How to get diagnosed?: Hi I just need... - Scleroderma & Ray...

Scleroderma & Raynaud's UK (SRUK)

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How to get diagnosed?

flowflow
flowflow

Hi

I just need some advice. I’ve been ill for about 16 years, progressively things have got worse. About 6 years ago they discovered a positive ANA, 1:300, when retested it was positive again but this time only 1:40. I’ve had several since and most the time it’s positive 1:40, however on 2 occasions it’s been negative. I’ve been told the shape of my blood from the ANA doesn’t fit anything they know. I’m currently still not diagnosed. I’ve been told so far it’s UCTD but they also said it is highly likely to progress into something that is either very rare or unknown due or it could end up matching something they recognise.

My symptoms keep getting worse. I’m having: many gastro issues: motility problems, possible issues with stomach emptying, starting to choke on food and struggling to swallow some foods, diarrhoea, constant bowel pains, rashes that come and go on my skin, random swelling that comes and goes, telangiectasia, mouth ulcers, severe raynauds, joint pain, if I walk too much (too much being not much to healthy people) then I end up feeling like several my muscles have been pulled, headaches, asthma and frequent chest pains...

The most recent dr I saw feels that this could be systemic sclerosis. My question is has anyone had symptoms suggestive of autoimmune however the blood work is inconsistent and therefore they haven’t been diagnosed? I’m being given the impression I can not be diagnosed until blood work matches something. So my question. Is - is the only route to diagnosis via blood work or is there any other option open to me? I feel everyone I see knows something is wrong but doesn’t know what to do :-( meanwhile my stomach in particular is getting worse and I don’t know what I should be doing to make it better. I feel if I knew what I was dealing with I could at least look at options to manage it...

Thank you for any reply.

12 Replies
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Sorry to hear about your problems and that you are feeling so rotten. First thing you say is that this has been going on for years and gradually getting worse, have you ever seen a Rheumatologist or been referred to a specialist unit for systemic sclerosis, as they should be able to confirm a diagnosis, In my experience everyday GP's do not know much about this disease. I have had systemic sclerosis for 14 years, which is gradually getting worse, I to have a lot of gut related problems , as well as prescribed drugs I have recently added Pepperminn capsules which I think have helped. It's not much fun when you don't know what you are dealing with and I think you should push for a referral to get some answers. Take each day as it comes, live within your comfort zone. Wishing you all the best.

flowflow
flowflow in reply to AnnieMc

Hi thanks for your answer. I have seen rheumatologist and just get told something is wrong but they don’t know what and I’m too young for this type of disease anyway :-( I’m at a loss on how to get listened to. I have asked for another appointment but not heard back yet.

Hi. My 15 year old son has MCTD/ UCTD. He has responded very well to an autoimmune diet. Lots of stomach issues have resolved since starting the diet. It could be worth trying whilst your doctors are working on a diagnosis. You have to exclude a lot of stuff but also include lots of whole foods - a range of vegetables, good fats, high quality meats. You can find more information on line or a good functional medicine practitioner or nutritionist in your area could help.

Liz x

flowflow
flowflow in reply to LizzyCee

Hi thanks I’ve never heard of a UCTD diet? Will I find it on google?

LizzyCee
LizzyCee in reply to flowflow

Hi. My sons diet can be used for any autoimmune disease. If you google autoimmune protocol you should find some information. I’ve read a lot of books on the subject by people such as Amy Myers (the autoimmune solution), Sarah Ballantyne, mark hymen, mickey trescott, Steven Gundry (the plant paradox). Also check out russ Crandalls website (thedomesticman.com) for a really inspiring personal story. It’s a difficult diet to stick to with lots of things off limits. No processed foods at all, no grains (especially gluten), no dairy, nuts, soya, eggs, nightshade vegetables eg tomatoes, peppers, white potatoes. All other veg ok - in large amounts!! Fish and meat ok but we try to stick with grass fed, pastured, organic and wild fish. Equally important is sleep, relaxation, avoiding environmental toxins, exercise etc. He was 10 when diagnosed and on loads of meds. Now off all meds. It’s not been easy and he has had a few little flares but always coincided with when we have tried to reintroduce foods. Things always improve when we go back to the protocol. He is 15 now. Remains under the care of rheumatology with regular reviews but doing well, living a ‘normal’ life of a teenager, just restricted in what he can eat - but that’s better than the alternative in my opinion. If I can help any more let me know. You can send me a PM if that helps.

Liz x

Hi,

Systemic sclerosis is usually diagnosed by a rheumatologist (or scleroderma expert) on the basis of clinical symptoms. Blood tests are a factor to take into account, but in themselves do not constitute a diagnosis. If you have not seen a rheumatologist yet, then it is time to ask for a referral, and do not take no for an answer. If you have seen one, then ask for a second opinion or a referral to the Royal Free hospital if you are in England.

best wishes

flowflow
flowflow in reply to pino99

Hi thanks for your answer. I have seen rheumatologist and just get told something is wrong but they don’t know what and I’m too young for this type of disease anyway :-( ive been them since I was 25. I’m at a loss on how to get listened to. So it is possible to get diagnosed with just symptoms even if blood work is unstable? I have asked for another appointment with who I’m with but not heard back yet. I’ve asked if I can go elsewhere and got told only if blood work confirms issue?? Where’s the royal free hospitAl?

Hi flowflow. You must feel like you are going round in circles and getting nowhere. My experience has been very much like yours. I did eventually get diagnosed but it took a couple of years to get to the bottom of things. Your symptoms sound very much like mine too. I was diagnosed about three years ago with system sclerosis (sometimes called CREST) both of which seem to entail Raynaud's and Scleroderma. Like you my GP just tells me he knows nothing about it and hasn't seen it before. It was the hospital who came up with my diagnosis (Rheumatology Department) but that was after having every scan, test, x-ray they could think of. I think you need to see a Rheumatology Consultant. I wish you the best of luck and hope your doctor will do something for you.

flowflow
flowflow in reply to Betsie

Hi, thanks for your answer. I have been told CREST too. I have seen rheumatologist and just get told something is wrong but they don’t know what and I’m too young for this type of disease anyway :-( I’ve had lots of tests - they did raynauds year and found severe raynauds. They did capillaries test which was inconclusive but the Tech that did it said it wasn’t normal. But all I get constantly is ‘you’re too young’ I even got told the other day all my bowel issues is just ‘IBS’. I was so fed up as I know what IBS is and this isn’t it. I’m at a loss on how to get listened to. I have asked for another appointment with rheumatologist but not heard back yet.

sorry to hear you are having such problems, sadly I too have been in the same position for 20+ years with my condition deteriorating, all my GP say's is it's Raynauds, when bloods come back showing positive ANA she tests again till ok. I was referred approx. 6 yrs ago to Rheumatologist who also repeated bloods till ok then said I was the wrong age group ! and don't get too stressed, I've seen other Dr's and they say everything is connected but I have to wait for Rheumy and Neurology to diagnose, so keep taking the pain killers and come back when GP thinks it necessary - which isn't any time soon and don't get stressed !!. I hope you get the help you need soon :)

Hello Flowflow, sorry to hear about your problems. I seem very similar to you and thought it might help you to explain what I’ve found helps. Firstly I’m not sure where you live but you ask where the Royal Free is. It’s in London and is the centre for excellence for the UK. I have been going there seeing Professor Denton’s team for years and strongly recommend you push for a referral. Secondly, UCTD is a diagnosis. You are still suffering from an autoimmune condition with all its problems despite its cumbersome name. In the last year my symptoms have worsened all due to signs of limited systemic sclerosis according to the professor. This is after a period of prolonged stress. I’ve developed small intestine bacteria overflow, (I’ve had slow transit for years), urine retention and a prolapse. I’m still told my diagnosis is UCTD which I’m quite grateful for as I was antibody positive some years ago and only have skin thickening in my lower fingers. I am now trying to sort out my diet by seeing a nutritionist. I don’t feel I’ve got there yet but I feel it’s helping and psychologically I’m feeling more positive and I can achieve some quality of life. I think Lizzycee is right diet can help along with a good rheumatologist. The Royal free should be able to help you with your choking on food as it shouldn’t be left without sorting out at least. I don’t know where the ‘ normal’ for this disease comes from. I was in my 40’s when I became ill and I’m now in my 60’s. I have a very good friend who became ill in her 20’s with MCTD (that’s what some doctors used to call it). She is now in her 50’s. Everyone is different. They like not to give a positive diagnosis for a Connective Tissue disease until they are sure - for instance I had symptoms of Lupus for some years. I hope this helps and wish well.

Hi Flowflow, I am not a doctor. However, I have been diagnosed with C.R.E.S.T. I have every symptom for all the acronyms, but thank God it's limited scleroderma right now. My Raunauds is full blown and the cold is absolutely miserable. I have 3-4 different pairs of gloves for all uses. I do have swallowing difficulties, but only if I do not take my daily omeprazole. Easy to get over the counter, but less expensive if you can get your doctor to give you a prescription. Still relatively cheap. I get constant flare ups of pimple-like abrasions on my hands, back of my neck, forehead, etc. My rheumatologist sent me to a dermatologist who did not know what it was and prescribed to different types of creams. I alternate the morning and the evening. I also have a thyroid problem called Hashimoto's disease, but that is not the T in C.R.E.S.T. That's called Telangiectasia. Hope I have helped.

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