Jump to content
Sclero Forums

Margaret

Members
  • Content count

    1,024
  • Joined

  • Last visited

Posts posted by Margaret


  1. 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


  2. 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


  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. 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. 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. 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.:dont-know:

     

    Take care, Everyone,

    Margaret

    Mom to Gareth, 29 years old, DS/ASD


  9. 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. 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.   :lol:   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. 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. 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.   :lol:   Fortunately, he doesn't complain about being in pain.

     

    Take care, Everyone.

    Margaret


  13. 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  :sad:    

     

    Once again, thank you, for the information everyone passes along.

     

    Take care, everyone,

    Margaret

    Mom to Gareth, 28 years old, DS/ASD


  14. 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.   :dont-know:  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


  16. Hi Diana,

     

    Welcome to the group but sorry to hear you have autoimmune issues at such a young age.  My own son, Gareth,  was diagnosed at age 18, initially as sine scleroderma but changed to UCTD,  and has been on Plaquenil and IV Ig infusions for immune deficiencies.  He went into a major depression when first diagnosed and the psychiatrist said that the same autoimmune issues that attack your body can also affect your brain chemistry.  He has been on a low dose of anti-depression meds since and they do help.   Continue to ask questions and this group is great at giving out useful information.  

     

    Take care, everyone,

    Margaret

    Mom to Gareth, 28 years old, DS/ASD


  17. Hi Delilah.

     

    It's interesting about your hands. Gareth's hands and feet blanch totally white from the wrists and ankles down, usually during bath time.

    His rheumatologist doesn't seem concerned at all and says it's not considered Raynauld's but his primary care physician says it is from the connective tissue disease.

    It does bother Gareth, I think he feels the tingling sensation when the blood starts flowing again.

     

    Take care, Everyone.

    Margaret


  18. Hi Shelley, thanks for the head's up for fibrin clots.  

     

    I do know that I won't have to worry about flushing it since he has to go in every 4 weeks for the IV Ig infusion.  The nurses have already told me they will be keeping it flushed and cleaned monthly.  The stitches will come out in two weeks and the following Wed, he will have his monthly treatment, so it will be interesting to see how he does with it.  

     

    Take care, Everyone.

    Margaret


  19. Hi Everyone,

     

    It's been awhile but I wanted to let you know that they finally decided it was time to give Gareth a port, surgically installed today with no problems.    :yes:     

     

    His veins are getting harder and harder for the IV team to get the needles in each month for his IV Ig infusion. 

    They are going further and further up his arm, along with 2-3 attempts/rooting around.  Needless to say, he's 

    not been too happy the last couple of times when getting his infusion.   :wink:   Hopefully, this will help each month.

     

    Weight loss has stabilized at 35 lbs; no reason as to the cause.  Heart checkup two weeks ago was normal.   Yearly eye exam, because of Plaquenil, was normal.  Thyroid blood work is all normal.

     

    What a spring! 65-70 degrees all last week and 30 and snow showers yesterday.  The willow bush is in full bud and hydrangea bushes are starting to bud out, too!!  

     

    Take care, Everyone.

    Margaret


  20. Hi Ann,

     

    Welcome to the forums.  I just want to say that I have had positive ANA's in the past, along with minor old lady symptoms -  reflux and osteoarthritis. The first was homogeneous, with nuclear dots, found in  PBC (primary biliary cirrhosis).  All followup blood work for liver function was normal.  The second was positive, speckled pattern.  Both times, the doctors were looking for positive RA blood work (my dad had RA) and that was negative.

     

    But, my son was diagnosed 10 years ago, at age 18, with + ANA, + anti-RNA polymerase 1/111, esophageal dismotility, and major internal issues.  He has also developed Raynaud's and Sjogrens over the past 10 years.   It seems that I got off easy, like it skipped a generation.

     

    Keep posting and asking questions.  There's a great group of people here who have so much experience and knowledge.

     

    Take care, everyone.

    Margaret


  21. Morning everyone,

     

    I finally got Gareth's biopsy report yesterday.from his Dec 28 endoscopy. He does not have Celiac disease   :happy-dance-line: and stomach shows only minor irritation changes due to anti-inflammatory meds.  That's really good news for him and his doctor said not to go on the FODMAP diet.   :yes:   Still no medical reason for the weight loss, but he does seem to have slowed down a bit after dropping 30 #'s.  We will continue to monitor and he's his usually happy, go lucky self, so I know he's not in pain.

     

    Take care, everyone.

    Margaret


  22. Hi Shelley,

     

    I just received a call last night from the office nurse.  He doesn't have a bowel overgrowth, he has a carbohydrate mal-absorption problem.  She didn't explain it much, and said she'd send a "menu" through the mail.   :dont-know: 

     

    I went on line and found this article about how the timing of the breath test explains the two.  This is going to be a major problem for Gareth as it involves deleting all his favorite foods; breads, pizza, pastas, etc., anything that is considered "complex carbohydrates".  He's been lactose intolerant for years and can pop a pill for that; you can't pop a pill for this one.   :wink:   The doctor still wants to do an upper endoscopy, but he hasn't scheduled it yet.

     

    I am curious if this is a new "diagnosis" or something he has lived with for years and we just never knew till he started losing the weight.  I will keep you posted.

     

    Take care, everyone.

    Margaret


  23. Hi Everyone,

     

    Gareth had a Hydrogen Breath test yesterday that spiked to 30,  2 1/2 hrs after starting. They wanted him to wait the full 5 hrs because they wanted a second spike.  He'd have nothing to do with that since he was so hungry and had burgers frozen in his mind !!   :lol:  The test indicates an overgrowth in bacteria in the small intestine.

     

    Treatment is by antibiotics and it would explain the abdominal discomfort and weight loss over the past 5-6 months.  From what I have read, though, most patients spike between 60-90 minutes after drinking the sugar water.  I am waiting to talk to the doctor to see if this would indicate slow motility in the small intestine, too, since it took so long to spike.  I wouldn't think sugar water would be slowed down?  :dont-know:   

     

    The endoscopy is the next step, hopefully, that will be okay.

     

    Take care, everyone.

    Margaret

×