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Biomarker for Diffuse Scleroderma skin has been discovered!


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Newbie - with a question (or two)!


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#1 mutsy67

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Posted 30 July 2008 - 05:42 AM

Hi Everyone,
I found your site last March when I had an episode of chest pain with shortness of breath that resulted in an ambulance ride to the hospital. The one symptom that caused me to take the "ride" was that my hands and feet turned "dead" white and then blue. The paramedics couldn't get a pulse out of either wrist or foot (several tried). Since it was Friday and I wouldn't be able to see my primary for a few days I started to google like crazy. Came across Raynaud's and realizing that I'd had similar (but less severe) episodes for years a light bulb went off. And then further links and research led me to Sclero and more light bulbs went off for me.

I have had pain since the summer of 2003. Started in my right hand/wrist and resulted in Carpal Tunnel surgery with three trigger finger releases in Dec. 2004. Didn't do much to help. Kept hounding my primary that something needed to be done as my hands were both becoming useless (lost range of motion and have no hand strength - lots of pain - burning, sharp pain, stabbing pain, aching pain, varied every day).

Got a new primary last fall and she was appalled at the lack of muscle in my hands. I am 47 but my hands look like a little old womans. She referred me for PT (which I had done once before with some improvement). PT was painful. She also found thyroid nodules which after testing resulted in a partial removal of the thyroid (I have Hashimotos).

Hands and feet started burning all of the time during the time I was recovering from the thyroid surgery. I went to a nuero and after tests diagnosed small fiber neuropathy. And recommended a PT person that specialzed in hands as the SFN did not explain the things that were happening with my hands.

The hand PT found nodules on the top of my hand and asked about them - I had no idea how long they'd been there - could have been years for all I knew - I just knew that as the muscles shrank away my hands got all bumpy looking every where so didn't think any thing of it.

So new primary recommed a new rheumatologist. New rheumatologist did x-rays and MRI's of the hands and x-rays of the feet. Shows inflammation and early stages of RA (RA like disease).

********If you are sill with me - here come the questions!************
Bloodwork showed positive results on the ANA to SCL-70 with an elevated titer and a nuecleor pattern. Also positive results for antibodies to Sjogrens.

My doctor doesn't think that I have Scleroderma as there is little skin involvment (I can see it on my pinkie finger of my right hand but the rest of me isn't shiny) My hands are are "thicker" though. When I went in for the carpal tunnel surgery Dec. 2004 I had to take my rings off - two years later I still couldn't get them back on and finally had my wedding ring re-sized. I went from a size 4 to a size 6. I had worn the same ring, same size for 21 years and all of a sudden it wouldn't fit (same with rings for the other hand). I know there can be some swelling after surgery but the surgery was on my Rt hand and I waited two years!

Carpal Tunnel and Thyroid are indicated in Sclero.

I have these nodules on all of my major tendons - fingers, wrists, elbows, ankles, feet heels. No one will say what they are - some are very hard and feel lilke bone others are soft and feel like fluid. No one has biopsied.

My hands are changing shape. My littel fingers "pull away" and my pointer fingers turn in. I cannot straighten my hands or lay them flat - its like the tendons or something have shortened). I cannot turn my hands without horrible pain in the wrists. I cannot make a fist - my fingers don't curl. In the morning I cannot even touch my fingers to my thumb. My hands and feet are both swollen on awakening in the morning but my feet get better in about an hour.

There's more but those are my major things - I need my hands so that's my focus.

1) Has anyone had a similiar experience with blood work without having major skin involvement?
2) I plan on going to GI, cardio and pulmonary even though the doctor didn't think it was necessary - when going without a referral is there anything specfic to ask for - I don't have the diagnosis so what should I say?
3) The rheumatologist put me on 15 mg MTX and then bumped it up to 20mg. because she is closing her practice I had to get a new rheumatologist (adding complications to getting a diagnosis) and the new rheumatologist thought that was too high of a dose of MTX (especially since MTX can cause nodules and I already have so many). So he bumped me down to 10mg MTX along with a daily does of Prednisone - 5mg. Anyway doing anything similiar? Is is succesful?

That's mostly it - thanks for reading - if you have any comments or suggestions of anything that I've missed on what I should be doing I appreciate all advice. I feel like I'm floundering a bit here!

Take good care,
Shari
Shari (AKA Mutsy)

#2 CraigR

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Posted 30 July 2008 - 09:00 AM

It sounds as though your doctor, who doesn't think you have sclero due to lack of skin involvement, has very little experience with sclero (as is the case with most non-rheumatologists). If you read the postings on this site, you will see that there are many different manifestations of sclero - even a form that only effects internal organs. Get to a sclero specialist. Your tests certainly point to autoimmune disease. Positive for Sjogren's is certainly a key indicator - and it is often secondary to other autoimmune/connective tissue disease.

Craig

#3 Sweet

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Posted 30 July 2008 - 10:07 AM

Hi Shari,

Welcome to the Sclero Forums, I'm so glad you've joined us.

I'm really sorry to hear about all the involvement you have. I have to say that it certainly sounds like you have sclero or another auto immune component. If I were you I'd be looking for a second opinion with a sclero specialist. If you let us know where you live, we'd be happy to help you search for one.
Warm and gentle hugs,

Pamela
ISN Support Specialist
International Scleroderma Network (ISN)

#4 Nina

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Posted 30 July 2008 - 10:45 AM

Hi Shari: Welcome to the sclero forums and thanks for posting. It's just amazing how everyone's story is just a little different from others. I think you have received very good advice here ~ I never even know that there was such a thing as a rheumatoligist that specialized in sclero. I hae an appointment tomorrow and intend to ask lots of questions. I've been sick since 2000 and have yet to be diagnosed, even though I hae Raynaud's and GAVE (watermelon stomach). Some days it's pretty hard to move forward, but I figure at least I'm moving.
Hang in there and get to a specialist!
Much love,
Nina

#5 Snowbird

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Posted 30 July 2008 - 10:45 AM

Hi Shari

You've come to the right place for factual information. I agree, you need to see a Scleroderma Specialist/Rheumatologist knowledgeable in Scleroderma. They can run all kinds of tests to help determine what is going on with your symptoms. Sweet or one of the others will be able to point you in the right direction when you give them the area you live in to help you find a good one. Hope you keep us updated on how things are going. Take care.
Sending good wishes your way!

#6 Peggy

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Posted 30 July 2008 - 11:27 AM

Welcome. You have come to the right place. Your history is a little similar to mine in that my first symptoms were peripheral neuropathy of my hands and feet. It started out as a tingling of my hands and feet like they were asleep and then they went numb. Then the numbness went up my legs and I have loss of feeling and muscles from the knees down and the damage continues. It took me a year going from doctor to doctor before I finally found out I had sclero. If you think there is something going on then you have to keep going to a doctor until you find out what it is. If it is sclero and depending on what kind it is there are things that may need to be done to stop the disease from progressing. But first you have to get a proper diagnosis. Everyone is right when they say you need to get in front of someone who knows sclero as it is such a rare disease. I was with a neurologist because of the neuropathy but he still wasn't satisfied with all of the puzzle pieces that didn't fit so he had me see a rheumatologist who is a sclero specialist. She came in the room and immediately diagnosed Sjogren's, which I had no idea that I had I just thought I was thirsty all of the time because I never took the time to drink enough water. She then saw the tight skin and did a skin biopsy and it proved sclero. I also had the blood work which confirmed it too. So please take their advice and find a sclero specialist in your area and get an appointment. If you do have it then you have come to a great place to come for advice and support. Everyone here is fantastic and I don't know what I'd do without them.

I wish you good luck and please let us know how you are doing and what you find out.

Warm hugs,

Peggy

#7 smurfette

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Posted 30 July 2008 - 03:56 PM

Shari--
I cannot give you any advice about meds. I have never even heard about the meds that you are taking, but that does not mean anything because I do not have the same issues as you. You have gotten some misinformation, from what you report, and it is important to find a good doctor to take control of your situation to get you on the right path as soon as possible.

You are certainly full of questions that need to be addressed by a rheumatologist who is an excellent diagnostician. I have scler. without any skin thickening and so your primary would not know that I have the disease. I have positive ANA and have esophageal complications as well as other internal issues.

You can, as you will see once you read information on this board, have more than one autoimmune disease at once. The issue for you at this time is to find a doctor who can sort out what is going on with you so that you can start on a proper treatment plan to control those things that can be treated and controlled to make you as comfortable as possible.

I do not know what your insurance requires, but if you do not need a referral for insurance purposes you can use the resources of this board to find speciaists to assist in your treatment plan and get moving toward feeling better. There is no reason to be in discomfort any longer than necessary. This board has a wealth of information to help you find the right doctor. Good luck and feel better soon. I hope you find the right doctor.
Smurfette

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#8 janey

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Posted 30 July 2008 - 04:44 PM

Shari,
Sorry to read about everything you are going through. Having physical problems is bad enough without having to deal with inexperienced doctors and the whole system of referrals. We do have tons of pages of information about scleroderma and other autoimmune diseases. I am no doctor and have no medical background, so please do your own research and consult with you doctors about all of your symptoms.

You mentioned your hands. Hands are a classic symptom of scleroderma, but the amount of involvement varies tremendously from one person to another. Here are some pictures of the extreme case sclerodactyly in scleroderma. Some cases people, such as me and many others, deal with swelling of the fingers, a slight curve to prevents us to lay our hands flat, and weakness. I don't experience the pain that you do, but many do. The only skin thickening that I ever had was on my fingers and hands, but that softened once I was put on MTX and 5 mg/day prednisone. We do have a section on methotrexate and scleroderma. MTX is an immune suppressant and is one of the first line drugs for many rheumatic diseases such as scleroderma. It worked for me right away. My disease was progressing very fast and it slowed things quickly. I was on it for 3 years, the last 2.5 years I was taking a 25 mg injection once a week. I was taken off because I developed pulmonary fibrosis (due to scleroderma and polymyositis).

A good rheumatologist should know that you don't have to have skin involvement with scleroderma. It's called scleroderma sine scleroderma (sclero without hard skin). I certainly can't say one way or another if you have sclero, but due to your variable symptoms I, like the others, would highly recommend finding a good rheumatologist and possible a scleroderma specialist. We do have a list of doctors if you need help. Just let us know.

I'm glad that you decided to join us. As you've already seen it's a great group of people - lots of support, knowledge and experience. Please keep us informed on how you are doing and your doctor appointments.

Big Hugs,


Janey Willis
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(Retired) ISN Assistant Webmaster
(Retired) ISN News Director
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International Scleroderma Network (ISN)

#9 susie54

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Posted 30 July 2008 - 05:32 PM

Hi Shari,

You certainly are liking reading what has happened to me over nine years. I have Mixed Connective Tissue disease with sclero/lupus mix. I have hands very similar to what you described, thyroid nodules (surgery in a couple of weeks), carpal tunnel in both wrists(one of first symptoms), peripheral neuropathy (my first symptom, numbness and tingling). It took me four years to get a diagnosis and still because I don't have skin thickening , they just don't want to see the sclero.
I agree with all the others and I hope you find a good rheumatologist. They are treating you at least and that is good. Welcome aboard and sorry you have to put up with all of this but you have found a great place for friends and help. Susei54

#10 JJ-Knitter

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Posted 31 July 2008 - 10:20 AM

Oh Shari! Have you come to the right place.

I have the form of sclero Janey was talking about: systemic sclerosis sine scleroderma.

It took a while to get diagnosed and how that happened was that I was able to go to a major center where they did PFT's, Chest CT and X-Rays, tons (OK, gallons of blood work), esophageal and larynx studies, 24-hr acid reflux study, bubble and regular echocardiograms, nuclear studies for lung diffusion and I forget what else.

So, my diagnosis was based on high ANA with nucleolar pattern, teleangectasias, capillary dropout on my fingers, observable Raynaud's, lung fibrosis, pulmonary hypertension, evidence of GI involvement, and a history of muscle and joint pain.

Once I hit the major center and they did the complete work-up described, diagnosis didn't take long - just 3 months from 1st appointment to getting the diagnosis. The rheumatologist I see has a particular interest in this form of scleroderma so once he saw all the other stuff that was going, I guess the diagnosis was pretty much a given.

I agree with the others - finding the right doctor is the key.

Warm and gentle hugs! And best of luck, of course. :)

JJ

#11 eah

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Posted 31 July 2008 - 05:28 PM

Hi,

I have sine sclero with no skin involvement. I had post. blood work, gi symptoms, trouble swallowing, raynouds, carpal tunnel first, overwhelming fatigue, lung nodules, thyroid nodule, dry eyes, mouth, etc. You really need to see a rheumatologist who specializes in sclero. The symptoms can be managed with meds. Most of the people I know have had sclero for years and are able to manage it with a good doctor and the right combination of meds that work for them. Good luck.

EH
ANN

#12 mutsy67

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Posted 01 August 2008 - 04:55 AM

Hi to all!
I have to say that I feel overwhelmed by your support and messages - thank you! I'm glad to have found you all - you are an inspiration.

I live in Phoenix, AZ.

I had a rheumatologist that I liked from May to July but she is closing her practice - I thought she was doing a good job (at least she listened and did the bloodwork to get me this far) but she told me that I do not have Sclero but am predisposed for it. She only referred me to a GI. She did not do the nail-fold capillary tests which seem to be a pretty predictable test - right?

So the new guy that I went to this week reduced the MTX by 1/2 and added 5mg of Prednisone. But also won't give me a diagnosis and is making me wait six weeks and then he'll repeat the bloodwork that was already done.

I'm trying hard to be a patient patient but too many so-so doctors in my past that got me here so I guess I've gotten jaded.

The only doctor/clinic that I can find reference to in the Phoenix Metro area is at the Scottsdale Mayo clinic. I went to Mayo clinic in 2004 spending $3,000.00 out-of-pocket because they are not on my insurance (United Health Care) and he told me to try bio-feedback and counseling!

I saw a cardiologist yesterday and he thought I was fine but is doing a stress test next week just to be sure.

I see a Pulmonologist next week.

I see a GI the week after that.

But I've made these appts on my own as neither rheumatologist thought they were necessary AND none of them are sclero experts! I've spent a million (okay maybe only 1/2 a million) hours on the internet researching this and doctors and I feel that I am going to waste time and end up five people telling me it isn't sclero and then when I try a new doctor they'll think I'm just 'doctor' shopping and will confirm the non-diagnosis.

Okay - obviously I need another cup of joe (my vice).

Thanks again for caring - it means so much. Any direction on how to find experts is SO appreciated!!
Shari
Shari (AKA Mutsy)

#13 Sweet

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Posted 01 August 2008 - 05:01 AM

Hi,

The sclero experts in your area are at the Mayo Clinic. Sounds like you've already been there. I will give you the info. anyway, in the event you didn't see any of the doctors listed below.

Arizona:
Institution: Mayo Clinic Scottsdale
13400 E Shea Blvd
Scottsdale, AZ 85259

Coordinating Investigator: Leroy Griffing, MD
Lester Mertz, MD

Telephone: (480) 301-7105
Fax Number: (480) 301-7558
Warm and gentle hugs,

Pamela
ISN Support Specialist
International Scleroderma Network (ISN)

#14 truman

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Posted 01 August 2008 - 05:10 AM

Shari:

There are really not many Sclero experts anywhere. What I have found are doctors in various fields who are willing to listen and learn. I've had two doctors who knew basically nothing about the disease ask me to explain it and in turn they informed their staff to get on the internet and learn as much as possible about CREST and Scleroderma. Over the months with these doctors I have found them to be more knowledgeable; I guess because they now have a "live specimen" to work with. Nothing like hands on training. I'm comfortable with it, because I am my own advocate, I know my body and the doctors understand that and would prefer to hear as opposed to guess when it comes to me. I do find, for some reason, that nurses are more aware of the condition. I still find it amusing when a new nurse comes on the scene and the doctor asks if I would please explain the meaning of the letters CREST. :rolleyes:
Tru

It is what it is...........