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Biomarker for Diffuse Scleroderma skin has been discovered!


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My daughter and I have Deep Morphea and other complications.


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#1 HayleyW

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Posted 23 January 2013 - 03:49 AM

Hi

I have had Deep Morphea since I was 1 years old (diagnosed by biopsy at 10). To cut a long story short, since the birth of my daughter 7 years ago, my health has been in rapid decline. Where previously I only had the morphea on my abdomen and one thigh, I now have it on various parts of my body and some areas are subject to flare-ups and can become quite painful. I have been steadily getting worse with joint pain/fatigue/Raynaud's over the last three years, which became extremely acute approximately 18 months ago when I was pregnant with my third child. My health care has been, shall we say, less than adequate (apart from my general surgeon who is treating me for GI muscle problems) and I became so sick of it that last week I paid privately to see one of the consultants mentioned on the site as knowing about Scleroderma. She was fantastic, stated that she thought I had arthritis, needed a barrage of tests (including the ones my other consultant has arranged for my GI problems and to see how active the Deep Morphea is as it doesn't appear active on the surface, but the fact that it keeps causing me pain indicates it most likely is) and is writing to my general practitioner to ask that I am referred to her at one of the London hospitals as a NHS patient.

Obviously, I am expecting a fight with my general practitioner to get this, but I feel it is especially important as my daughter was also diagnosed with Deep Morphea by a dermatologist when she was 3. She has bowel and bladder problems, which she sees a specialist nurse for, but I am now wondering whether they coud be linked to the scleroderma. Does anyone have any experience of this? From having done some research, I keep reading that scleroderma isn't inherited, but in this case it clearly is. To make things even more interesting, my one year old has a raised patch of skin on his face which I was told was a fatty deposit and would go within a few months. It hasn't and it does look suspiciously like morphea to me, although I am no expert.

So, really I am just posting to say "Hi", wondering if anyone has any thoughts on this and whether it would be unreasonable to ask my general practitioner for myself and two of my three children to be referred to the London hospital considering the fact that the rheumatologist I saw locally didn't even seem to know what Deep Morphea is!

Many Thanks

#2 Joelf

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Posted 23 January 2013 - 01:14 PM

Hi Hayley,

Welcome to these forums!

I'm sorry to hear that you are suffering with Deep Morphea and that prior to going privately you didn't receive good treatment from your general practitioner. As you've surmised, the average doctor knows very little, if anything, about Scleroderma and it's idiosyncrasies and especially such a rare form as Deep Morphea.

I don't think, having already seen a Scleroderma expert and been advised by her, that it would be at all unreasonable to request a referral for yourself and your daughters, although you may find that there might be some opposition from your general practitioner. Hearing other members' experiences I consider myself to have been very fortunate with the treatment I received on the NHS, from everyone including my doctor to the top lung specialist and Scleroderma expert to whom I was referred. It is very important to be your own advocate, though and be prepared to insist that you are dealt with by someone who understands this complex disease and also to arm yourself with knowledge of the disease as well. Obviously, it's possible that your daughter's bowel and bladder problems could be linked to Scleroderma; however, as I'm not medically trained, I can only suggest that if and when your daughter is able to see a Scleroderma specialist, he/she might be able to advise you further on that.

I've included a couple of links to a thread about Deep Morphea and to one of our Personal Stories help you and give you some more information.

Please do keep posting and let us know how you and your children get on with your referrals.

Kind regards,

Jo Frowde
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#3 Amanda Thorpe

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Posted 27 January 2013 - 06:48 AM

Hello Hayley

Welcome and boy oh boy have you got a lot on your plate! Firstly scleroderma is not considered hereditary however there is a subset of scleroderma, Familial Progressive Systemic Sclerosis, a rare form which runs in families, BUT it is a systemic form of scleroderma not a localised and deep morphea is localised so telling you that may not actually help you although it answers your question.

About 25% of morphea patients will have at least one extra-cutaneous (non-skin) manifestation, and less than 4% of morphea patients will develop more than two non-skin manifestations. This means you can have say fatigue and reflux in addition to your deep morphea without having systemic scleroderma and having symptoms outside of skin involvement does not mean that you are developing the systemic form of the disease because morphea cannot and does not progress into systemic scleroderma.

Scleroderma can affect the bowel so maybe your daughter's non cutaneous symptom is bowel involvement? Just a guess from a non medical layperson and you definitely need to see a scleroderma expert. It would be totally wrong for a general practitioner or any other doctor to refuse referral to a scleroderma specialist when they have no idea how to treat you/your daughter because such referral would therefore be detrimental to your/hers health. Maybe they do a family day and you can all go together!

Hava a look at our videos bout scleroderma.

Take care and let us know how you get on.
Amanda Thorpe
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#4 HayleyW

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Posted 04 February 2013 - 10:27 PM

Thank you for the posts. I saw my general practitioner yesterday who was absolutely fantastic - I don't know whether to marry him or adopt him! He listened to everything, was supportive and took away the folder of info I brought with me in case I needed to argue my point just so he could research the condition further. He has referred me to the Royal Free and my two youngest ones. He has also referred my eldest - although he hasn't got Scleroderma, he has a lot of other conditions and it's best to rule out any autoimmune connection. Needless to say, wherever possible, I will be seeing this general practitioner. It was so good to walk out of a consultation and not be made to feel like I'm a nut-job! Phew .....

#5 Joelf

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Posted 04 February 2013 - 11:59 PM

Hi Hayley,

I'm so pleased to hear that you've had a satisfactory appointment with your general practitioner; it quite restores our faith in the NHS!!! The Royal Free Hospital is a centre of excellence for Scleroderma, so hopefully you should now be able to feel that you're in competent hands.

Kind regards,

Jo Frowde
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#6 Shelley Ensz

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Posted 08 February 2013 - 08:08 PM

Hi Hayley,

I just want to say Welcome to Sclero Forums! Jo and Amanda have given you great information and I really can't add to it. I am glad you have gotten referrals to a scleroderma expert for yourself and your children, and I hope that they are able to answer your questions, all the way around.

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Warm Hugs,

Shelley Ensz
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The most important thing in the world to know about scleroderma is sclero.org.

#7 Amanda Thorpe

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Posted 14 February 2013 - 08:26 AM

Hello Hayley

 

A family outing to the Royal Free eh? Novel I guess. Will you take a pic nic or eat in?

 

Seriously this is the best news for all of you, you will be surrounded by experts and receive the best possible care, let us know how you all get on.

 

Take care.


Amanda Thorpe
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#8 HayleyW

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Posted 30 June 2013 - 01:53 AM

I had my first appointment at the Royal Free on Thursday (and saw the lovely Kim at the stand there). My current diagnosis is Undifferentiated Connective Tissue Disease, pending the results of all of the tests.

 

I have started taking Hydroxychloroquine daily until I go back, when the treatment may change depending on the diagnosis.

 

Quick question: if anyone else has taken these, have they made you feel really, really nauseous? And if so, how long does it last and have you found anything to be helpful? I am feeling really yuk here and whilst I want to persevere with the meds, I really can't cope with this nausea for long - it feels like morning sickness (which it definitely isn't)!



#9 Amanda Thorpe

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Posted 30 June 2013 - 07:36 AM

Hello Hayley

 

I had 3 tries at plaquenil but it was abdominal pain that made me give it up. Pity really as I noticed a 30% reduction in fatigue and pain! I took it for a good few months before the side effects started and as I said I kept trying it but to no avail.

 

Nausea is a known side effect of the drug, have a look at WebMD for a more comprehensive list. All drugs have side effects and some are scary for sure but the reality is most of us tolerate medication well and only experience the common side effects.

 

Persevere with the plaquenil because it could work really well for you although I do know how draining nausea can be having just recovered from a bout of it! You could always telephone the scleroderma specialist nurses at the Royal Free and ask if they can suggest anything to help alleviate the nausea:

 

Royal Free Hospital

Scleroderma queries:

020 783 02326

 

Let us know how it goes and take care.


Amanda Thorpe
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#10 HayleyW

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Posted 30 June 2013 - 10:46 AM

Thanks Amanda - I'll see how I get on and if I still feel sick tomorrow, I'll give the nurses a call. It's pretty much worn off now, but as I'm taking it at night, I have a feeling it may hit tomorrow :(