Suspect Scleroderma or other Auto-Immune disease but unable to get a diagnosis - desperate

My husband has been confined to bed for the last 8 months. He suffers with exhaustion, fatigue, oedema and breathlessness. He has intermittent episodes of sharp, fluttering sensations under left rib cage. His skin is a very strange grey colour, his hands and feet are puffy and fingers are changing shape. He has cold extremities and a permanent cold sweat on his brow. He suffers with dizziness when rising or bending down and has blacked out on occasions. Sometimes he gets a bout of breathlessness just sitting on a chair or when under no physical strain at all, his heart pounds and he get breathless for a few seconds before it eases. He has often a dry mouth and had occasionally trouble swallowing, muscle pain especially in lower legs and limbs feel heavy. GP did blood tests ,echo-cardiogram, chest X-Ray and ECG. They all came back as satisfactory. GP discharged him and told him to change diet in late June. We made numerous trips to surgery and suggested auto immune diseases as he has obvious Raynaud's and my husband was told that it was anxiety and depression. He has had Spirometry tests which show his lung capacity to be down by 25% and despite the nurse that took the test sending an alert to the GP it was ignored. Since then, he is no better but we have been left high and dry. The GPs make some feeble excuse or another each time we arrange an appointment, even the Cardiologist at the Hospital cancelled his appointment without even checking him over, despite purple lips, fingers and feet, oedema which diuretics do not completely clear from lungs and pains in abdomen.

We are desperate for a diagnosis but we are either ignored and passed from one person to the next, none of whom appear to be interested or have any understanding of the problem and or how to pursue it.

Can anybody associate with these symptoms and offer any advice on where to go or what to do next please? We are at our wit's end.

19 Replies

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  • Hi carray

    It is worth knowing exactly what has been tested for. I was back to my GP numerous times before he even tested for ANA which is normally positive in autoimmune disorders, that said when you read the posts there are always exceptions and exasperations. Your aim is to get him to a rheumatologist especially one who has knowledge and expertise in this field. Good luck

  • Hi butch54, I asked for ANA tests in October and dr informed us that they were negative and refused to refer me to a rheumatologist. I believe that up to fifty percent of antibodies are missed if matrix assay is used in the labarotory, and not immuo fluorscence. I only know this because my wife is a nurse. Thank you for advice .

  • Hi,

    Having read your letter I am absolutely disgusted. Not in the least bit surprised. Nevertheless disgusted!

    It is a typical to the extent of being tedious. I have suffered from scleroderma for fifteen years plus and am about to loose the tips of two fingers thanks to an attitude that seams all too similar to the one that you encounter.

    What I am about to say will probably go against the grain for you as, I would suggest It would for many people.

    The time has come for you to STOP TAKING CRAP! Generally speaking our good old family doctors know absolutely nothing about Scleroderma / secondary Raynauds and the associated symptoms and diseases that accompany them.

    You NEED to find the most highly qualified Rheumatolagist that is within striking distance of you travel wise and by foul means or fair GET AN APPOINTMENT. Should It be necessary you may have to change your GP in order to get a referral. That said.

    No great loss as the current one obviously is incompetent.

    IT will not be easy for you but you will make progress If you keep push, push push, pushing. And make notes of every action you take and the comments that come back to you.

    STEP 1: Get a rheumatologist. Until you have achieved that you will find things very hard going.

    I will try and help you in any way that I can having been through the mangle with this nonsense and ill educated narrow minded people. You may get the impression that I am more than a little upset with them. I am! But I think I have found out enough of how the system works to help you get the help you very obviously need.

    Between us my other half and I are getting there just. my email is: mfc911@gmail.com so you can contact me direct should you wish to (please feel free).

    Rather than bombard you with info at this stage Rheumatologist first.

    then let me know how you get on and I will do my best to help you.

    This !!!!!!!! disease is doing it's best to destroy my life and I'm not going to let It.

    I have reams and reams of paperwork on it and am happy to share it and any knowledge that I have akrewed down the line. Oh, and just to get things straight from the start. I am a Scleroderma sufferer personally. I will happily help in any way that I can without any form of charge compensation or that nonsense. I am not professionally qualified so any information that I may give you is my own "best guess" and is based on personal experience.

    Also please excuse my typing and spelling. my fingers hurt and I have become belligerent in my old age.

    Let me know how you get on.

    Good luck with stag 1. I ook forward to hearing from you.

    Regards. Mark. Field-Carter.

  • Hi Mark,Thank you for your outstanding advice. My wife went up to the surgery and demanded a rheumatology referral. I have an appointment with my GP in two weeks time. She was accused of being pushy and that she should spend less time looking for information on the internet. She was furious and pointed out that they had a very unprofessional approach and their knowledge on systemic sclerosis was very limited.

    She stated that she was prepared to take the matter further. We appreciate that these conditions are not easy to diagnose and they are all too aware of their budget.

    Hope you are keeping as well as you can .Thank you and your partner for taking the time and effort to reply to our post. I may well contact you sometime in the near future for advice and to let you know how I am getting on.

  • Hi Carray,

    That is FANTASTIC news. As I said in my last post it is difficult for some of us if we are not naturally pushy. The thing to remember is that It is your quality of life. Not for a week or a month. For life. Dealing with obstructive people is not easy and when it's all getting too much just do what an old boss of mine used to advise us to do in high pressure meetings..imagine them naked and laugh!

    Once you have a Rhuem'y appointment life will become more simple. Bear in mind that there are lots of them out there and if the first one doesn't suit you you are not obliged to stay.

    I try to keep a diary. It is handy for appointments if one can remember;

    how well you slept over the last few weeks. Fatigue levels, even diet.

    I know it sounds bothersome but even a few nots can help. All information is good information. Try and keep notes on; joint pain, dryness of mouth / eyes. Things that may sound trivial in themselves. Nevertheless they all add up to make a whole picture of this thing called scleroderma.

    Once the diagnosis is sound and you know what you are dealing with things will get even more interesting balancing out pills and potions to get you up and running with the least possible disruption and interruption to your life. There are lots of drug combinations that may be used to help you and any competent Rheumy will sort those out for you. You do not need to be in pain the side effects can be overcome.

    The fatigue thing is a hard one to beat. Try and eat small potions every 4 / 5 hours. don't eat too late. plenty of juice / vit C Personally I love cherry juice (im not sure if the advantages are psychosomatic to justify the extra cost) I just happen to enjoy it. Generally diet should speak for itself lots of "Real food" try to avoid the things that we all know are bad for us.

    I would recommend looking at the Association for Raynauds and Scleroderma info. It is limited however, better than nothing. The Americans have done a lot more research into the subject.. John Hopkins centre is a a good place to start.

    Ok, I must go and do some work stuff (boring).

    Congratulations on taking the first big step in the right direction. Well done. No looking back now.

    Please keep in contact and once more if I can be of any help don't hesitate.

    Well done once more and good luck. Keep smiling and don't forget to

    visualize them naked when your being patronised. Smile and give them the: "with the greatest of respect you are talking absolute rot. Get me someone in authority NOW"!

    Take care. Mark.

  • Hi MFC911,

    Thanks for your reply.I agree that we have to toughen up and be more forceful. Systemic sclerosis is such a rare disease and our GP resented the fact that we brought the diagnosis to him.They are not well up on autoimmune diseases .

    My husband eats a lot of garlic, herbs and spices.He drinks cranberry juice and has a glass of red wine in the evening,( for medicinal purposes only}.He also takes multi-vitamins and minerals.

    We found the videos on The Association of Raynauds and Scleroderma most informative. We clicked on Health Professionals and listened to Prof.Chris Denton and his colleagues who gave an invaluable insight into scleroderma and treatments available.

    Hope you and your partner are keeping as well as you can in the circumstances.

    Best wishes,

    Carray.

  • I have to agree this is appalling. There is something I would consider doing:

    1) requesting a copy of your medical notes from your GP (they have to provide these but may charge you - look into your rights to these and to avoid any arguments, put together a letter to the GP Practice Manager to request them)

    2) walk into A&E with the chest pains and with your medical notes and tell them you believe you have Scleroderma. (you mention your wife is a nurse: if this is possible, see if she can find out what shift the attending for the medical referrals is a Rheumatologist).

    alternative 2) change GP practice, take medical notes to new GP and immediately ask for a referral to one of the Scleroderma specialist centres.

    best of luck - please let us know how you get on?

    Ellie

  • Hi Bear,Thank you for your excellent advice.We may well have to follow your suggestion as we are getting nowhere through the normal channels.My wife went up to the surgery and demanded a rheumatology referral.They hinted that we are a pair of neurotic hypochondriacs. My wife stood up to them.

    Thank you again for your reply.

    Best wishes,

    Carray.

  • I agree. Push to see a Scleroderma specialist. If you are anywhere near London, ask to see Prof Chris Denton (or anyone in his department) at the Royal Free Hospital. You should not be suffering as you are.

  • Hi stostee, Thank you very much for the valuable information. We have heard great things about Professor Denton.Unfortunately,we are too far from London.We will seek a Scleroderma specialist nearer to home.

    Best wishes,

    Carray.

  • I became unwell in July 2014, when I was unable to get myself dry after having a shower, it came on quite suddenly and I went downhill very quickly.

    My GP is very helpful and referred me to a Rheumatologist, the waiting time was quite long so I got a private consultation and the rheumatologist said he would see me at my scheduled NHS appointment to follow up.

    Within in a month I was in a wheelchair and not well at all, I was unable to walk very well, my hands were like claws and I was generally feeling very unwell.

    He admitted me into hospital straightaway and from there I had many CT scans, MRI scans, PET scan, endoscopies, X-Ray's, blood tests over a period of time.

    The doctors would visit me every morning and some days there were up to 11 doctors. I was in hospital for 8 weeks.

    Eventually I was diagnosed with Myositis with a Scleraderma overlap and Dysphagia, the consultant rheumatologist has been great and keeps my GP updated. He trained at the Royal Free hospital in London. If you can get to see a rheumatologist, worth seeing if there are any links with the Royal Free hospital, as they seem to be experts on Scleraderma.

    Good luck.

  • Hi MEW53,

    Sorry to hear that you have been so ill.We sincerely hope that you will respond to treatment. Your symptoms came on so quickly.

    My husband should improve over time. Unfortunately,he has had active disease for the last seven months and has been left undiagnosed. He has heart, lung and joint/ muscle involvement.He has collapsed on quite a few occasions. His GP was useless and refused to listen to us. He should be seen in early December by a Rheumatologist who specialises in autoimmune diseases and systemic vasculitis. Another Consultant referred us to his colleague as he agreed that my husband is ill and urgently needs treatment.

    I am so glad that you have an understanding GP.Thank you for your reply.

    Best wishes,

    Carray.

  • Hi carry so sorry you are having so much trouble with your GP they can be so ignorant to the suffering I have scleroderma and my previous GP was great and referred me almost straight away to a rheumatologist Dr Dubey in Coventry who is very clued up on the disease and Prof Denton visits the hospital regularly to over look Dr Dubeys patients we are very lucky I know, my GP has left and I now have to deal with a practice of ignorant doctors who really haven't a clue so I find I have to take the lead and tell them what I want from them ie sick notes, change of prescription and so on because they know nothing one GP I saw even goggled scleodrama infront of me lol! You need to stand up and take the lead! If you are any where near the midlands I recommend Dr Dubey at Coventry university hospital he's a gem! And Prof Denton will be over looking your case too he's also a gem! Good luck and kick your GP into touch demand a referral!

  • Hi Missnash,

    Thanks for your excellent advice.Your GP was so efficient and referred you straight away. We are of the opinion that they should update their skills on a regular basis, especially in the field of autoimmune diseases.

    Hope you are responding to treatment. My husband has an appointment with a rheumatologist in early December. Another Consultant referred him to his colleague who specializes in autoimmune diseases .I brought the diagnosis to

    the GP two months ago but he chose to ignore it and refused to refer him.

    He is an ignorant little man who could not bear to be challenged .

    It sounds like you will have to educate the other doctors in your surgery.Most doctors are so professional and they would appreciate you filling them in.

    Best wishes.

    Carray.

  • Hi Carray you need to get him to a Rhumatologist they will sort him out. Good luck.

    Joan

  • Hi Carray there is a really good Rhumatologist at the QE in Birmingham called Dr E. Derrett-Smith. She is a consultant from the Royal Free who is now heading the team at the QE and obveously heads the Scleroderma side of thing she is worth a visit if your local rather than travel to London. she still travels down to do clinics with Dr Denton once a week too.

    Joan

  • Hi Joan,

    Thank you so much for recommending Dr. Smith. We live too far away from Birmingham. My husband will finally be seeing a Rheumatologist next week. Another Consultant saw him recently and he agreed to refer him to his colleague. He is a Rheumatologist who specializes in autoimmune diseases and systemic vasculitis.

    Our GP failed us and could not accept that we brought the diagnosis to him.He chose to ignore him and my husband has been bedridden for seven months. They need to update their knowledge and understanding of autoimmune diseases.

    Thanks again,

    Carray.

  • You should consider reporting this useless GP to the GMC. General Medical Council, for not helping. Such GP shouldn't be practicing as a Doctor.

  • coniston 11,Thank you for your sound advice. We should consider doing just that. He was unable to deal with it and hit out at us verbally.

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