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Biomarker for Diffuse Scleroderma skin has been discovered!


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#1 vancitymissy

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Posted 29 August 2013 - 09:31 AM

Hi Everybody,

I have not been diagnosed yet, I am new here, this is my first post. I am female and 40 years old. I haven't felt well for several years. Extreme fatigue has been a constant. After 3 miscarriages in a row I finally had a healthy boy 2 years ago.

Then last summer I started getting sore hip joints. A constant achy feeling. Dry red eyes and throat soon followed. My husband thought it was pink eye. After a few months of the dry eyes I saw an opthalmologist. He gave me eye drops. Went to primary care physician, told these symptoms were nothing.

In April of this year I noticed my pointer finger joint closest to my fingernail was very sore. Thought maybe I hurt it somehow. I was also having difficulty picking up small things like popcorn. Then one day I noticed a red flat rash at the nape of my neck so off I went to the dermatologist.

She told me my rash was a birthmark. I told her it is not a birthmark. I mentioned the sore finger joint and I asked if she could run some blood work. I was thinking maybe this was Lupus. She didn't want to run tests but I insisted.

My ANA came back 1:160 positive nucleolar. My ENA including SCL-70 was negative. My RA factor came back at 14 which is indeterminate. CCP negative. CRP negative. My neutrophils and my WBC are way below normal though.

I called my doctor for those results and she said everything was normal. But I didn't feel normal.

In June both PIP pinky finger joints became red and swollen. I also started getting all over body tingling.

By July food started getting stuck in my throat. My shoulder blade/upper arms have gotten really weak too and I can barely keep my arms up for long. I am also noticing my toes feel different. Sore when I stand up. My hands and feet and nose have been cold for several years although I do not notice color changes.

Over the past 2 weeks I notice my face feels tighter and my skin has become dry. I have never had dry skin before. I also notice that over the joints on my toes the skin has become hard and dry looking.

Back to my primary care physician I went last week. I told her of the new progression of symptoms. She said that lots of people have a positive ANA and are healthy. I flat out asked her what she thought this could be and she barked at me and said that she had no idea because I have too much going on with me! I told her that a positive ANA would not concern me too much except that I AM having symptoms.

It was at that point that I asked for a referral to a rheumatologist. I am also going to be looking around for a new family doctor. I just wanted to come on here and introduce myself. I am from Vancouver BC Canada.

I am terrified of a diagnosis but I know that whatever is happening is happening fast. If anyone has any advice on what I should be doing or asking at the rheumatologist I would really appreciate it.

Hugs.

 

 
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#2 Shelley Ensz

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Posted 29 August 2013 - 12:06 PM

Hi Van City Missy,

 

Welcome to Sclero Forums!  I'm sorry you are experiencing some health issues, and send my best wishes to you.

 

I am sure others here will reply with many ways to prepare for your appointment. What I would caution is that it is an average of six years from the onset of symptoms to diagnosis for women with systemic scleroderma. It is only very rarely rapidly diagnosed.  In fact, prompt diagnosis is so rare that we about fall off our chairs when we hear of people diagnosed within a few weeks or months of getting sick. So my input right now would be to really put a damper on your expectations from any single rheumatology appointment, as I think lupus and Sjogren's have an equally long period between onset and diagnosis.  In general, autoimmune diseases tend to onset and develop very slowly, and they share many similar symptoms and even antibodies. So the good news and the bad news both is that such illnesses tend to mosey along at their own pace and unfortunately there's not very much you can do, in any way, to speed up the process.

 

I do know how discouraging that seems. But many of us enter this fray expecting immediate answers and treatment, and that simply is not the reality for the vast majority of us. Anyway I am sure you will get lots of responses, more helpful than mine!  I just want to extend a welcome to you.

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
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International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

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

#3 msjess

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Posted 29 August 2013 - 03:10 PM

Hi Missy,

 

I'm sorry to hear of your multitude of symptoms. I can commiserate with your situation, as I am undiagnosed (ANA+ 1:640 homogeneous, with highly positive anticentromere ) as well. I hope a rheumatologist is helpful in sorting out your diagnosis. In the meantime, this board/website is a plethora of information and is very supportive when you have questions or need to vent.

 

While nucleolar pattern tends to point to scleroderma diagnosis, I wonder if it shows up sometimes in mixed connective tissue disease? Here is a link to some of the information available here. http://www.sclero.or...ase/a-to-z.html

 

I wish you the best of luck in getting to the root of your health issues. And, as I have read from helpful contributors here, it is extremely important that you get copies of all your medical records to review, and don't be afraid to ask questions of your health care providers.



#4 Joelf

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Posted 30 August 2013 - 04:17 AM

Hi Van City Missy,

 

Welcome to these forums!

 

I'm sorry to hear that you've been having some worrying health problems and can sympathise, as I think the fear of the unknown is very often worse than the disease itself.

 

Unfortunately, as Shelley has advised, the diagnosis for autoimmune diseases such as Scleroderma and Lupus are by no means straightforward and I've included a link to our medical page on difficult diagnosis which also includes one of Amanda's super videos. I hope that when you get your referral to a Rheumatologist you will perhaps get a little further along on the road to a diagnosis and that you'll also receive an explanation of the symptoms from which you're suffering.

 

The good news is that now that you've found our forums and joined our community you will have access to a wealth of help, information and support.

 

Kind regards,


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#5 vancitymissy

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Posted 30 August 2013 - 08:50 AM

Thanks for your reply Shelley and for your helpful information. I am coming to see that it will take some time to figure out what's going on so for now I will take my latest labs and a symptom list with me to any new dr's. Thank you so much for the welcome, and while I am terrified and frustrated I am really happy that I found such a wonderful place to come to.

 

Have a great day.



#6 vancitymissy

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Posted 30 August 2013 - 08:54 AM

Thanks msjess. Terribly sorry that you are still in limboland as well. I hope everything will come back clear for you. Have you seen a rheumy yet? Thanks for the link, I will go have a look at it. And yes, I will take all my labs and a symptoms list with me to any new appointments. Happy to have found you all.

 

Hugs.



#7 vancitymissy

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Posted 30 August 2013 - 08:58 AM

Thanks for the welcome and for all the info Jo.

 

I will go have a look at some of the pages here for sure. You are so right in that in a lot of these kinds of diseases symptoms often mimic each other. I WILL try to be more patient although it is not a strong suit for me. LOL! I hope you have a great day Jo. Happy to have found you all.



#8 Shelley Ensz

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Posted 31 August 2013 - 10:16 AM

Hi VanCityMissy,

 

If you're like me, you're probably in a great hurry to master the fine art of patience!  :emoticon-dont-know:

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

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

#9 Amanda Thorpe

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Posted 04 September 2013 - 05:44 AM

Hello Vancitymissy

 

I am one of those rare people who had rapid onset and quick diagnosis, mind you I had tight skin most everywhere so the cleaner could have diagnosed scleroderma! I also have a friend who had rapid progression and quick diagnosis, the downside is that we've had quite a bad time of it. It was nearly lights out for me in 2010 and my friend shouldn't even be here anymore! It seems that rapid progression brings severe disease with it.

 

Some people have blood work positive for scleroderma but never develop any symptoms indicative of it and vice versa, my blood work is and always has been negative but I have diffuse systemic scleroderma. Either way Shelley's right, your journey to diagnosis/no diagnosis could be a long one and worrying about it won't speed things up.

 

In the meantime be organised and keep copies of all your blood tests, any other tests, consultants letters etc. so you have everything to hand should you need to refer to something, don't assume the hospital/doctors will have all your records to hand! You might find it helpful to keep a record of symptoms as well but not in an obsessive kinda way, you don't want to be writing down every little twinge and fretting over it, if you can't do it without obsessing don't do it. Stress is no one's friend don't make it yours!

 

Take care and keep posting.


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#10 Shelley Ensz

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Posted 06 September 2013 - 07:42 AM

Hi VanCityMissy,

 

I rather doubt anyone could be more exquisitely succinct than Amanda when she just said, "Stress is no one's friend don't make it yours!" I just googled that slogan, and it seems you heard it here first, folks!

 

We should make t-shirts and bumper stickers out of that, as there are probably a few billion of us on this planet who are entirely convinced that stress is our best friend. Otherwise, why would we hang around with it all the time, eh?

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

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