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Trying to get a diagnosis.

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#1 yvette1978



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Posted 28 April 2014 - 10:39 PM

Hi all,

My name is Yvette and I am new to this forum.  My mum had progressive systemic sclerosis scleroderma, she was diagnosed at 28 and gradually lost all of her mobility until she died at 42.  She had the classic facial mask and claw like hands, all internal organs were affected, she suffered a lot.


I am now 35 and have a serious aversion to doctors! I have suspected for years that I have Raynaud's, fingers turn white in the cold and become very painful.  Recently I have had problems breathing, and my fingers have been going purple even when it is hot. 


I am in Algeria at the moment, so I made an appointment with a heart specialist as I thought it could be heart related.  I had an ECG and an ECHO done and both were fine, however when the doctor took my history he said my symptoms are of an auto immune disease and likely that I have secondary Raynaud's rather than primary.


The health care here is not brilliant, and so far I can't even find a doctor who knows anything about autoimmune diseases let alone test for one! I will be back in the summer to the UK, but I think it is just as difficult to get a diagnosis there too.


My symptoms include:

joint pains, knees hips, finger toes, shoulders, not all at the same time, sometimes severe and sometimes not

extreme tiredness

poor circulation, swollen feet and legs, varicose veins


problems breathing, dizziness



When I have done some research I think my symptoms mirror lupus more than scleroderma, can any one help with some advice on getting a diagnosis, anyone else have a parent with scleroderma and then get diagnosed?  We were led to believe that it is almost impossible for a mother and a daughter to get this disease!



#2 Joelf


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Posted 29 April 2014 - 08:16 AM

Hi Yvette,


Welcome to these forums!


I'm sorry to hear that you have concerns about possibly having Scleroderma and it must be doubly worrying to have had a close relation suffering from it. We do have a medical page on Genetics and there is a section on Familial Progressive Systemic Sclerosis (FPSS)  which I hope you'll find interesting.


Although one of my simple pleasures is telling my long suffering medical team how to do their job, I actually have no medical training, so obviously can't tell you whether your symptoms do relate to your having Scleroderma; I would point out, however, that Scleroderma is notoriously difficult to diagnose not least because it affects everyone differently. I believe the average time for a diagnosis to be made is six years and it is usually made after a series of blood tests in conjunction with a study of the clinical symptoms presented. This is necessary as the results of blood tests are far from conclusive and it is perfectly possible to have positive blood test results and yet never develop the full blown disease and vice versa, as many of our members can testify. To make things even more confusing it is possible to have the symptoms you describe which could relate to any number of health problems.


I'm afraid I'm unaware of the procedure in Algeria, but would imagine your first port of call would be your doctor. This would also apply in the UK and whereas a diagnosis can be reached after the above tests, we do recommend that our members, if possible, consult a Scleroderma specialist in order to receive the best treatment available.


Please do keep posting and let us know the results of any further testing.


Kind regards,

Jo Frowde
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#3 Amanda Thorpe

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Posted 30 April 2014 - 03:27 PM

Hello Yvette


Welcome to the forums and I am sorry your mother died from scleroderma I am also sorry she lived with it.


Scleroderma is not considered a hereditary disease but there is a hereditary form of it as Jo has explained. Bizarre eh? Not more bizarre than this disease though!


I don't know how quickly your mother got a diagnosis but it can take years (average for women is 6yrs, 3yrs for men) to get diagnosed, there are so many possible combinations of symptoms and their presentation that you may have scleroderma and it may take a few more years before this becomes clear. Of course as a non medical lay person I have no idea whether you have scleroderma or not.


Have a look at our videos, symptoms of scleroderma and diagnosis of scleroderma, and I also suggest seeing a scleroderma expert.


I hope you find support on the forums and the information you need on the rest of the site.


Take care and keep posting.

Amanda Thorpe
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#4 Shelley Ensz

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Posted 29 May 2014 - 09:37 AM

Hi Yvette,


Welcome to Sclero Forums.  I'm very sorry that your mum had scleroderma and that you have health concerns, as well.  In addition to all the good info and links that Jo and Amanda have provided, I'd like to throw in my two cents worth.


Although it is rather rare for systemic sclerosis to run in families, it is quite common for people to inherit a tendency to develop any autoimmune disease.  It is not at all uncommon for close blood relatives of people with scleroderma to develop one or two symptoms of any autoimmune disease, or even another full-fledged autoimmune disease.  Interestingly, many of them just develop a symptom or two, without ever suffering from full-blown or severely progressive disease (such as your mum had.)  I may be wrong, I often am, but I think the figure is that about 30% of relatives are prone to an autoimmune symptom (or two) or disease.


So the good news is that you are less likely to get full-blown systemic scleroderma (like your mum).  The bad news is that you obvioiusly already have some health issues to deal with -- and worse yet is that they might stay "mild" enough (comparatively) that you might never "achieve" a full diagnosis of any particular autoimmune disease (such as scleroderma or lupus, or whatever).


It can be very hard to come to terms with the very long diagnostic process -- which about 50% of the time leads to no specific connective tissue disease at all! -- and of course very unpleasant to contemplate an outcome such as your mum's.  Also, there's no telling what might happen.  Many people experience slow or sudden improvements even (or especially) with scleroderma, due to its natural course of waxing and waning.


What I'd suggest for you?  Regular follow-up by your medical team.  Never skip out on an annual physical, even if you are feeling better at the moment. This way you can have a chance to catch any developments early on.  Also devote yourself to doing everything possible to improve your ability to relax and refresh yourself.  Depression can cause widespread physical pain (something many people are not aware of) so at this point it is most likely to be interfering with your quality of life.  Make a point to hang around people who are overcomers and study how they have become so resilient. Get and keep a steady supply of a support network for yourself.  Such as Sclero Forums! 


Just use your Sclero Forums experience to mine some of the healthy attitudes that you can use to cope with your health and your family medical history; try to avoid using it like a hypochondriac might, to dwell on every little new "thing".  Please take care of yourself in every possible way, and know that you are always welcome here. You have a very special tie to this community, given your mum, and we are always here for you.



Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
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