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Biomarker for Diffuse Scleroderma skin has been discovered!


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9 year old with Positive Scleroderma test...


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#1 Tanids

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Posted 01 February 2011 - 06:04 PM

Hi Everyone,
My 9 yr old started having pain in her knees (and swelling) a year ago, they thought maybe it was how her hips were shaped etc. So they sent her to P.T. Anyway fast forward to a year later, she was still having a lot of swelling and severe pain. So we took her back in, they ran a bunch of tests, Lyme, Sed rate, ANA. Everything came back normal except ANA which was 1:1280 speckled. So they quickly sent us over to a Pediatric Rheumatologist. He thought possible Juvenile rheumatoid arthritis and he sent us off for a bunch more labs and an MRI with contrast.

MRI came back with discoid meniscus - so they are sending us to a joint specialist to have her knees surgically repaired. The rheumatologist thinks the knee problem is mechanical now and not JRA. Also one of the tests he did was for Scleroderma (Sorry I don't know the exact name) and it came back positive (the nurse said red, 135.) So the rheumatologist is sending us to get her a Pulmonary function test. For a couple weeks she has had shortness of breath but her Pediatrician thinks maybe she developed asthma recently? The Pedi rheumatologist thinks it is highly unlikely she has Scleroderma, but he also wants us to watch her closely.

I should mention my Grandma has it, she has the internal organs and the skin involved. She has been sick for about 30 years.

I don't know what to think, except to worry. I know this disease is rare in children. But is it common for children to have a positive Scleroderma marker?

Thanks again everyone for your replies!!! You are all so helpful!

-Worried Mom

#2 Sweet

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Posted 01 February 2011 - 06:12 PM

Hello Worried Mom,

I'm really sorry to hear about your child, but I'm glad you found us, and have jumped right in to ask questions. We have several members with children that have scleroderma. It sounds like the doctors are taking this seriously, and ordering the appropriate tests. One positive test does not necessarily make for scleroderma however. So for now, try to take a deep breath, work through the testings, and see where this leads. I can certainly understand your nervousness! I would feel the same way. Please keep us posted. :flowers:
Warm and gentle hugs,

Pamela
ISN Support Specialist
International Scleroderma Network (ISN)

#3 Shelley Ensz

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Posted 01 February 2011 - 09:20 PM

Hi Worried Mom,

Welcome to Sclero Forums! I'm sorry it's because of concerns for your daughter and am sending warm hugs for both of you.
:emoticon-hug:

As I understand it (and please keep in mind that I have no medical training at all, and favor bandaids with cartoon characters on them), it is not unusual for relatives of scleroderma patients to have scleroderma or other rheumatic antibodies, or even a symptom or two of scleroderma or other autoimmune diseases. It doesn't necessarily mean that they will ever develop full-blown disease, however. In general, only about 2% of the time is it hereditary, however it is more prominent in some families, such as the Choctaw tribe.

I know it must be very hard to handle the uncertainty and testing. Just hang in there, though. It could always be worse, and it might turn out better than you think. There are many people, children included, who have had a close brush with scleroderma-like illness and lived long and healthy to tell about it. If by chance your daughter does have scleroderma, you can take a bit of comfort in the fact that you are already getting good care for her and in that way would be years ahead of many other people, as on average it takes about six years just to diagnose scleroderma.

Well, now I wonder how much of a comfort I've been! I just want to say hello, let you know we care, and that we are here for you, come what may.
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.

#4 Joelf

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Posted 02 February 2011 - 08:35 AM

Hi Worried Mom,

Welcome to the Forums!

I'm sorry to hear that you've had a lot of scary health concerns for your daughter; no wonder you're so worried.

We have a few other members whose children have Scleroderma and I'm sure they'll be posting with helpful advice and we also have a page on Juvenile Scleroderma. However, as Shelley and Sweet have said the blood tests for Sclero are by no means conclusive and it may be that your daughter won't develop full blown Scleroderma. Unfortunately it is one of those illnesses for which doctors very often recommend the 'wait and see' approach, which is horrible to hear when you're worried and desperate for reassurance; I know because that's how I felt!

One huge comfort is that now you've found our forums you can be assured of an understanding ear and a broad shoulder, should you need it. Do keep posting and here is a :emoticon-hug: for you and your daughter to be going on with!

Jo Frowde
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#5 Margaret

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Posted 02 February 2011 - 09:35 AM

Hi Worried Mom ,

I'm a worried Mom, too, four years in the making now. My son was diagnosed at age 18 and put on Plaquenil 9 months later. He's doing pretty good now except for the constant *I'm soooooooo tired.* This site has taught me so much and gotten me through the rough times. I had never heard of Scleroderma until Gareth's blood tests came back positive for them.....my Dad did have RA, though. Gareth started with the 20# weight loss, esophageal dismotility, restrictive lung issues, loss of vocal cords, etc. His was all internal involvement with no skin issues or Raynaud's. He's got the diagnosis of UCTD, now, but they treat the symptoms like they would Scleroderma. I hope they find meds to work for your daughter. Keep posting here and everyone will help walk you through your journey.

Take care, Everyone.
Margaret

#6 Shelley Ensz

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Posted 02 February 2011 - 12:21 PM

Hi Worried Mom,

I must say, Margaret sets an excellent example of how to handle things, from a mom's perspective. She has sought out in the forums how to best handle things with her son's illnesses, while also providing great comfort and support to others throughout the years, and boosting the cause of scleroderma, too.

Margaret, do you realize you've been here over five years now? My goodness, the time has flown! Here are some flowers to celebrate.

:flowers:
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.

#7 Amanda Thorpe

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Posted 02 February 2011 - 05:33 PM

Hello Worried Mom

Welcome to the forums although I realise you'd probably rather not be here because of your daughter. Whatever comes her way, or doesn't, she is already getting great medical care and attention and has you in her corner to make sure that continues.

Take care.
Amanda Thorpe
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#8 Lynnie

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Posted 02 February 2011 - 09:14 PM

Hi Worried Mom,

As a mum to a 20 year old son and recently a diagnosed scleroderma sufferer myself, I can fully understand your panic/blind distress,for illness to hit our children is the worst feeling in the world. I often think has this illness been passed on to my son in his genes to strike him/children in the future...a time-bomb!

What the wonderful people on here have taught me is resilience, to take control, and most importantly educated me what it takes to get through the days and not to be afraid to be afraid, and, there is a life after diagnosis.

You will find everyone will give you the strength to face whatever lies ahead for you and your daughter in the months to come, as they did for me and still do.

Come and share with us okay, good or bad it matters not...we all will listen.

Hugs and support at this scary time,

Lynn

#9 Margaret

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Posted 03 February 2011 - 03:58 PM

<<I must say, Margaret sets an excellent example of how to handle things, from a mom's perspective. :blush: >>

Ah, Shelley, how sweet. I appreciate the confidence booster!!! It was 4 years this past Dec that I joined....hard to believe that long ago.

Worried Mom....after reading what was on the web about Scleroderma, I thought for sure my son would die very quickly. Thankfully, I found this site and they all have walked with me since. The hardest part for me is that my son has Down Syndrome and Autism, with very little speech. He couldn't tell me what was going on or what he was feeling....BUT, all these wonderful people could *fill in the blanks* for me.

Take care, Everyone.
Margaret

#10 Tanids

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Posted 04 February 2011 - 03:38 PM

Thank you guys so much!!! :thank-you: I am so grateful for all the support from you guys! This forum is such a blessing!

It has been a crazy week for us. We met with her Orthopedic Dr. who will be doing surgery on her knees in 2 weeks to fix the discoid meniscus. She also said she would take a sample of her synovial fluid in her knees and send that off for a biopsy (to look for Scleroderma). She believes part of her problem is from the discoid meniscus but she doesn't think that the bigger swelling she is having in her knee joints or the heat is related to it. She also had her pulmonary function test today at the children's hospital. The tech said she is having some restriction so she gave her a nebulizer treatment and tested her again. But it still didn't change anything. She said the pulmonologist will look at it all over and send his report to the rheumatologist and her Pediatrician. So does it mean anything if she is not meeting what they think she should? (If that makes sense) And also what about the fact that the asthma medicene doesn't change it either?

Thanks again so much!

- Worried Mom (Tamiel)

#11 Tanids

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Posted 04 February 2011 - 03:57 PM

I should introduce myself too!! I initially joined this forum a couple years back to learn a little more about Scleroderma and what my Grandma was going through. My Grandma has had Scleroderma for more than 30 years. And back when she first recieved the diagnoses they told her she would die in a few years, but she has been fighting this disease and has not allowed it to stop her from living her life for 30 years!!

It has been years since I came back here and visited this forum but I am so grateful for it and now with my own daughter potentially having to deal with it, it is a life saver.

Thanks you guys! :)

-Tamiel

#12 Margaret

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Posted 04 February 2011 - 04:52 PM

<<The tech said she is having some restriction so she gave her a nebulizer treatment and tested her again. But it still didn't change anything.>>

Hi Tamiel ,

My son also had restrictive lung problems initially but that went away after a couple of months on Plaquenil. He also has asthma (not from Scleroderma) and the two are different. The restrictive lung problems, I was told, is from the chest cavity tighening due to the Sclero and/or from chondrocondritis (spelt wrong, again!!!) That is what Gareth had. He couldn't take a deep breath because it hurt so bad for the chest to expand. Best wishes to you and your daughter.

Take care, Everyone.
Margaret

#13 susieq40

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Posted 09 February 2011 - 09:35 PM

Tandis,

So sorry to hear about the health issues of your daughter. You must be so scared! My
thoughts are with you! My mom was completely devastated with my diagnosis,
and I'm 43. It's so hard to see your sweet daughter in so much pain. I hope that her
surgery for her knees goes well!! Just love her and be thinking of comfort. I will also
be thinking of her. Know that here you have support and people that understand what you are
going through! HUGS!

susieq40