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Son with Scleroderma


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#1 quicksilvermom

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Posted 27 May 2010 - 01:32 AM

Hi All

We are new to the group, this is my first post, and in a nut shell we have two sons, one has a genetic disorder of 48xxyy, he also has scleroderma, started with Raynaud's.

We are so frustrated because recently we noticed that within ten minutes of any activity, being in the heat, his face flushes, gets so red, his hands and feet swell, like someone put a glove on and blew it up, he is in pain, and is very tight, the doctors said this can happen? And of course in the cold water, temperature his hands turn white and hurt, his hands and feet are very shiny. We seem to have to keep him at a perfect temperature all the time, and lots of fluids of course, and balance his diet.

We are just so concerned, because we can't seem to find any help and information about heat issues just the cold? His heart was examined last year and things were good, ultrasound and all, but it is so scary to see, and he was so limited as it was, and now is so restricted to inside and if he does go out we have to really control every detail.

With the cold, the crazy part is he says it doesn't bother him, just when he warms up, the pins and needles. I say this because he loves the pool and the water but again we have to put restrictions on things, it breaks my heart because he just wants to be a kid and have fun, does anyone else have this or advice for us? We just want to make sure especially with the swelling that he is not in any danger health wise, I know we have to get him in and cooled down but is this a normal response? Thanks for listening...

Kelly

#2 Shelley Ensz

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Posted 27 May 2010 - 07:00 AM

Hi Kelly,

Welcome to Sclero Forums! I'm sorry your son has scleroderma but you've found the right place for quality support and information for it.

You would most likely want to get a second opinion on this symptom of heat intolerance because it doesn't sound like you are entirely satisfied with the evaluation or explanations you've received so far.

Please keep in mind I have no medical training at all. Frequently people with scleroderma have thyroid involvement, and a side effect of medication for hypothyroidism can cause heat intolerance, as can unchecked Grave's disease (hyperthyroidism). There are dozens of other possibilities, as well. See: Thyroid Involvement.

I'm sure others will have more and even better info for you, and I look forward to hearing what they have to say.

Here are some welcoming flowers for you. :flowers:
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 Amanda Thorpe

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Posted 27 May 2010 - 07:19 AM

Hello Kelly

Welcome to the forums although I am sorry your son has scleroderma. Shelley's given some good advice because most people with scleroderma can't bear the cold and love the warm but I'm not one of them! I have erythromelalgia in addition to scleroderma and Raynaud's and now...hot flushes...I'm only 41!

I hope you find out what's causing your son's reaction to heat so that he can be more comfortable as soon as possible.

Take care.
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#4 quicksilvermom

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Posted 27 May 2010 - 09:02 AM

Thank you so much for the well wishes and also advice.

we are going for lab work-ups again, and also back to the specialist next week, although we have seen a slow progression with the scleroderma, some stiffness, shiny skin changes, flushing face with anxiety and activity, the sudden onset of the swelling and intolerance with heat and activity level leaves us wondering if like you said and underlying issue for the flare up. They are testing for lyme bacteria Bb, and redoing all the other factors, this has been a long journey, he is 12, but we have known since he was 5 years old, and it is heartbreaking seeing the changes in his little life, thank you for all the support and listening.

Kelly

#5 Margaret

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Posted 27 May 2010 - 09:30 AM

Hi Kelly ,

Welcome to the group and how old is your son? I'm the Mom of Gareth, Down Syndrome/Autism, who is 22 years old now. He was initially diagnosed with sine Scleroderma at the age of 18 but later changed to UCTD. He's got Raynaud's, hypothyroidism, GERD, SICCA, and other medical issues. He also gets very flushed/ overheated easily and I assumed it was from the thyroid meds. His Raynaud's is not as bad as your son's and his hands don't swell up.

This is a great support group and they have walked me through his many issues over the past several years since Gareth is mostly non-verbal, too.

Take care, Everyone.
Margaret

#6 Sweet

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Posted 27 May 2010 - 11:53 AM

Hi Kelly,

Welcome! I'm glad you've joined us, but sure sorry due to the circumstances. I'm like your son. It used to be that I had to actually be IN the sun before I got the reaction you described. Now it just has to be in the heat. I feel like I'm burning up inside, and I'm red to look at. It will last for a few days. It's a real bummer, because I've been a beach bum my whole life, and we are avid boaters. This year I believe will be different. The only advice my doctor has ever given me was to stay out of the heat. Easier said than done. :flowers:
Warm and gentle hugs,

Pamela
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#7 Snowbird

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Posted 27 May 2010 - 12:29 PM

Hi Quicksilvermom

Just wanted to say welcome too but sorry to hear your young son is having such difficulties. I can't add any advice on this symptom to help you (new for my ears too?). You will find this site very helpful and knowledgeable...someone here is always in the know it seems. It is a great place to ask your questions and get good, sound support.
Sending good wishes your way!

#8 CraigR

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Posted 27 May 2010 - 01:40 PM

Sounds like a good endocrinologist might be helpful. Might be able to deal with possible issues mentioned by Shelley. I hope you have a good specialist dealing with the possible issues of his chromosonal abnormality.

There is a chromosonal abnormality called Klinefelters Syndrome, where males have two or more X chromosones along with a (normal)single Y. It sounds like your son has something different. Nevertheless, I understand that there is increased occurrence of Autoimmune diseases with Klinefelters.

Good Luck

Craig

#9 Jeannie McClelland

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Posted 27 May 2010 - 02:09 PM

Hi Kelly,

I want to welcome you and your family to the Forums. I'm sorry you needed to find us, but glad you did. I hope we can provide you with good, reliable information, friendship, and lots of hugs. I look forward to getting to know you.

Best wishes,
Jeannie McClelland
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#10 quicksilvermom

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Posted 28 May 2010 - 12:50 AM

Hi and thank you..at least knowing that this can happen with heat is helpful, it seems that most information is on the how cold affects different people...They use to lump the xxyy with Klinefelters, but it is its own genetic disorder, they actually have a great support group and clinic just for xxyy..the crazy thing is we are at the number one children's hospital in the country and it was really fluke that we found out about the xxyy at age 5...he was in and out with various medical issues since birth, however if you would meet him on the street would never know that he was battling so many medical problems. Mostly GI issues, a lot of allergies, however the Raynauds started early on and we have been followed very carefully, there were changes about 1 1/2 ago that they told us it was scleroderma, they think this too is the underlying problem with the GI stuff...they did tell us that they do see later on that most children with other medical issues that also have scleroderma that is what is the underlying cause...we have seen so many doctors and they tend to bounce you around to different ones, because no one really seems to understand, but we do have a good rheumatologist doctor and work with a great team at the hospital, we have yet to find a good endo doctor that works with kids that have rare genetic makeups...any suggestions please send them this way. We will keep you all posted once we go next week, in the mean time they are sending us for labs for lymes and checking the IGG levels and rheumatoid tests again....but like most with the heat issues, they told us the same thing, stay cool, less activity, once you start having a reaction, stop what your doing, get balanced...temp, fluids, stress....it just breaks our heart to see him have to go through this and all he wants to do is just be a kid and play..thanks for listening and allowing us to share and get advice...so glad we found this group.
Kelly