My sister is convinced she has Scleroderma and it is affecting her life

My father died from systemic scleroderma 4 years ago and his identical twin also died of the condition a few years before my father. My sister who is 37 has been diagnosed with Raynards (which my father also had) and is obsessed with the look of her hands. Her hands have become covered in lines and they have a shiny appearance. She has visited the doctor many times but they have told her there is no test for scleroderma. This is ruining my sister's life and I am unsure how to help her. My sister rarely visited the doctor before being diagnosed with Raynards. If anyone has any advice in how I can help my sister I would greatly appreciate it. Thank you

8 Replies

  • Of course there is a test for Scleroderma. There are blood tests, this is how my rheumatologist determined that I had Scleroderma. My GP did not take any notice of me either when I went to him for more than a year with problems with painful legs. I could hardly walk by the time I managed to see a rheumatologist. It was the surgeon who performed a Carpal Tunnel operation on my hand who realised and referred me. My hands were very painful, swollen and my skin was shiny. This is one of the signs of Scleroderma.

    Your sister needs to see a rheumatologist to get tested. She may be worrying for nothing but she does need to set her mind at rest by being tested. With Scleroderma there are usually other symptoms as well but it has to start somewhere. Also, Raynauds is often one of the first symptoms.

    She can find a lot of information online. The Royal Free Hospital in London specialises in Scleroderma. If she cannot get any help from her own doctor maybe she could contact them and they will advise her further. It is a very frustrating feeling that you may have a serious illness and are not being listened to by your doctor. A doctor should realise that someone who hardly ever went to the doctor and then suddenly starts going on a regular basis may really be ill.

    Another problem that I found is that because the NHS has told doctors not to order blood tests, etc unless the patient appears to be very ill, they do not seem to actually take any notice when you go to them. This is a problem that used to have me almost in tears for months when I went to my doctor.

    Maybe you could contact the Scleroderma Society direct. They may help too.

    Another thing I found out is that most GPs do not know anything about autoimmune illnesses. This is not a good situation for people who have to go to them as the first resort.

    Hopefully your sister has not got Scleroderma but she needs to know. I hope she finds a doctor soon. I send her my best wishes.

  • I printed a photo off the internet and showed it to the doctor who had to agree that it was a match and finally organised an appointment with dermatology who then transferred me to a scleroderma specialist. I also get the feeling that it depends on where u live as to what treatment you get, I have had to travel to B'ham for treatment as it seems to be the big city hospitals that have the specialists. Good luck and keep at it, if I had listened to my first doctor I would still be waiting.

    Best Wishes.


  • I would very much agree with the reply above but would add that blood tests are not %100 conclusive & a good Rheumatologist will consider symptoms equally. The disease is not hereditary but I'm sure your sister knows this. It doesn't stop the worry. It won't help having an unsympathetic doctor either. I do hope she gets some answers soon. Please pass on good wishes, as well as the Scleroderma Society Helpline 0800 311 2756...if a chat would useful.


  • I have Systemic Sclerosis and have done since I was about 11 I think. I am now almost 70 so it is not a death sentence by any means, but your sister certainly needs to follow up and get some sort of diagnosis. I had my first Oesophageal involvement when I was a child in the 1950's and although I had a Barium Swallow Xray nobody could say why it happened. Then when I was 22 I developed Raynaud's Phenomenon with nail bed involvement. again nobody knew why and this was in 1967 and 68. It took until 2003 when I was admitted to hospital that finally I was diagnosed. Since then I have found that every year there seems to be more information and treatment available.

    The advice to contact the Royal Free in London is good advice. I have internet friends in London who have good things to say about them there. Try looking at the International Scleroderma Network ( and you will find the name and address of the nearest Sclero Expert to where you live.

  • Hi melwoolgar.

    One of the most difficult things for me was getting the GP to realise that I needed help. In fact, the reason I got referred to Rheumy was because I went in and demanded it. Sclero is not something that can be tested for in the same way as many other conditions. It is diagnosed in conjunction with various tests results and observations (like the shiny skin you mention) There is no one single test - so in that respect the doctor is correct (If a little pedantic to be saying that)

    If the GP is not interested in helping your sister, then try demanding a referral. Maybe take some printed literature in with you, to show why you are concerned about her condition. Do you have more than one GP at her practice ? Is it worth asking to see another Doctor if there is ?

    I wish you luck with whatever you decide to do.

  • Your sister may need to be referred to a Rheumatology Specialist. I was diagnosed with primary Raynauds and it took me years before I saw a specialist and it was only because I requested that I be referred. He then took blood tests and then diagnosed me with Limited Cutaneous Systemic Sclerosis.

    If I hadn't requested a specialist, I would still be unaware of my underlying illness.

  • Hi Mel. Agree with the above posts. You can get tested to see if you have the marker and to definitely confirm it's SSc not just raynauds they'll take the symptoms in to consideration. The Royal Free people can do a simple test by looking at the capillaries in the cuticles to confirm if its SSc as they look different in scleroderma patients. I was fascinated when they did mine. My mum was diagnosed with SSc after my gp recognised she had similar symptoms to me and sent her off to get tested. So hopefully your sister will get an answer. They look for a marker, s or r 74 I think. You may even be a carrier but maybe it hasnt developed in you. Usually triggered by puberty or the menopause from what I understand. Wish your sister all the best from me. I hope she gets the diagnosis soon and starts treatment. Claire x

  • Just to add (sorry on a bit of a roll now), regardless of whether the gp thinks she has or hasn't got scleroderma (which seeing as your dad had it would seem feasible), she needs to be seen by a rheumatologist to ensure that her raynauds is treated properly. If it isn't she could end up with digital ulcers which, believe me, are a nightmare. Sadly these days you have to really fight for doctors to do anything. All the best to you both xx

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