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Everything posted by Margaret

  1. Margaret

    Raynaud and ANA Positive

    Hi Creleon Welcome to the forums and thank you for being such a caring, big sister. I joined 12 years ago when my son was diagnosed at age 18 and read it's a disease *that turns you to stone*. I thought my son would die an early, painful death. The internet is full of horror stories so be sure to rely on a good doctor and the prescribe treatments. My son is doing quite well and each road bump is treated or taken care of. There are medications these days that make life easier. Take care, everyone. Margaret Mom to Gareth, 30 years old, DS/ASD
  2. Hi Everyone, I just wanted to share with everyone that Gareth has been so healthy, for over a year now, that I'm waiting for the *time bomb* to drop!!! He was sick on Wednesday the day of his IVIg treatment. We went in for the treatment but because of his gut ache, we walked out and over to the primary care physician. Well, because of his extensive medical background, they always run a series of blood work on him. Everything came back normal...CBC, liver, and chem panels...all normal!!! Doctor said it was just a viral bug going around and the next day he was fine and happy. Take care, everyone. Margaret Mom to Gareth, 30 years old, DS/ASD
  3. Margaret

    Sine Scleroderma

    Hi Beckybee; welcome to the forums. My son was initially diagnosed with sine scleroderma, but that was changed to Undifferentiated Connective Tissue Disease ( UCTD) by the Sclero specialist. He had positive blood work and internal involvement, but no skin, Raynaud's or capillary involvement. His main problems were his vocal cords, esophagus, diaphragm/lungs and major fatigue. He was put on plaquenil and has been on that for eleven years now, with no problems. Take care, everyone. Margaret Mom to Gareth, 30 years old, DS/ASD
  4. Hi TGK You sound so much like Gareth when he was initially diagnosis'd, at age 18 - UCTD with + scleroderma blood work. He also has immune deficiencies and if you haven't been tested for that, I would strongly suggest it due to the recurring fevers. He has no IGg 2/4, plus a MBL deficiency - both needed to fight bacterial infections. It's one of those *did the chicken come before the egg?* scenarios. He had always been a sickly kid, but did the immune deficiency cause the autoimmune disease? Anyway, he gets IV Ig infusions every 4 weeks to stay healthy. Take care, everyone. Margaret Mom to Gareth, 30 years old, DS/ASD
  5. Hi TGK, I have gone through Gareth's blood work and don't find that specific test. He did have blood work for Fibrinogen levels, when first diagnosis'd, and it was marked High. I'm never sure of what each specific test indicates when High or positive - meaning does high fibrinogen levels always indicate high fibrinogen in all parts of the body? When he had his neck repaired (plate put in for degenerative arthritis - Oct '15) the doctor had to add 3 hrs to the surgery just to chisel away the mess in his throat. He said his carotid artery, esophagus, and airway had congealed into a solid mass that was like chiseling through wood. I'm assuming that is from too much fibrinogen? If you find the answers, please, share with all of us. Take care, everyone, Margaret Mom to Gareth, 30 years old, DS/ASD
  6. Margaret

    My biggest fear.

    Hi everyone - at first, I felt I didn't need to respond to this thread but Heather's post got me rethinking. Heather - I totally understand your fear of dying before your daughter, as it is my biggest fear, too. Gareth is the reason I joined this site back in 2008, when he was first diagnosed with UCTD and very ill. Gareth has Down's syndrome and autism, besides a host of medical issues that keeps me on my toes. No one, but me (MOM) , can care enough for him or understand his speech/ feelings/pain/etc. I've always joked that I am ready to die any day - as long as Gareth is with me. He did move into a group home several years ago (his choice) but to this day, I still take charge of all doctor appointments and medical issues. If he's hurting or feeling off, he calls me to come get him!! Staff is totally supportive and understands. Sometimes, he *milks it* for all it's worth, but I don't mind. Take care, everyone, Margaret Mom to Gareth, 30 years old, DS/ASD
  7. Hi Jo - wow - I have lots of reading to catch up on. Like the tele-conference last year, they are finding out that so much of the autoimmune diseases are intertwined with the immune system/deficiencies. Thank you, for taking the time to compile all this together. Take care, Everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  8. Morning Allyson, When Gareth was first diagnosed at age 18, his complaints were his esophagus, major fatigue, and chest/voice. His pediatric gastro doctor is the one who ordered the Sclero panel for blood work when his food swallowing study showed his esophagus was hardened. He only had internal issues with his esophagus, vocal cords, diaphragm and the doctor called it sine scleroderma. The Scleroderma specialist, in Pittsburgh, said it was Undifferentiated Connective Tissue Disease (UCTD) because he had no skin issues, capillary damage, or Raynaud's. UCTD can be just as damaging as scleroderma, although I don't understand what the difference is between it and sine scleroderma. He was placed on Plaquenil 6 months after initial diagnosis and, after about 3 months, he told me his *food tube* was working again. The fact that he was male, 18 years old, and had no other CREST symptoms, threw everyone off. Over the past 11 years, he has developed degenerative arthritis and needed surgery for that in his neck. He is showing signs of progressive disease, so we are watching that closely. He needs his esophagus stretched every 12-18 months and the doctor says it looks like a silly, curly straw because it's so contorted by the hardening. He does have asthma; not sure if that is from the diaphragm issues (Chostrocondritis) or not. When he does talk, he stutters badly and that is probably from the initial hardening of the vocal cords. I am constantly telling him to *take a deep breath* so he can talk without stuttering so badly. Internal hardening around the gallbladder caused that to flare up and it was removed. Blood work - has your daughter been tested for immune deficiencies? Some doctors are finding a correlation between autoimmune and immune deficiencies. Gareth falls into that category, too. At age 20, we found out he has Mannose-binding lectin (MBL) deficiency and IG 2/4 deficiencies, thus the inability to fight bacterial infections. He had always been a sickly kid but was never tested. I always wonder if the immune deficiencies led to the autoimmune issues, but his grandfather had rheumatoid arthritis, so that shoots that idea down! He started receiving Gamma globulin infusions shortly after diagnosis and continues to this day, every 4 weeks, religiously. He had a Power Port installed last year because his veins are shot in his arms, again - autoimmune related or immune related? We take each event as it comes and he gets patched up and sent on his way. He has a fantastic group of specialists and nurses at the local hospital know us well!!! Our bodies are a very complicated piece of machinery that is so finely tuned; once it gets out of whack, anything can go wrong. I realize dealing with a 5 years old child is completely different that an 18 years old, but I hope she gets the best of care with considerate doctors. You're in my thoughts. Take care, everyone. Margaret
  9. Margaret

    Test results.

    Morning, anything over 1 is considered positive, but it doesn't say anything about the range. Many on this site have positive blood work with no signs of scleroderma. Others have full blown affects of scleroderma and have negative blood work. If you have signs of scleroderma, then a trip to a Rheumatologist would be recommended. Take care, Everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  10. Good morning. I read your letter with much interest, especially the pain your daughter has in her legs. My son was diagnosed with autoimmune issues at age 18 and suffered for years from leg pain. Like your daughter, he would wake up at night asking for pain meds. During the days, he couldn't walk very far and needed a wheel chair for long distances. Finally, I got a doctor to X-ray his neck - not his hips, knees, ankles like they were all focusing on. It turned out that he had severe degenerative arthritis in the cervical spine area, impinging on the spinal cord. Surgical repair took away the pain immediately. This is just a suggestion - I'm not a doctor. Also, the discomfort in her throat. My son's diagnosis came because of esophageal dismotility. His food wouldn't go down, he told me it was stuck. To this day, he has to wash his meals down with lots of liquids. A simple swallowing test will show the food sitting in the esophagus if dismotility is the problem. I feel your anguish. I hope you find a doctor to help. Take care, everyone, Margaret
  11. Hi Ana. Just being on a low dose or 1/2 dose of an anti-depressant will help with the anxiety and the *not knowing*. You don't have to see a Psychiatrist, per se, even your local primary care physician could try a med on you. If you feel it's not helping, then you can try another med or go off them. One thing I have learned over the years, because of Gareth, is that there are a lot of anti-depressant drugs for the simple reason that each is tweaked to help the chemicals in the brain. Gareth went into depression after initial diagnosis and the psych doctor said it is normal with any autoimmune disease; your brain is part of your body! It's the *what if* that people get consumed with thinking about and that's not a good scenario to play over and over and over again in your mind. You can go off anti-depressants just as easily as you can try them if you don't feel they are helping. Take care, everyone, Margaret
  12. Hi Ana, My son started out with all + blood work and no external symptoms, only internal. His diagnosis is UCTD (Undifferentiated connective tissue disease) and he was placed on Plaquenil six months after initial symptoms, which soften his esophagus enough to work again. Currently, the doctor says his esophagus looks like a silly, curly straw; contorted from the hardening. Like Kamlesh, his esophagus, vocal cords, and diaphragm were affected, along with severe fatigue and depression. The same autoimmune issues that attack your body can also affect the chemical balance in your brain. Gareth was diagnosis'd over 11 years ago and is doing fairly well. He does have the Sjorgren's now, and although he doesn't have the Raynauld's diagnosis, his hands and feet will sometimes blanch out totally white. We deal with each issue as it comes up and he sees a Rheumatologist every 6 months and a Cardiac and Gastric doctor as needed, usually once a year. When he was first diagnosis'd, I thought he would die within 5 years, from all that I read about scleroderma, but he's doing okay. Take care, everyone. Margaret Mom to Gareth, DS/ASD
  13. Margaret


    Hi Clementine, I would also ask your primary care physician for an immune deficiency panel; it registers the IG levels in your blood. Perhaps, you're falling into the Immune deficiency category, too, which is what Gareth has. One can have Autoimmune disease and Immune deficiencies. Ana, Gareth started with internal symptoms, along with all + blood work. His diagnosis is UCTD and he was placed on Plaquenil 6 months after major symptoms started. The Plaquenil really helped his internal issues. Take care, Everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  14. Margaret

    Jo Frowde: ISN Board of Directors

    Congratulations, Lady!!! You've done so much for all of us!!! Margaret
  15. Margaret

    Our Thanks to Margaret Roof!

    LOL.....I'd be a total basket case without you guys!!! Money well spent and cheaper than a therapist!!! Take care, everyone, Margaret Mom to Gareth, 29 years old, DS/ASD
  16. Margaret

    Mildly positive

    Hi Rachel, I just want to say “hi”and welcome to the forums. I joined 11 years ago when my own son, at age 18, was diagnosed with +positive blood work, esophageal dismotility, and other problems. His diagnosis'd is UCTD - Undifferentiated Connective Tissue disease. He does not have skin issues, and although they say it's not Raynaud's, his whole hands and feet will turn totally white when cold or getting into the shower, etc. His issues are all internal and he was put on Plaquenil 6 months after diagnosis. One point you made was always running a fever for months/years and sinus infections. Gareth is also immune deficient - no Ig G 2/4 to fight bacterial infections and MBL (Mannose Binding Lectin) deficient on top of that. Some medical doctors are finding a correlation between autoimmune diseases and immune deficiencies. The next time you're in to the doctor, ask if they will run an Immunology panel to see if your Ig levels are within normal range. They might also want to check your Vitamin D levels as they may be low in autoimmune diseases. Gareth currently receives IV Ig infusions every 4 weeks, for the past 7 years or so. My heart goes out to you......suffering from these sort of medical issues at the prime of your life. I am happy the animals and horses are your *pick me up*. Take care, everyone. Margaret Mom to Gareth, 29 years old, DS/ASD
  17. Margaret

    Allergies and scleroderma

    Hi Warmheart, Now you have me wondering? I was told some major teaching hospitals are testing IVIg infusions as a treatment for scleroderma. Ig E can be elevated in severe allergies, Lupus or RA patients, too. Is it the cause or affect?!?!? Gareth has been receiving IVIg infusions for over 8 years now for immune deficiencies. I can only wonder what his UCTD would be like without the IV Gammaglobulin - worse? Our body systems are so intertwined and complex and there is so much that is yet to be learned. Take care, everyone. Happy Holidays to those who celebrate at this time of year, Margaret Mom to Gareth, 29 years old, DS/ASD
  18. Hi April, My son had the initial diagnosis of sine scleroderma, from his rheumatologist, based on internal involvement, fatigue, and positive blood work (ANA, anti-RNA Polymerase 1/111, etc). When he saw the scleroderma specialist, he said UCTD because he didn't have other symptoms for scleroderma - namely Raynauld's, nail fold capillary involvement, skin involvement, etc. Needless to say, having the UCTD is not any less severe than having the scleroderma *title*. He was started on Plaquenil initially and that did seem to loosen the esophagus for a while and helped with the fatigue. No matter the name given, symptoms are treated as they develop and progress. You asked for suggestions about other blood work. You already have 2 autoimmune diseases. See if your doctor will do a complete Immunology panel for your IG levels and whether you have low counts for fighting infections. Some doctors are seeing a relationship between immune deficiencies and autoimmune diseases. Gareth receives monthly IV Ig infusions because of his immune deficiencies. IV Ig is also being tested as a treatment for scleroderma in some medical institutions. Take care everyone, Margaret Mom to Gareth, 29 years old, DS/ASD
  19. 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
  20. Margaret

    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 .
  21. 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
  22. Margaret

    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
  23. Margaret

    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
  24. Margaret


    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
  25. 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