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  1. Hi Everyone, I recently read an article about MBL deficiency and was surprised to find that it is very common and found in 1/30 people. It is usually found in young children these days, but we never knew Gareth had it till he was 20 years old. In Gareth's MBL situation, he is missing one of the three components necessary to fight bacterial infections. Along with the Ig 2/4 deficiencies, he's always been so sickly and now receives the IV Ig infusions each month. They are finding more correlations between immune deficiencies and autoimmune diseases like scleroderma. If you're constantly sick with infections, then perhaps your doctor would do a blood profile to check for immune deficiencies. Take care, everyone. Margaret
  2. Upper Endoscopy/Colonoscopy

    Hi Clementine, My son has an endoscopy every 12-18 months because he needs his esophagus stretched or has stomach pain from an ulcer. I suppose it would depend on your symptoms; he just goes in when he's symptomatic. Take care, Everyone. Margaret Mom to Gareth, 29 years old, DS/ASD .
  3. Hi Angel. I thought I responded to this but guess I never sent it. Gareth has had 3 positive anti-RNA Polymerase !/111, since diagnosed 11 years ago, each one higher than the last. His kidney tests are all normal. His only other positive scleroderma blood work is the ANA, speckled pattern with diffuse cytoplasm. Initially, his Fibrinogen level was very high, too, but that hasn't been tested in years. His only issues are internal, so his diagnosis is UCTD. Take care, Everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  4. Nailfold capillaroscopy

    Hi Elsa. I am surprised he didn't just do it then. All he had to do was put a drop of oil on your nail and look at it under a microscope or strong magnifying lens!!! Most have this simple test done in the beginning because, unlike your one finger, they start out microscopic and can't be seen readily by unaided eyes. Take care, Everyone. Margaret
  5. Scared for my Mother.

    Good morning Angela, My situation is the opposite, my son, Gareth, was diagnosed 11 yrs ago, at age 18 --- first with sine scleroderma and that was changed to UCTD, after a visit with a scleroderma specialists. Basically, all his blood work was positive, but he had no Raynauld's or skin hardening (just internal hardening). I was a wreck reading all the on-line issues about the fate of scleroderma patients and thought he would die a slow, ugly death. Needless to say, very little of what I read was true or happened. Yes, he does have internal issues from the disease, but he's doing well for the most part. He was put on Plaquenil, and due to immune deficiencies, he receives IV Ig infusions every 4 weeks. This is a great site for up-to-date information and there is always someone to answer questions. Try to get to a specialist if possible or at least a good rheumatologist who knows about this disease. Take care, everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  6. Fibrillarin

    Hi Newin, Welcome to the forums. I want to tell you that I was in a tele-conference a while ago and the doctor stressed how they are finding a correlation between autoimmune issues and immune deficiencies. You sound like you fall right in that category. He suggested everyone with autoimmune issues have blood work to rule out immune deficiencies, especially in their Ig levels. Perhaps, your primary care doctor or rheumatologist could recommend them, just as a precautionary step. Being treated for any immune deficiency may help offset the autoimmune issues. Take care, everyone Margaret Mom to Gareth, 29 years old, DS/ASD
  7. Hi Everyone, I participated in an interesting teleconference yesterday with an Immunologist, Dr Terry Harville, and want to share some of my notes. As most of you know, Gareth has both autoimmune issues (UCTD, Sjorgrens) and Immune deficiencies (Ig G and MBL deficiencies). He talked about the idea of the two being due to Immune Dysregulation, over active for autoimmune and under active for immune deficiencies. It seems to becoming apparent that autoimmune and immune deficiencies go hand in hand and may be triggered by a similar gene mutation. He said that many people are being treated for autoimmune issues (RA, IBD, Crohen's, etc) but have never been tested for immune deficiencies. He strongly recommended that patients be proactive with their doctors and request immune deficiency blood work (specifically IG profile, etc). One point he made was RA patients being on these new biologics that may increase their risk for infections, particularly fungal infections. Having low IG levels would only make their situation worse, with no one understanding why. Gareth has been on Gammaglobulin infusions for 8 years now and the doctor said that many with autoimmune issues improve with the infusions. His UCTD was diagnosed before the immune deficiencies were diagnosed, even though he had always been a sickly kid with numerous pneumonias, ear/sinus infections. So, if possible, the next time you have a lot of blood work done, ask if the doctor will check your IG levels, if they have never been checked. If one has autoimmune disease, then they should be close to 1000, if not higher. Take care, Everyone. Margaret Mom to Gareth, DS/ASD
  8. Morning, this is quite interesting. I have never heard of ASIA before. Gareth had surgery on his right hip at age 15 and has 5 pins holding it in place. Three years later, he's got + blood work for scleroderma, and is diagnosed with UCTD. I'm wondering now if his unexplained 30 lb weight loss last year was due to his body reacting to the *metal ladder* holding his neck together, put in 1 1/2 years ago? Very interesting. Take care, Everyone, Margaret Mom to Gareth, 29 years old, DS/ASD
  9. I'm young and so scared - please help

    Hi Ashley , As I said before, my son had all the positive blood work and esophageal dismotility when first diagnosed. He did not have nail fold capillary irregularities, skin hardening, or Raynauld's at the time. The specialist said he didn't have scleroderma but labeled him with UCTD (Undifferentiated Connective Tissue disease). That being said, he still has issues internally. His hands and feet blanch out completely white, but not individual fingers/toes, hence, no diagnosis of Raynauld's. He has red blood spots on his chest, but that is a common site for anyone to have them. I guess what I'm trying to say is that the diagnosis of scleroderma is very specific, with guidelines the doctors follow. Having UCTD does not diminish the severity of Gareth's issues over someone with the diagnosis of scleroderma. Does that make sense? He was put on Plaquenil and an anti-depressant at the start and, after 3 months, his esophagus softened up and he was feeling pretty good. Over the past 10 years, he has had his ups and downs with medical issues, but he's living life and enjoying it. There are many chronic illnesses that one can carry through life - how you deal with it can make a world of difference for your mental health. Please, take a deep breathe and follow the doctors advice. Everyone here is ready to offer useful advice, too. Take care, Everyone. Margaret
  10. I'm young and so scared - please help

    Hi Ashley, My son started having issues and positive blood work at age 18. He'll be 29 years old next month and even though he's had his ups and downs, he's still very much alive and kicking. Because of the OCD and anxiety issues you suffer from (I'm not sure if this is new to you) but I want to let you know that Gareth went into a severe depression after diagnosis and the doctor told me that the same autoimmune issues that attack the rest of your body can also affect the brain chemistry. Please, don't hesitate to discuss your concerns with a doctor/psychiatrist. There may be medication to help ease the anxiety/OCD. Continue to ask questions on the forum here and someone will usually chime in with their experiences. Take care, Everyone. Margaret Mom to Gareth, 28 years old, DS/ASD
  11. Rheumatologist Answers.

    Hi Everyone, The good news is that the doctor is pleased with the healing of the two ulcers at the incision site and the port can be used this Wednesday for his monthly IV Ig. His comment was "his body had a reaction to the self-dissolving sutures". OK, what do we do when he has another surgery? "Oh, just let the surgeon know", he said. Minor bump in the road of life!!! Take care, Everyone. Margaret
  12. Rheumatologist Answers.

    Hi Dimarzio, Gareth's port was installed below the collar bone, on the left side. His incision was infected from below the thin scar tissue that covered the wound. Once they lanced the thin skin layer over it, it revealed the two, small, ulcer-like areas below. There are many causes for ulcers; I just didn't know that scleroderma ulcers had to do with capillary/blood issues. He has had large cavernous ulcers before, usually on his legs, and they have taken forever to heal. Maybe they can use that medical super glue and put his incision back together, if it's not infected. Fortunately, he doesn't complain about being in pain. Take care, Everyone. Margaret
  13. Rheumatologist Answers.

    Hi everyone.....I am finding this an interesting thread and quite noteworthy concerning Gareth. As I told everyone, he had a Power Port installed the end of February. The top stitches were taken out two weeks later, with self dissolving stitches underneath. It appeared to be healing okay, on top, but after another week or two, we all noticed the scar was getting much wider, even though it appeared to be healed over. When asked, Gareth would say *it's fine* *no hurt*. Last Monday, I had him in for a recheck and they didn't like what they saw. They lanced the thin top scar and there were two pockets of unhealed tissue. Needless to say, no one was happy. I never thought about it being Sclero related....the lack of healing. He's on Keflec for the week and will be back into the doctor's office this Monday. His next IV Ig will be Wed, but I'm not sure they will be able to use the port with the unhealed tissue around it. Even today, the two pockets appear the same as they did on Monday.......not good Once again, thank you, for the information everyone passes along. Take care, everyone, Margaret Mom to Gareth, 28 years old, DS/ASD
  14. Blue finger nails

    Hi Everyone, Do bluish colored finger nails go along with Raynauld's? Gareth's hands/fingers don't feel cold but I've noticed lately that the top 1/2 of his finger nails appear blue/purplish. Just curious as this is a new phenomenon for him. I know from his blood work that his O2 levels are okay. Take care, Everyone. Margaret Mom to Gareth, 28 years old, DS/ASD
  15. Hi Dimarzio, I can't really answer that because Gareth was always so sickly as a kid. He had chronic ear infections, mastoiditis, pneumonias, gastic ulcers, etc. It wasn't until he was 20 years old that we found out he had immune deficiencies - Ig G 2/4, which fight bacterial infections and a Mannose Binding Lectin deficiency, which is a missing component . That is why he gets the monthly IV Ig infusions. Gareth was 18 years old when he told me his *food tube* (esophagus) wasn't working. He told me his food was stuck. I mentioned it to his pediatric gastic doctor and he immediately ordered a barium swallowing test, which showed the food sitting at the top of his esophagus - no motility. He was the one who ordered the blood work for scleroderma because, in his words, it was the only disease that he knew of that would cause dismotility of the esophagus. Blood work was positive - ANA, anti-RNA Polymerse 1/111. He actually got a lot worse that winter as his vocal cords hardened and his rib cage (chostrochondritis) and major depression. We did see the specialist in Pittsburgh who said it was UCTD because he had no Raynauld's, capillary problems, or skin issues. Three months after starting on Plaquenil, he told me his food tube was working again. It's been 10 years now and, for the most part, he's doing okay, as long as he gets his monthly infusion. He just had a port installed because it's getting harder and harder for the gals to get the IV in. He has developed Sjorgens and obvious vein problems - his hands/feet blanch out white, like Raynauld's. He developed hypothyroidism that had to be addressed. He's got 5 pins holding his right hip in place and a metal ladder in his neck due to degenerative arthritis from C 3/4 to C 7/8. Despite his life of illness, he has always remained a fun loving kid. Despite the Down Syndrome and Autism, he is a very intelligent kid. I am very blessed to have him as my son; he's taught me what is important in life. Take care, Everyone. Margaret Mom to Gareth, 28 years old, DS/ASD