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Sister just diagnosed--looking for answers


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#1 aridge

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Posted 11 June 2009 - 08:11 AM

Hello! Last year my sister received a positive ANA after seeing a doctor for fatigue and severe joint pains in her toe, foot and wrist. At a recent follow up with a rheumatologist he ran more detailed blood work and it came back with a positive SCL-70 antibody, so he diagnosed her with Scleroderma. From there she went to a cardiologist, gastroenterologist and pulmonologist (echo on heart was normal), but the spirometry test done by the pulmonologist found that she had a 64% dclo and 74% total lung capacity, which suggested she already has mild lung involvement or mild restrictive lung disease. She was a smoker and quit the day she found out about this. Could the smoking have caused the lung tests to be off?? And she has GERD disease (acid reflux) and inflammation in the stomach.

We have an appt at the Scleroderma unit at John Hopkins on June 22nd. But in the meantime, can anyone with Scleroderma give some insight and prognosis. She is only 30 years old and is in the midst of trying to get pregnant...her rheumatologist told her that he didn't see any reason why she couldn't get pregnant, but I am reading a lot of contradiction online. Also, she really doesn't seem to have the symptoms of scleroderma...her skin looks fine, she doesn't seem to have Raynaud's (fingers and toes don't turn colors). If it is Scleroderma and already affecting her lungs....is this bad. No sugar coating..I would like some direct answers.

My next concern is that my husband has Crohn's, his uncle has rheumatoid arthritis, my sister has now been diagnosed with Scleroderma, my aunt had autoimmune hepatitis...with all these autoimmune diseases on BOTH sides...are my children at a greatly increased risk of developing an autoimmune disease? They are 3 and 18 months and this scares me to death!

Any insight would be much appreciated. Bless each and everyone of you that deals with this disease or any autoimmune disease. I'll be hoping for a cure!

#2 janey

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Posted 11 June 2009 - 08:35 AM

Aridge,

Welcome to the ISN forums! I'm so sorry that you are here due to your sister's recent diagnosis and test results. However, you've come to a great place for information and lots of support.

As you have probably already read, it's hard for anyone to give a prognosis. Scleroderma is different for everyone this gets it. In the almost 6 years since my initial diagnosis I have yet to find anyone with the same symptoms that I have. I don't have skin involvement either, but I do have some of the other classic symptoms of scleroderma. I'm glad that your sister has an appointment with John Hopkins!!!! She should get great answers to her questions. When she goes to her appointment, she should have a written list of symptoms and questions. It's so easy to forget so having it in written helps you remember and helps the doctor as well.

In reference to pregnancy - we do have a section on pregnancy and autoimmunity / scleroderma. However, she should definite discuss this with an informed rheumatologist. Not only can the disease add a risk, but some of the medication require that you not get pregnant. Please check all medications!

I'm glad that her echo was normal. As far as the spirometry goes, again she should talk to a pulmologist or sclero specialist. My number are even lower, but have been stable for 2 years now. I never was a smoker so sclero or my other disease polymyositis was definite the cause. It was VERY smart of her to quit smoking. With just that alone, she might see improvements, not just in her lungs, but in her overall health.

Your sister is lucky to have you working with her on this. The support of friends and family so SO important. Please keep us informed on how she is doing and the results of her visit to John Hopkins.

Big Hugs to you both,
Janey Willis
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#3 aridge

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Posted 11 June 2009 - 08:59 AM

Thank you for your reply Janey. What symptoms do you have? And does anyone in your family have autoimmune diseases. Also, since she does have an SCL-70 antibody and had the spirometry tests (coupled with the joint pains that took her to the doctor in the first place)...would your gut feeling telling you that she does in fact have scleroderma and that it is the more serious diffused form?

Blessings

Amy

#4 CraigR

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Posted 11 June 2009 - 09:59 AM

As has been mentioned, this disease effects people differently. I know a person who was diagnosed 47 years ago and recently turned 90.

Lung capacity can be very confusing. Sometimes very high lung capacity can even indicate disease. This was my case. I had numbers around 135%. I was told that this was because I was getting a lot of exercise, and the body was increasing air capacity to make up for the lack of absorbtion of oxygen (diffusion), and that it is not uncommon. Also, the numbers can change substantially from one test to the next (as is often the case with medical tests), so it may be good to get another test, especially a while after having quit smoking.

One of the most important tests is lung diffusion. This is a test of the lungs ability to extract oxygen from the air, and is one of the best indicators. This test might not be done with a simple test of capacity. It was the kicker for me - I was moving lots of air, but only absorbing 64% of the oxygen that I should have.

Also, I passed an echo test just fine, but was later diagnosed with pulmonary hypertension through a right heart catheterization.

In summary, with this disease you really must spend a lot of time being your own doctor. It is often poorly understood by doctors who don't specialize in scleroderma. My general practitioner first told me that I was just "out of shape" - even though I was exercising vigorously (and told him so - so he was calling me a liar). Keep looking when doctors don't seem helpful or contradict your obvious experience.

Craig

#5 Jeannie McClelland

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Posted 11 June 2009 - 05:36 PM

Hi Aridge,

I'd like to add my welcome to the Forum. I'm sorry your family and especially your sister are facing these health problems and sometimes unanswerable questions. Hopefully we can provide you with good, reliable information and helpful advice from our own experiences. I think I can add some reassurance too, because I consider myself to be a success story.

I've been diagnosed for almost three years now with systemic sclerosis sine scleroderma (no skin involvement). When I was diagnosed I already had Raynaud's, sicca syndrome, GI involvement, pulmonary fibrosis, and pulmonary hypertension. So going by the statistics and reports, I should be very, very sick. I'm not. Although I do need to use supplemental oxygen during exercise (I also live at a high altitude), I still do back-country pack trips on horseback and this fall am planning a couple of days of back-packing and camping with another friend with scleroderma and our husbands, now that we've figured out ways to carry my extra O2. I guess I should also mention I'm 62 and a grandmother. :D I'd say my prognosis is pretty good, judging by how things have gone so far and hopefully your sister will do as well as I have.

On your other points - I never smoked and only one of my children has an autoimmune disease (sarcoidosis), however he had some extreme exposure to environmental toxins about 3 years before his diagnosis, so I don't think he inherited a strong risk factor, necessarily.

I know a few of our forum members have had children since their diagnosis so hopefully they'll chime in on this subject.

Give your sister a big hug from all of us and know that we're sending along our warm wishes,
Jeannie McClelland
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#6 Amanda Thorpe

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Posted 12 June 2009 - 05:57 AM

Hello Aridge

Welcome to the forum, it's a safe place to find out about scleroderma.

You've already had excellent replies regarding your sister, I would just add that everyone's scleroderma experience is so different and no one can predict how anyone's disease will progress. What you can be sure of is that plenty of people on this forum still have good lives and get on with the business of living although it may be done differently than before. You don't need good health to live a good life.

As for the hereditary factor, my maternal grandmother had an auto immune disease, my mother has two, my twin two and I have 4, clearly the attention seeker in the family is me. As far as I know my nephew and niece have none and long may it stay that way.

Keep posting with any questions and take care.
Amanda Thorpe
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#7 Shelley Ensz

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Posted 12 June 2009 - 06:32 AM

Hi Aridge,

I just want to welcome you to Sclero Forums, and give a great big hug to you and your sister. I'm sorry your whole family has so much to deal with, regarding autoimmune diseases.

She is going to an excellent scleroderma center and I'm sure they will also be helpful in giving her great guidance and answers to many of these questions.
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.

#8 aridge

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Posted 12 June 2009 - 07:49 AM

Thank you all for your responses. One thing I am definitely finding is that there is no norm with scleroderma...everyone's symptoms, prognosis and quality of life seems to be different. I just be thinking of each and every one of you that they find a cure for this terrible disease. I will keep you posted as to what the doctor at John Hopkins says next Monday.

Oh and one more thing. I want to get involved in any scleroderma fundraising events.

Have a wonderful weekend!

Amy

#9 Shelley Ensz

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Posted 12 June 2009 - 08:26 AM

Hi Amy,

Lisa Bulman is holding a Scoring for Scleroderma women's soccer tournament in Canton, Massachusetts on Friday, June 19th. You are very welcome to raise funds to donate to her event!

Our forum is a free service of the nonprofit International Scleroderma Network, at www.sclero.org. We are a full-service nonprofit agency providing research, support, education and awareness for scleroderma and related illnesses (such as pulmonary hypertension). And we operate this website, with over 5,000 pages in 22 languages! We manage to do all of this on a shoestring, so individual support and fundraisers are always extremely welcomed.

See our ISN Shop to donate or get scleroderma awareness items or books, etc. We post the names of all our supporters on the website (see the right hand column of the forums, for example), and you can also donate "In Honor" which would be a very nice thing to do for your sister.
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.

#10 shennen0820

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Posted 12 June 2009 - 03:10 PM

I am also in my 30's and was recently diagnosed too. I have one child prior to being diagnosed and want to have another. My gynecologist has already sent me to a perinatologist (a high risk pregnancy doctor) and according to him the thing that bears close watching during pregnancy is the blood pressure because of the kidney issues with scleroderma; so possibly being seen weekly for blood pressure checks. I would suggest that your sister (after going to John Hopkins of course) get set up with a high risk pregnancy doctor also. You are right and there is not a lot of information on pregnancy and scleroderma. I have been on another sites and have talked to other women who have had babies with this diagnosis.
Shennen

#11 debonair susie

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Posted 18 June 2009 - 06:28 AM

Hi aridge,

I am so pleased that you found your way here, as this is a community...family really...of very supportive, as well as knowledgeable...often as a result of their own experiences...with autoimmune disease(s).

A person can never get enough {{{{{HUGS}}}}}...so are more on reserve for you and your family...No expiration date!

Please keep us posted!
Special Hugs,

Susie Kraft
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#12 aridge

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Posted 23 June 2009 - 11:23 AM

Well we just got back from John Hopkins and my sister got great news. Dr. Wigley spent over an hour looking at her skin, nailfolds, hands, feet, etc. and even though she has a positive ANA, positive Scl-70, GERD, Barret's esophagus, fatigue, joint pain, dry eyes, and had an abnormal PFT (PFT at JH came back normal...previous DLCO was low) and morning stiffness, he does not feel it is scleroderma. He thinks her Scl-70 was a false positive and that she has a non-specific mild connective tissue autoimmune disease. He went on to say that he felt she was a perfectly healthy 30 year old. He did say in his studies there was a 20% chance that her disease could become a "named" autoimmune disease such as lupus, rheumatoid arthritis, or scleroderma. But at this time, because of the absence of Raynaud's (which another rhematologist said she had--but Dr. Wigley felt she did not), and skin issues said scleroderma could not be diagnosed.

So for any of you on this site looking for hope that you don't have scleroderma...please have some. I never thought of getting this great of news and we did. Dr. Wigley, who I feel is the expert on scleroderma, said that more recently they are seeing a lot of false positive Scl-70 tests and that a positive ANA could simply be because a family member at some point had an autoimmune disease.

And for those of you with Scleroderma...my thoughts will remain with you. I feel VERY confident that Johns Hopkins and Dr. Wigley will find a cure for this disease. They are working so hard towards this and I think they will get there.

I am going to start donating money to this cause and think everyone should get as many people as they can to do the same.

Bless you all!

Amy

#13 Margaret

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Posted 23 June 2009 - 12:04 PM

Hi Amy ,

Your sister sounds like my son when first diagnosed 2 1/2 years ago. He had an initial diagnosis of sine Scleroderma because of + ANA, esophageal dismotility, major fatigue, restrictive lung issues, 20# wt loss, and + Anti-RNA Polymerase 1/111. BUT.......no Raynaud's or skin issues so the Sclero expert said no to Scleroderma and now he's UCTD --- Undifferentiated connective tissue disease. The main point, though, is that he's doing fine on the Plaquenil. Best of luck for your sister.

Take care, Everyone.
Margaret

#14 Shelley Ensz

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Posted 25 June 2009 - 04:58 AM

Hi Aridge,

So, how is your sister taking all that? It must be challenging, to have positive blood tests and symptoms, but to hear at the same time that you are perfectly healthy (does it mean you are imagining things?) and yet to also have some sort of nonspecific connective tissue disease. There are a lot of connective tissue diseases; one of them is, certainly, scleroderma. So that part of the news could be upsetting to her.

I got an awful lot of double-talk similar to this on my way to diagnosis. It left me perplexed. Did it mean I was sick, or not sick at all (and it was, what, all in my head?).

My thoughts are with you, your sister, and your family.
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.

#15 aridge

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Posted 25 June 2009 - 06:13 AM

Shelley,

She is so happy and so excited, especially when he said he saw no reason whatsoever that she couldn't get pregnant and carry a baby. Of course, she could doubt what doctor. Wigley told her and wonder what if the first doctor was right and he is wrong, but doctor. Wigley is the Associate Director of Rhematology and the Director of scleroderma at John Hopkins, which is the #1 Rhematology Center in the US, so for now...she is trusting that doctor. Wigley was right and he was so confident that she didn't have scleroderma and felt she only had a 20% chance of ever developing it.

He did say that he thought the morning stiffness, fatigue, joint pains, etc. was definitely a connective tissue autoimmune disease, but did not feel it was severe. He said he could have prescribed medication to help with her symptoms, but didn't want to do that since she was trying to get pregnant.

If any of you have not seen doctor. Wigley, I would encourage you to do so. He was SO THOROUGH and so nice. If my sister had not seen him, she would have taken the first doctors diagnosis, put off trying to get pregnant, and spent every day of her life thinking she has a disease that she doesn't (or at least hopefully does not.)

She goes back in 6 months...I will keep all of you posted.

And FYI....I own an insurance agency and I just submitted a request to the company to donate $500 to scleroderma research : )

Bless you!

Amy

#16 Sheryl

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Posted 25 June 2009 - 10:25 AM

Amy thank you for putting in a request for a donation for Scleroderma. International Scleroderma Network is a non-profit organization and would gladly except any donations towards finding a cure for Scleroderma. Your company's contribution would be an awesome gift. Hopefully, they will keep us in mind when they plan to make a donation. Keep us informed on your sister's well being and keep an eye out for yourself. It was great hearing some good news.
Strength and Warmth,
Sheryl

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