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Concerned Mom


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#1 Margaret

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Posted 09 December 2006 - 10:10 AM

Hi, Everyone....I am new and would like some info/suggestions for helping my son. He is 18 years old, DS/autistic and started grabbing at his throat in Sept. In Oct. we found that his esophagus has stopped working and lots of blood tests were done. Thursday, I found out from his Gastro doctor that 2/3 blood test for scleroderma came back positve.
Anti-RNA Polymerase 1/111 positive
ANA titer positive
Scleroderma AB negative.
I have been on line and found info for the first two blood tests but can find nothing on a blood test called Scleroderma AB. Does anyone have another name for it? Since he has no skin issues, I am assuming this will be sine Scleroderma. His gastro doctor says to wait and ask the rheumatologist doctor Dec. 28th. That is an eternity for me!!! I have been reading many of the other letters and find that many of you are in pain. Because of the autism, I never know how much pain my son is in. He walked around with almost no hip socket for years and his esophagus looked like raw meat when his GERD was finally detected. Pain is displayed in behaviors. Even when I ask him if he hurts and does he want Motrin, he will say 'I fine.' His speech is so limited.......I just want to know what to look for and help him the best I can.
Margaret

#2 americanmike

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Posted 09 December 2006 - 11:02 AM

margaret--
My heart goes out to you. Life isn't fair and I'm so sorry to hear of your son's health problems. We have a friend of our family recently diagnosed with autism and his grandmother had scleroderma and many in the family have had autoimmune conditions like RA and lupus. Their is plenty of research out there that attempts to link autism with autoimmune response. As I'm sure you know that may be one of the reasons immunizations seem to triger autism. I'm not a doctor just telling you what I've read.

As for the sclero AB test. That is probably SCL-70 antibody and/or Anti-Centromere antibodies. These are the two most popular antibodies associated with scleroderma and both are usually part of a blood panel for rheumatic conditions. There's a ton of info on them at Sclero.org You'll see that these antibodies give added support to a diagnosis but some are diagnosed with purely negative tests for antibodies, and even some are diagnosed with SSc without even a positive ANA. So symptoms will be the true guide for your doctor.

The positive antibody that your son did have...anti Rna polymerase is an antibody that does sometimes appear in the blood of patients with scleroderma.

I hope you keep reading and see that education on his condition will be worth its weight in gold. You'll get better treatment and you'll have more options open to you. Scleroderma is not the diagnosis it was 5 years ago. There are many new treatments (ie new medications, stem cell transplants, immunosuppressants, etc) to improve the quality of life, slow down the disease, and for some to put the disease into sustained remissions.

Everyone on this site, as you'll soon see, cares so much.
Welcome and hope you find a way to make things better for you son soon.

Michael in Florida

#3 Heidi

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Posted 09 December 2006 - 11:53 AM

Hi Margaret,

Welcome to the forums! I am so glad you found us, but I am so sorry it is because of the recent problems with your son. It must be really frustrating not to be able to communicate well enough with him to know what exactly is hurting and what he needs.

As Mike told you, most rheumatologist will base a diagnosis on a combination of the blood tests and clinical symptoms....so it will be important for you to try to observe any changes in your son that may indicate specific symptoms that you can share with the rheumatologist.

Please keep us posted on what you find out on the 28th.

Warm wishes,
Heidi



#4 LisaBulman

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Posted 10 December 2006 - 04:44 AM

Hi Margaret,
Welcome to the forums! I am so sorry to hear all of the health problems your son and you are dealing with. You are a brave and strong woman. Life is so unfair sometimes, especially to children. Please know that we are all here to support you and give advice and information when we can. I see that Heidi gave you some links already that you can read up on. Please keep us informed on your sons tests results.

Take care,
Lisa
Lisa Bulman
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#5 Shelley Ensz

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Posted 10 December 2006 - 09:25 AM

Hi Margaret,

Scleroderma Antibody negative, probably refers to SCL-70 antibody; and "negative" in this case is good news. (Why they call something "negative" when it is positively good news, is just beyond me. Likewise, they call some things "positive" which are horribly bad news. Go figure.)

Some types of polymerase antibody tests might be related to Downs Syndrome. And Downs can cause severe gastrointestinal and esophageal problems (along with dozens of other things) as I'm sure you may know. Antibodies may also be produced with Downs Syndrome, as there does seem to be some relationship to autoimmunity. So it may be possible for him to have some positive antibodies without also having scleroderma.

So for the moment, until you know otherwise from the rheumatologist, you may have some reasons to relax a little. The odds might be in your favor that his symptoms may be caused by complications of Downs...although I sure can't say that complications of Downs are any sort of pleasantness, it can at least be a little bit reassuring until or if the rheumatologist thinks otherwise -- especially in the absence of other things, like Raynaud's, calcinosis, pulmonary fibrosis (hopefully), and tight skin.

We all know how upsetting it is just to have the possibility of scleroderma mentioned. I sure hope your son doesn't have it on top of everything else. My heart goes out to you both, and I hope that they are able to find and perhaps ameloriate some of his symptoms soon.


Warm Hugs,

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

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