scared newly diagnosed

[Jaq1971]

I’m afraid of this diagnosis it has been two years of constant back and forth to many doctors and nobody seemed to understand what was happening to me I had no skin issues only a few spots on my hands but my ANA has come back positive for systemic sclerosis it is attacking my oesophagus I cannot take solid foods and my intestines I do have raynaulds too but when I look online it’s terrifying as it would seem I have the worst form of this condition can anyone help me to understand

[Intimeslikethese]

Are you experiencing GERD? I found otc Pepcid AC chewable helped. And staying hydrated with water. It is easier for me to drank carbonated water. Also, just a simple walk inside home after eating help keep my bowels active. I also believe in my Schiff’s Digestive Advantage PRObiotics gummies 2 per day. My RX is liquid oral mycophenolate. There is a medical process I’ve heard for your throat.

[Jaq1971 in reply to Intimeslikethese]

yes I believe so I had a barium swallow and the liquid sat in my oesophagus for 25 minutes I’m having a camera down on Tuesday I suffer with constant heartburn and vomit regularly I’ve lost 3 stone since September it’s not good

[Buttsy]

Hi jaq1971,

I know exactly how you feel I am back and forward to I am newly diagnosed like you with positive centromere but no definitive diagnosis yet,just probably.I have gerds and a hiatus hernia which i was diagnosed with along time ago, I am on PPI rebeprazole which help a lot , however recently my symptoms seem to be getting worse chest tightness and a feeling of someone squeezing inside the middle of my chest and swollowing can be hard, but no one as investigated this further. I feel for you I am very scared to, my GP don’t seem to know what to do and my Rheumatologist doesn’t seem interested just said see you in 6-8 months. Now I have a rectocele and bladder problems,weeing a lot and burning ,heaviness and ,recent blood test came back high potassium which may suggest kidneys not working properly, for me this only been since last August the symptoms and problems seem to come on so fast, it feel like everyday a new symptom. I like you don’t have visible skin symptoms but I do have Raynaud, hand swelling even up to my elbows, pain in hands, arms ,legs and neck, I have also developed odd swellings odd bumps in my legs, they have checked that for DVT nothing came back on that thank goodness . It is very worrying and I know how you feel, they have suggested mine diagnosis point towards the limited Systemic sclerosis, can I asked which type you have ? Sorry I can’t be much help but hope knowing people are in the same boat may be some comfort.what do we do ? Who do we see ?

[Jaq1971 in reply to Buttsy]

my rhemotologist called me yesterday and said I have sine sclerosis and need to be seen in London ?? I live in Somerset but I’m happy to travel I made a complaint to pals as gastronology where fobbing me off and telling me I have IBS apparently the form I have doesn’t show on skin it attacks internally so if your not getting answers push hard as it’s awful and scary xx

[Tiggywoos in reply to Jaq1971]

Jaq gosh I’m so sorry I live in Somerset too and rheumatology is practically non existent . My gp also doesn’t know what to do or have a clue . My husband has colitis and Gastro department seems to have practically disappeared so I really feel for you

I think prof Denton is who you need to see ? Take care xxx

[Tiggywoos in reply to Jaq1971]

you’ve had some fantastic responses and there’s so much knowledge on here way more than we’d get from some consultants . Just read further down and I’m so glad you’ve got appointment with Chris Denton he sounds like a lovely caring man who’s top of his game xxx

[Jaq1971 in reply to Tiggywoos]

thank you so much gastronology in Somerset are shocking xx

[OldTed60]

Hi. I’ve been doing all this for 12 years so perhaps I can reassure you a bit. If you go online for info about prognosis with systemic sclerosis then you will see all sorts of scary stuff. However the thing to remember is that it’s actually the most heterogeneous of this family of systemic autoimmune diseases and there are so many different ways it can go. There are also many treatments you can try which will modify or even send it into drug induced remission. This is where I seem to be just now although the length of time it took to get correctly diagnosed and medicated has meant I do have quite a lot of internal damage now.

You say you seem to have the worst sort - so I’m presuming you mean diffuse? Have you got a specific ENA antibody and symptoms beyond just the GERD and mild skin changes to confirm? ANA patterns are very non specific so you can’t self diagnose any type of systemic sclerosis from this alone - it has to be diagnosed by a rheumatologist by symptoms and signs including a more specific antibody. And even then, as I say, it’s a different pathway for each of us. Reflux and hiatus hernias etc are very non specific as is Raynaud’s.

I have severe reflux which is quite well managed with maximum esomeprazole but was left too long on low dose omeprazole before my doctors realised the extent of my gut involvement. I also have severe gastroparesis and very slow colon transit with refractory SIBO.

But since diagnosis of these I’ve read up and got a few helpful treatments and experimented with low fodmap diet and things are now fairly stable. None of this severe gut stuff or my Raynaud’s will ever improve but I’ve settled for good management and the highest dose of Mycophenolate with regular Iloprost infusions.

My autoantibody points to diffuse but my doctors think it looks more like limited with sjogrens overlap and possible polymyositis. After 3 years all my blood work apart from consistently high antibody has stabilised and I feel pretty positive these days. I work and enjoy my family and honestly don’t worry nearly so much about the future as I used to. And I only go to SRUK and other international reputable charitable or educational sources for info occasionally now.

[Jaq1971 in reply to OldTed60]

I have been told it’s sine sclerosis and there really is not much info about it I do have raynaulds but my skin is not Affected it’s all internally mainly bowel swallow and acid reflux I’m sick at least twice a week and keep getting upset tummy’s that keep me in the bathroom for hours at a time I’ve lost 3 stone since September 2022 gut etc I do have pain in hands feet and knees but no swelling my rhemotology have referred me to the royal in London to see professor Christopher Denton to be seen and yes I test positive on ANA and several other tests I have glass nodules in lungs and liver function is poor when I have never drunk any alcohol also I am malnourished due to inabilty to keep any food in let’s hope they sort me soon or I may disappear 🫠

[OldTed60 in reply to Jaq1971]

I have all these too inc Sine so I commiserate - on a mostly liquid diet and looking to enteral (tubes) feeds if I keep losing weight so relate to 🫠. I can’t get referral to prof Denton from devolved region so would have to see him privately which would be v dear and I’m not sure I could do the travel now tbh.

You don’t say if on treatments at all? Mycophenolate 3g has been a game changer for me - apart from the severe GI for which it hasn’t prevented progression. It’s helped lungs and think it is likely reason why my skin hasn’t become involved other than red spots and some early furrowing recently around lips. Not bad considering onset was likely misdiagnosed RA 12 years ago.

But then I’ve had long spells on methotrexate, Hydroxichloraquine, Azathioprine - allergies to all and recently IV immunoglobulins for gastroparesis and bowel. Sadly didn’t help and gave me a potentially fatal necrotising reaction in mouth and lips.

Just trying to make the point that if I’d gone online about my antibody and scleroderma 12 years ago I’d have read that I’d have long exceeded my life expectancy by now. Also I was told by a rheumatologist that Sine tends to have a better outlook (more often limited than diffuse) than if there’s skin in involvement. I hold onto positive nuggets like this because I’m a glass half full type and I’m still very much alive and kicking thanks to the treatments I take and radical changes in diet and in my expectations of myself. This works for me but obviously we are all different.

[Jaq1971 in reply to OldTed60]

thanks so much for sharing yes I’m on primidone for my raynaulds and Hydroxicloriquine also omeprazole biscadoyl gaviscon and ramipril and statins I had a TIA in November which they also think is due to this I’m hoping when I’m seen by professor Denton he may give me other things to help control my symptoms as it’s the same I can only really tolerate liquids I’m on fortisips blaxkcurrant as I’m also coeliac and dairy intolerant so limits what I can have

[OldTed60 in reply to Jaq1971]

that’s such a misfortune having the additional autoimmune intolerances. I’m broadly gluten and dairy free but I can tolerate Ensure Plus and homemade Soya milkshakes at least. I couldn’t tolerate Hydroxichloraquine at all due to severe skin allergies. I do hope you get relief from good treatments once you see Prof Denton he sounds an excellent specialist and also very nice I’m told.

[Jaq1971 in reply to OldTed60]

well thanks so much for all of your knowledge you have helped me more than you know maybe you could request with your rheumatologist to refer you mine was the one who suggested it on his own admission he told me he has so much experience in this field

[OldTed60 in reply to Jaq1971]

I’m so pleased if I’ve been able to help. The aspect of your post that concerned me has been picked up on very articulately by others here. The internet gives us outdated information which can be very misleading.

My own situation is politically complex and I’m actually booked to see Prof Denton privately now because my multidisciplinary team can’t reach a diagnostic consensus due to the lack of skin and capillary changes. My nhs rheumatologist is really good and very nice but they don’t see scleroderma or Myositis patients here as they are a lupus and RA specialist. I really want to stay with them so we have a private arrangement that we just call it CTD and they treat me belt and braces anyway. I think this might be becoming unsustainable though as other specialists eg my dermatologist are increasingly saying it’s clearly scleroderma. I tell myself I don’t need a specific label and don’t want to go back to the local scleroderma team as they were not willing to acknowledge Sine although my autoantibody is too specific for them to ignore.

But constantly not having diagnostic clarity is doing my head in. I am worried though that if Prof Denton confirms scleroderma then my rheumatologist would have a professional obligation to pass me back to their colleagues with whom I have serious trust issues.

Maybe a case of curiosity killing the cat if I see him? Especially as I’m finally maximally treated with Mycophenolate, Losartan, Iloprost, a prokenetic, prescribed laxatives, esomeprazole, colon irrigation and antibiotics for SIBO.

So I’d really be seeing him for diagnostic clarity which might help if he said it’s all neuro Sjögren’s and UCTD, but wouldn’t help much if he said systemic sclerosis - apart from to confirm what all my specialists here privately think. But he is one of the world’s leading scleroderma specialists and my partner has raised the funds from wider family for me to see him as a one off.

Apparently he would want to be able to receive info and contact my rheumatologist by letter and anyway I’m not good at keeping secrets - especially from my rheumatologist whom I think the world of. I have a phone appt to talk this through with my GP on Monday as he’d need to make the initial referral.

Sorry to bore you with my own dilemma but I live in a devolved part of U.K. and my area healthboard would not pay for me to see a London specialist when there are local ones - even if they don’t believe in Sine and are the reason my gut problems have now escalated to have caused so much permanent damage.

If I’d had scleroderma on my list of diagnoses then the gastro would likely have seen and treated me sooner and I may not now be looking at needing feeding tubes and ileostomy.

[Jaq1971 in reply to OldTed60]

God in so sorry this has been your experience I have no trust in my gastroenterology team here as they tried to tell me for 2 years it was functional or in my head and it was only when I made a complaint to pals that I saw someone else who did a immune screen and picked up on this through the ANA test my first rheumatologist was dismissive and sent me away the very next day I had a tia and then all systems go next thing I’m having tests all over the place and a new rheumatologist was tasked to see me and he is amazing so kind and he told me this is what I believe you have and that’s why most of your symptoms are in you bowel gut and espohigus he then said I want to send you to London to be seen as honestly we are not equipped to deal with you here as only 5 percent of people present with this and without skin involvement I am the same I said please promise I won’t lose you if I go to London and he assured me that will not happen I really hope you get the help you deserve as I’ve only been like this for 2 years and it’s taken me to dark places in my mind so I truly don’t know how you have coped for so many years xx

[OldTed60 in reply to Jaq1971]

Bless you we sound so synced with Sine, gastro gaslighting and poor rheumatology advice.

Only 4-5% carry my SSc antibody and it only showed up at start of pandemic - although a different rheumatologist had already diagnosed me with Overlap sjogrens (diagnosed by lip biopsy years ago) and only 5% of SSc patients have Sine so my GI problems were blamed on autonomic and small fibre neuropathy of sjogrens. This has never really made sense and 2 gastro’s said functional IBS sjogrens just gerd and chronic constipation.

Then once antibody showed suddenly everyone took more seriously but scleroderma drs here said very rare antibody for a rare disease let’s be guided by the risks of the diffuse antibody and watch heart and lungs. I asked about Sine but he hedged and said more likely Sjogrens autonomic. This never made sense to me as don’t have Sjogrens antibodies.

I finally broke down when my new rheumatologist called mid pandemic and I told her I can’t eat without being sick and feel sick awful pain 24/7 - bowel incontinence, unintended weight loss etc. I said gastro had passed me to a colorectal dr who phoned, blamed scleroderma and told me to eat high fibre and try irrigation and prucalopride. Found I’d been discharged by gastro again 3rd time. She sent me straight for gastric emptying and the colorectal guy sent me for other motility tests - all confirmed severe slow transit throughout - years after all this started. Still they all blamed neuro sjogrens despite neuro saying I don’t have autonomic neuropathy 🙄

I’ve also had symptoms of mild Myositis for many years but never tested - just told probably neuropathy and functional rubbish. So have been passed about from pillar to post until now finally a new gastro has seen me once last year and confirmed SIBO. I see her again next week in middle of my Iloprost. I know there nothing more can be done but I’ve been steadily losing weight now for 3 years so not great.

My SSc autoantibody points to diffuse with severe GI, cardiomyopathy, pulmonary hypertension and Myositis. I will keep my appointment with prof Denton for now as it’s still 5 months away. Will see what my GP and rheumatologist say. My heart says I’m better off staying away from prof Denton but my head says I need to see the only expert who has other patients with my antibody - knowledge is empowering and only he has the knowledge. X

[Jaq1971 in reply to OldTed60]

we really do I’m so glad I reached out this has given me more than I can put into words for so long I have been asking myself am I going mad I now know I’m not and to know someone else has sine type is reassuring although my friend I truly wouldn’t wish this on anyone please let me know how things go and I will update regularly on my experiences perhaps we can help each other as it’s slightly different and many professionals and people clearly don’t understand this type of scleroderma I send you all of my healing thoughts and truly hope you finally get the recognition and help you need and keep the team you feel safest with xxx

[irishponies in reply to Jaq1971]

I'm only commenting to tell you that I have the same diagnosis: systemic sclerosis SINE. I have lung issues. My gastro issues have increased to the point of needing surgery to create a lower esophageal sphincter, which the systemic sclerosis sine has DESTROYED. I have Barrett's esophagus and major intestinal and nutritional issues. Symptoms began 4 years ago and have been completely dismissed by the medical field as "in my head". I found a doctor to actually do an exam ! Now, 3 endoscopies in the last 6 months have proven it is not "in my head" but now it is very late in the treatment stage. I am being transferred to a university hospital for surgery next month. Finally. The stomach acid, which no longer has an esophageal sphincter to hold it back, has completely burnt my mouth (tongue, cheeks, lips, gums, palate, etc) with 2 and 3rd degree burns. I first reported this to my primary in November of 2019. She never once looked into my mouth. Then in March, 2020, My dentist took photos of the mouth blisters and ulcers but she was limited in any treatments. I still have not gotten a doctor to treat until now. I went to and fired 2 other gastros. This is #3. He is amazing! My sense of taste is GONE. But, the sphincter can be repaired with surgeries and life will go on, with no sense of taste...

[Lyndabickley]

hi Jaq

I have had diffuse scleroderma for about 18 years. It was very sudden when it started and scary but once diagnosed I was started on mycophenalate which began to slow things down. It has affected my gut with swallowing problems and bowel leakage and I have bad contractures of my hands and general skin tightening and some lung involvement. I want to reassure you that once you have a clear diagnosis and get referred to a specialist unit there is lots you can do to manage the effects with medication for swallowing problems and acid reflux and Raynauds, occupational therapy to maintain function and aids for difficulties. I also have a neurosacral stimulator to minimise bowel problems and a mini washout system and inserts to manage my bowels. I have a blue card for parking which is a blessing and claim personal independence benefit (PIP) which enables me to buy things like hand warmers and foot warmers as well as help with cleaning and gardening and DIY around the house and have had some adaptations to my car to help with hands. I hope you will get good specialist help. I have even had some plastic surgery to transfer fat from my tummy to around my mouth to help with appearance and widen my mouth. Scleroderma seems to present with very variable problems but they can often be managed and you can get used to them. I lead a full and fairly active life so hopefully you will too.

[Jaq1971 in reply to Lyndabickley]

Thankyou so much xx

[irishponies in reply to Lyndabickley]

Inspirational story! Thank you.

[trunchalobesity]

I was diagnosed 22 years ago. The prognosis was poor as I had lung disease but I’m still here and well. Modern medicine has advanced so much.

The main thing is to remain positive.

Oesophageal issues are common, often referred to as GERD. These symptoms can be well controlled with medication as can most symptoms.

Please don’t go on line. The disease is multi faceted and will vary patient to patient. Most is out of date and lots are giving advice on alternative and unproven treatments.

Please ask to be referred to a local specialist or Professor Chris Denton at The Royal Free.

There is really lots to be positive about because management and research advance daily x

Best wishes and kindest regards

[Jaq1971 in reply to trunchalobesity]

omg that is who I’m being sent to see by my rheumatologist thanks for your reassurance as I’m terrified

[irishponies in reply to Jaq1971]

Success! A great doctor!

[trunchalobesity]

please don’t be terrified. Prof Denton is a world leader in the field of scleroderma and research. He is also a thoroughly nice man too and his team. All of who are specialists x

Best wishes x

Helen x

[Nw6London]

Hi Jaq, just lending support as a newly diagnosed diffuse cutaneous systemic sclerosis sufferer 😊. I'm 38, in the thick of life with a new baby and feeling positive too. You really are under the best care with Professor Denton's scleroderma clinic.I was very fortunate to have all my tests and analysis done privately after being "lost" in the nhs system when my symptoms started during covid in 2020. I was getting really upset and was convinced I had SOMETHING and it was consuming me - which of course, turned out to be this! Interestingly, my very first bout of raynauds began 10 days after removing my myrena coil of 8 years. (Apparently there is a hormonal element to these diseases.) My rheumatologist was incredibly thorough: lung function tests, CT scan of chest, and bloods for renal and liver involvement. My ANA came back positive for SCL70 and thankfully, I don't have any internal involvement BUT, in the last 6m between my first appointment and my 6m check in, things are progressing quite rapidly and i am truly in active stage. Raynauds, skin involvement and pain in my joints - all increasing in severity over that time . I begin hydroxychloroquine next week and mycophenolate in 4 months after my baby is weaned off the breast at 12m.

It's difficult, and people around you will also be scared and worried. (And that in itself will stress you out because they are also fearing the worst for you! Lol) I try to live by the mantra "control the controllables". It's so easy to get distressed, but you are part of a community who in a lot of ways, have been through it and are going through it. We're all here, in it, together.

One tip I will have for you that has helped me remember and articulate my issues to the medical team is to keep a log of anything strange going on in your body - pictures, dates, details. Prof and the team will appreciate and they can get a better understanding of how your disease could progress by putting you in a similar cohort of patients. Things may seem unrelated and menial, but they rarely are.

Good luck for your appointment! I hope it's soon and you can get more clarity on your condition.

[Jaq1971 in reply to Nw6London]

Thank you so much this group has really helped me already in just a few days I feel less alone xxx my kids are so worried and my husband which sets of my anxiety so having information from people in the same boat has really helped me