :)
  • pollyanna1052pollyanna1052 Member Posts: 2,032 Disability Gamechanger
    what`s SLE please?x
  • chiariedschiarieds Community Co-Production Group Posts: 10,229 Disability Gamechanger
    Systemic Lupus Erythematosis, or Lupus
  • Chloe_ScopeChloe_Scope Scope Posts: 10,653 Disability Gamechanger
    Hi @vicky8761, thank you for updating us. I know receiving a diagnosis can cause so many different emotions, and it's okay to feel all of those. If there is anything we can do to help you adjusting to this then please let us know.

    I'm glad you have a lot of resources and you'll be able to explain things to your employer.
    Scope

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