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Margaret

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Posts posted by Margaret


  1. Judy, I just read this about MBL deficiency while Googling this morning.  It seems MBL deficiency is considered an autoimmune disease and the last line of this information, his IvG 2/4 deficiency,  says they are susceptible to autoimmune issues. Which came first; the chicken or the egg ?!?!?

     

     


  2. Hi Judy,

    Gareth has a new rheumatologist (trained at JH Sclero center) and when I questioned her about raising his Plaquenil level because of pain/fatigue, she said *no* . Her reasoning was that his pain/fatigue was due to exercising (post neck surgery) and not inflammatory/sclero related. She also stated since he was receiving monthly IV Ig infusions, due to his immune deficiencies, that would be his next line of therapy anyway. If you Google *scleroderma treatment and IV Ig*, you will find many medical articles about it. The immune system obviously has a mind of it's own since Gareth has UCTD and immune deficiencies.....but then again, that's par for Gareth !!! :dont-know::wink: To me, your young friend is reiterating what the rheumatologist said may be the next line of therapy for autoimmune diseases. Obviously, more studies need to be completed for IV Ig infusions and autoimmune diseases, but they are being used for treatment.

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 28 years old, DS/ASD/UCTD/MBL deficiency/Ig 2/4 deficiency


  3. Hi Miocean; it's so hard reading sad posts, but it's a must in life; confronting the good with the bad.

    We're all here to support you; even if we're virtual friends through an invisible connection called the web.

    My heart goes out to you and I will keep you in my thoughts.  You have always been a strong inspiration to me.

     

    :flowers:    :hug-group:

     

    Take care, Everyone.

    Margaret


  4. Hi Keelton,

     

    Gareth also had a 20 pound weight loss, major fatigue, and costrochondritis.  Initially, his diaphragm and larynx were also affected. Being only 18 at the time and the Manometry looking so bad, the gastic doctor ordered the blood work because scleroderma was the only disease he knew of that would cause complete esophageal dysmotility.  

     

    Like others, he has to wash food down with liquids and is on PPI's for severe GERD.  He's had stomach ulcers due to chronic use of anti-inflammatory pain meds.  He had surgery last October and the surgeon ran into major problems associated with internal fibrosis, so I know he's still got *issues* occurring internally that involve other body parts.  Whether you have the diagnosis of scleroderma, UCTD, or MCTD, they all appear differently in each person and the severity can be severe one month and minimal the next.  It's a complicated disease. I hope you can get to a specialist or at the very least, a Rheumatologist who has training for these diseases.

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  5. Hi Keelton,

     

    My son was diagnosed in 2006 due to entire esophageal dismotility, + ANA, and + anti RNA-Polymerase 1/111. His larynx and diaphragm was also affected; strictly internal issues.  He was only 18 at the time and had no skin issues or Raynaud's.  Initially, the local Rheumatologist said  scleroderma but the specialist said UCTD (Undifferentiated connective tissue disease).  It's just as serious. I never understood what the difference is between UCTD and sine scleroderma.    :dont-know:     Anyways, he was put on Plaquenil, which is an anti-malarial drug that jump starts the immune system, which doesn't make sense either since it's your immune system over reacting in the first place!!   :dont-know:    After 3 months on Plaquenil, he did tell me his esophagus was working again. Now, 10 years down the road and still on Plaquenil, he still has dysmotility in the lower 1/3 portion and his esophagus is twisted and contorted like a curly straw due to the hardening. He has to have it stretched every 12-18 months.  That appears to be his most serious issue with this disease.

     

    This site is wonderful and full of up to date information.  Keep us posted on your journey.      :i-care:  

     

    Take care, Everyone. 

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  6. Hi Dimarzio,  just  word of caution.   Gareth was put on Lyrica, probably 6 years ago, and did fine for about 4-5 weeks.  One day he went "schizo" yelling and screaming at me to "stay away",  pointing at me and saying "robot",   "kill me", he thought I was trying to kill him!  I immediately got him to the doctor and blood work showed that his liver functions numbers were sky high and his thyroid had shut down.  Since you're not DS/ASD, I am sure you would be able to feel/notice changes before you get that extreme.  Just be careful.

     

    Take care, Everyone.

    Margaret


  7. Hi Everyone.

    Talk about a small world!! I work two days a week at our place of worship's thrift store. A friend comes in all the time, with her therapy dog, and we talk all the time. Her dog needs major surgery, so the local paper ran an article about it asking for funds to offset the costs. They then talked about my friend having a rare disease, called systemic Scleroderma !! She was in today and I asked her *Where's your Scleroderma?!?!?* She just looked at me, in surprise, when I went on to tell her about Gareth . She was diagnosis'd about 10 years ago, like Gareth. Her's is all internal (R, E, T out of CREST), Sjogren's, and MAJOR fatigue. Ohhhhhh, my! I had no idea. I knew she was *sickly* but she never put a name to her problems. She goes to J Hopkin's Scleroderma clinic. So, now I have another avenue to go down whenever I don't know what's going on with Gareth; of course, you guys are always my first place to run to!! :hug-group:

    Take care, Everyone.
    Margaret
    Mom to Gareth, 27 years old, DS/ASD


  8. Hi Miocean,

     

    I did send you two lists of adverse affects, one for predisone and one for Plaquenil.   As Shelley would say, I am not a doctor, but my guess would be the Prednisone. I'm not sure if you have been on that dosage before, but adverse affects can happen at any time.  I have seen several friends trudge through the adverse affects of Prednisone because it is such a powerful anti inflammatory/pain med.  That being said, Plaquenil can cause skin changes.  The med list for monitoring drug interactions is so long for Prednisone, but much shorter for Plaquenil.  An example, Plaquenil shouldn't be taken if you're also on Methotrexate.  

     

    I know it's not much help, but I will keep you in my thoughts and hope you get over this soon.

     

    Take care, Everyone,

    Margaret


  9. Hi Ed.....I'm curious to know new statistics since the one you posted is from 2003....13 years ago.  I'd be interested to see if those numbers have climbed higher.  Where would a person find newer numbers?

     

    Take care, Everyone.

    Margaret


  10. Hi Franky and Speros.....welcome to the forums.  You can learn a lot here!!!

     

    The flip side of the coin is having all the positive blood work for scleroderma but only internal involvement....no Raynard's, skin issues, etc.  That can lead to a diagnosis of UCTD....Undifferentiated Connective Tissue disease.  Either way, both are serious diseases that need to be treated and followed.

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD/UCTD


  11. Hi Dimarzio.....I chuckled to myself when reading your causes. That's life....that's living....I thought

     

    Seriously, though, I have been second guessing Gareth's medical issues since he was born.

    I did everything right before and during my pregnancy, yet he was born with Down Syndrome.

    He appeared so high functioning mentally and physically, that the DS wasn't really a problem.

    Then, he went downhill developmentally....autism was the diagnosis at age 4-5, back when autism was 1/5000

    kids. Now, it's 1/100 kids. Where did his immune deficiencies come from? Where did the scleroderma/UCTD

    come from? Our only genetic background, family wise, was dad's rheumatoid arthritis. I use to work

    in the hospital labs/morgue, before the boys were born....use to be around a lot of Xylene, formaldehyde, etc.

     

     

    I do believe a lot of medical issues come from generations of technology/advancements messing up all of our genes.

    An example....think about back in the early '50-60's. TV dinners were the new rage...put in brand new microwave

    ovens. There was no FDA or quality control gurus. No one knew what was in the saran wrap that covered the meals

    or the output of the microwave. Women have been using cosmetics, hair coloring, and nail polish/acetone removal

    long before the government stepped in with chemical regulations. What about the deodorant (chemicals) that we

    use daily under our arms? Preservatives were sprayed on apples for years before they found it caused cancer and

    other medical issues. Smoking was the *in thing* ..... *cool thing* back when my dad was growing up in the 40-50's.

    I remember helping to pull asbestos siding off the old farmhouse.....long before it was know to cause Mesothelioma.

     

    I have given up trying to think of causes for illnesses....for Gareth and myself. It's life and I'm not 6 feet under!!! I do

    not regret technology or advances in the medical field....in fact, I usually embrace anything that makes my life easier!!!

    It's a good topic for discussion. I'd love to hear other people's thoughts/ideas.

     

    Take care, Everyone

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  12. Hi Dimarzio,

     

    I do understand your concerns about the odds.  My own son was diagnosed at at age 18 and, upon reading the background of scleroderma, I couldn't believe he had it. My dad did have rheumatoid arthritis, but this was something completely unheard of, with internet information that scared me. Gareth did have all the positive blood work, but only internal involvement. Instead of sine scleroderma, his diagnosis is UCTD.  

     

    At the time, he did not have Raynaud's or skin issues.  It's been 10 years. He was placed on Plaquenil and it has slowed the progression.  He can't take the Methotrexate because he also has immune deficiencies.  I do know the damage it is causing internally. His esophagus has to be stretched every year or so and is twisted and contorted like a curly straw. He recently had neck surgery and it took the doctor an additional two hours to cut through the *wood* to get to his vertebrae. His aorta, esophagus, and trachea had become one solid mass.  I feel very fortunate to have found this site. It's very up to date on information and advice.  He didn't die in the first few years, as I was led to believe by initial research.  He's doing quite well and we take each challenge as it comes.  Do remain optimistic. There are people on this site who have had this disease for 10, 20, 30 years!!

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  13. Hi  Amanda,

     

    That IS very interesting and I am sorry you both have such unique illnesses.  However, I do bet there are research groups out there that would love to drain you both dry, from blood samples, in order to explore such a unique situation!   :wink:

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 26 years old, DS/ASD


  14. Hi Everyone,

     

    Gareth was in on Tuesday, for an Endoscopy.  He's been complaining since December 6th that his stomach hurt, especially when he walked.  We jokingly said it was from overeating turkey, stuffing, pies, cookies, potatoes, etc., but after several days of him refusing to do anything, we knew it was serious. I figured he needed his esophagus stretched again.  Wrong....his esophagus was fine but he has a stomach ulcer near the opening into the small intestine.  Too many pain meds like Etodolac, Motrin, etc. So, the gastroenterologist put him on twice daily Zantac and Prilosec to get that healed.  I didn't know you could feel stomach ulcers, that they were painful.

     

    He was in to see his new rheumatologist yesterday, second meeting with her.  She never did receive a copy of his neck surgery and didn't know anything about the issues the surgeon ran into. I was explaining the neck issues, the stomach issues, and asked her about whether we should increase the Plaquenil, so we could decrease the pain meds.  Very bluntly, she said no.  She went on to explain, in detail, that she would only increase Plaquenil if there was signs of inflammation, which he doesn't have now.  She also said he's on the right amount to prevent eye damage.  She then told me, because of his IVIg infusions, he's getting double therapy for his scleroderma.  Just keep him on the extra strength Tylenol.

     

    She went on to explain that IVIg is being used for autoimmune diseases that don't respond well to *normal* therapies.  She's right out of John Hopkins and told me that she spent a year in the scleroderma clinic there.  *Thank you* I said!!  I do like her; she's very intelligent, to the point, but can explain things on my level...duh, sometimes!!

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  15. Hi Miocean,

     

    Oh, I do hope you can go on vacation.  If you're like Gareth and I, you so look forward to that down time, relaxing with no medical issues/appointments.  I will keep you in my thoughts that the diuretics kick in and work properly.

     

    Take care, Everyone.

    Margaret


  16. I want to wish all my friends a Happy Thanksgiving. I am very thankful for all your help/advice.  I am thankful for the doctors who *get it* and really have feelings for their patients.  I am thankful that I'm able to get my baking done tonight before my back gives out!!!

     

     

    Take care, Everyone.            :happy-dance-birds:  

    Margaret

    Mom to Gareth, 27 years old, DS/ASD                :hug-group:

     


  17. Hi Quiltfairy......I DO understand where you're coming from.  I want to know what is in store for Gareth.  I want to know the damage being done inside, if for no other reason than just to prepare for it.  Just to know that the next organ to go will be his kidneys or his lungs, or his digestive tract.  Just to be prepared!!!  I deal with every step but the *not knowing* is worse, especially since he can't tell me the source of his pain or discomfort.  He will see his rheumatologist in Dec and I will give her an update on the mess he had with his vertebra surgery.  Perhaps, she will have some ideas.

     

    You are all in my thoughts daily.....I can't imagine the pain each one of you go through, mentally and bodily.  Gareth is such a happy, go lucky guy, in nature...... it's so hard for me to watch each downhill slide and try to fix it.

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  18. Hi Judy....I do know what a stoma is but I'm not sure for the reason.....meaning.....is this scleroderma caused?  Does the southern part of the body become harden like the esophagus?  I was under the impression that constipation was the issue with scleroderma.    Do the intestines stop working completely?  Just curious and wanting to learn more.

     

    Have a good day, Everyone.

    Margaret


  19. Hi Jon ..... I hope you are still reading the posts, even if you aren't responding.  When Gareth was diagnosis'd, at age 18, he *shut down* from depression and anxiety.  The doctor told me that the same processes affecting his esophagus/internal organs were affecting the chemicals in his brain.  He has been on depression meds since then....only 10 mg daily, but it did make a difference. Please, don't hesitate to bring this up to your primary care physician.  Depression/anxiety can be a side affect of any autoimmune disease.....it's nothing to be ashamed of.

     

    Take care, Everyone.

    Margaret

    Mom to Gareth, 27 years old, DS/ASD


  20. Morning Shelley,

     

    He is doing VERY well.  He only wears the neck brace when up and around during the day, per doctor's orders.  I keep asking if his legs or shoulders hurt and he says no.   :yes:    He is sleeping though the night -- ALL NIGHT -- no waking up and asking for pain meds !   Another   :yes:   !  

    I had to take him back in, on Monday, due to an allergic reaction to the tape used to cover the incision, Tegraderm.  It's the only one that he had not had a reaction to, in the past, but that changed.  That was totally gross; it was beet red, blistering, and pussing.  He also had signs of post op pneumonia, so the doctor put him on antibiotics as a precaution.  He felt well enough last night to go to his Halloween party.  He wasn't about to miss that one!!  :lol: :lol:

     

    Hope all is well with you.

     

    Take care, Everyone.

    Margaret


  21. Hi Everyone,

     

    He's home -- yeah!! :jump-for-joy: I had my arteries mixed up, though. It wasn't the aorta but the carotid artery that was tangled up with the trachea and esophagus. The doctor certainly did not want to nick that!! Anyways, about his insides. The gastro doctor said last February that his esophagus looked like a twisted, curly straw from the distortion caused by hardening. Now, I hear the extent of damage caused in the neck area by the hardening/fibrosis. Seriously, I am concerned about how much more damage he has on the inside. :dont-know: My sister said I should have a PET scan done and I'm seriously thinking about it!!

    Take care, Everyone.
    Margaret


  22. Hi,

     

    Just wanted to welcome you aboard.  My son was diagnosed with UCTD at age 18.  There are a couple of other parents on this site whose kids have been diagnosed  with scleroderma.  I hope they chime in.

     

    Take care, everyone.

    Margaret


  23. Hi Jon,

     

    My son, Gareth, now 27 years old, was diagnosed with UCTD at age 18.  He has the positive blood work for scleroderma,  no skin issues, just all internal damage.  Needless to say,  I just realized how *silent* of a disease it is with his vertebra surgery, two days ago. 

     

    This is a fantastic site with so much worthy information.  Continue to share your concerns and someone will chime in with useful information.  I am here because he also has Down Syndrome and Autism, making his communication skills very limited.

     

    Take care, everyone.

    Margaret


  24. Hi Everyone,

     

    The doctor came in for a chat today and checked up on Gareth.  He said it was like cutting through wood around his tissues.    :wink:  Not the soft, pliable connective tissue one usually has.  He said he had to take multiple X-rays during it to pin-point exactly where he was through and how much deeper he needed to go. He also said he had his team on some Medical internet site searching for scleroderma related issues in surgery.   :wink: Gareth may have the UCTD label, but he said his insides are harden like wood and that is scleroderma. I did ask him to mail a copy of his report to his new rheumatologist.  Gareth had a horrible night and morning, vomiting from the anesthesia.  Tonight he is much better and doctor said he could go home tomorrow, barring any complications tonight.

     

    Take care, everyone,  :thank-you: :thank-you:  for all the thoughts and well wishes for Gareth

    Margaret

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