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About quicksilvermom

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  1. Hi All, I am wondering about the main page recommendation of doctors listed. Has anyone used them, and because they are listed are they the best of the best? We are about to take our son to see the doctor from the list here, from Jefferson hospital in Philadelphia but before we continue just wanted to make sure we are going to the right one. It is so hard to find a really good doctor. Thank you for any input. Kelly
  2. Hi Erin, Our son is twelve, and has had issues with heat for awhile, however his body (if we don't get him cooled down) will go into a crisis, heat stroke symptoms and he has had a few grand mal seizures, which they tend to think that they were caused by this also, all his tests show no sign of seizure disorder. Anyway we have had two doctors in the same room (last week) say two different things, one said yes the scleroderma can do this, with swelling of hands and flushing and then keep going if not controlled, the other said no. We are seeking a second opinion from one of the doctors listed from this group, Dr.Jimenez, at Jefferson Hospital, and also we are waiting to get into a special diagnostic clinic of "super doctors" because our son also has a genetic disorder and multiple medical problems, and is a very rare case, like others here, he his tests come back normal, the only test that was abnormal was IgG 41 subset class 4....but yes heat is an issue with him. Kelly
  3. Hi Thank you for the info. I just have this gut feeling that we need to think outside the box, especially that my son has a genetic disorder on top, 48xxyy, plus felt like things weren't explained to us very well. Not saying that he doesn't need to start the treatments, just making sure we go about it the right way, its so hard..but we did go on the main page here and went into experts and will call on Monday to the doctor at Jefferson Hospital in Philly. Did start to read his papers and its interesting to see that there is protein connection anyway, I am so grateful we found this group so we can make sure we go down the right path with our son. Kelly
  4. Hi We just came home from our visit today and they would like to start methotrexate injections once a week, 25mg, to help with the onset of skin and joint issues for our son. He is 12. They also put him on one aspirin a day for the swelling issues and blood vessels...does anyone have information on this drug and how it has helped and do you think its the right way to start? This is the first time we are going on medication for him...thanks for the help Kelly
  5. Hi Again Ok, I have a ton of questions, I have been reading a lot of the older posts to try and gather info....my son, age 12, is going to the doctors next week for the swelling (I posted about heat issues). I know there are a lot of medications out there that are used, but wonder if anyone here has a child using any or if they started as a child on medications...so worried about the side effects etc.. Also, our son has 48xxyy, and right now has normal hormones, however most young men start to stale in puberty and have to go on hormones..wondering it this will affect the medications that they will be using to treat? I was reading the posts on skin changes, is it true that the skin can get worse then better? Does this happen to everyone? Is there hope for him to stop this phase? His fingers and hands are really red and shiny, stiff, especially in the mornings; also same with the feet, they get bright red and stiff, he says they always feel tight. He also says his belly itches, but he has a g-tube also, and it gets sore and itchy sometimes...we use cortisone cream and the itch goes away... Thanks for listening as I try and sort through things and help make the right choices for him.... On a final note, they told us that increasing omega 3 would be worth a try? Anyone try this? Kelly
  6. 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
  7. 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
  8. 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
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