Tuesday, August 28, 2012

Disease progression despite so many meds...

Back in April 2008, our old rheumatologist thought that perhaps Emily could have Scleroderma.  I didn't know what it was, but trying to be the informed parent, I promptly went home and looked it up.  Then I wished that I hadn't.  This was the first "too real" situation that we found ourselves in.  Trying to compare diseases with limited knowledge, I thought that she had something called CREST syndrome.  "CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome is a member of the heterogeneous group of sclerodermas, and its name is an acronym for the cardinal clinical features of the syndrome."  Bottom line?  It messes you up.

I learned that there are different types of Scleroderma.  There is one type that is called linear; it mainly affects the skin, causing the skin to darken and harden.  It can harden to the extent that it can restrict movement.  It can cause disfigurement.  Then there's Ssc, or Systemic Sclerosis.  This is what really scared me.  The literal translation for Scleroderma is "stone skin".  In Ssc, it can literally harden your internal organs.  Think about it- think of things like hardening of the arteries.  It can slowly harden your insides.  I spent a good two months absolutely sure that this was her problem.... and then we were told that it wasn't.  Phew!, right?  Ok, so another little gem that I have learned is, just because something is ruled out, doesn't mean it will stay out.  Since her old rheumy failed her so badly, we tried to just be more watchful, and of course I started to really research everything.  Lord knows, as my wonderful hubby said tonight, if we stayed in his practice she likely would have been dead last year.  So, it felt like, if I could just research enough, maybe I could find a clue that other couldn't.  Pretty farfetched, yes.  But, it helped me to at least feel like I had an active role and I was doing stuff, not to mention educating myself and anyone else that would listen.

We noticed that her wrists had linear scleroderma, and she had the sclerodactyl hands, which is basically when the hands look like swollen sausages, and of course the Raynaud's was severe.  When we learned for sure that she tested positively for Mixed Connective Tissue Disease, I learned that MCTD can stay the same, go into remission, or it could morph into either Lupus or Scleroderma.  I think I have always seen more Scleroderma features with her than anything.  I decided that I wasn't going to worry about it until we had to, which we hadn't had to do.

That said, Monday we discussed her test results from the chest CT, Echo, swallow study, and whatever the heck else we did.  If you read my post after we did the swallow study, you may remember that I was able to watch the test being done myself, and I saw problems.  The doctor that ran the testing and the 3 techs that were present didn't know what to do.  They called in another doctor for guidance.  The problem was that the barium dye wasn't going away.  They sat her up, laid her down, turned her side to side, but it wouldn't fully leave her esophagus.  Well, apparently her esophagus has narrowed down near her stomach.  Not much is able to get through, leaving her feeling nauseous and refluxing.  She is barely able to eat.  While I knew that there were problems here, I really thought that it would be the muscles from a Dermatomyositis flare, which attacks the muscles of the throat so they are too weak to work properly.  This is more of a Scleroderma feature.  That threw me for a loop.

While I was still reeling from that, he pulls up pictures of her lungs.  He shows me that they can see changes around the base of the lungs.  They look different from her last few tests.  While it doesn't show that she has Interstitial Lung Disease, her lungs are likely trending that way.  Pulminary Fibrosis is one of the hallmarks of MCTD and Scleroderma.  I don't remember a whole lot of the rest of the day.  I focused a lot on trying not to cry.

So, the new plan is to stop her Methotrexate.  She has not been a fan of that one lately, anyway.  In place of MTX, we are switching her to a stronger medicine called CellCept.  The hope is that, if we hit it hard enough, it will bounce back down.  Like, if you start to treat a flare at the beginning, it will usually respond much more quickly than if you let it go.  This is similar in theory.  I can't even find any info on this one that doesn't pertain to transplant patients.  It has a ton of warnings.  It does not look like a fun med.  Yeah, and because it causes such a high risk of infections, she may have to start a sulfa antibiotic daily with it.  It sounds terrifying.  And yet, what choice do we have?

We have a dear friend who is very similar to Emily.  We heard tonight from another dear friend that friend #1 has ditched most of her meds and is working on a holistic approach.  I have heard that she is doing very well this way.  I don't even know where to start, but I will ask them about it a bit.  It may be a while before we can afford something like that, but I will look into it.

The funny thing is that Emily didn't even have an appointment this time.  We discussed all of this in Zachary's appointment.  The bad side of that is I don't think we really talked much about Zachary.  Maybe we did and I missed it... I don't know.  The only thing that I clearly remember is that I asked if his white patches will go away from where his old psoriasis lesions were.  I had hoped they weren't Vitiligo.  I was assured that they are not; it simply takes a while for the skin to go back to normal since he had so many lesions and for such a long period of time.  And I got a new MTX prescription for him. That's all I remember there.  

 So, here we are again in territory that none of us is comfortable with, that makes it all too real.  I try so hard to be positive, but I have to be real, too.  People need to know that these diseases are out there, and they are scary and life-threatening.  I am thankful that we are homeschooling this year.  At least she won't pick up any nasty bugs at school.  School stuff will be on the Homeschooling blog.  A new post should be up this week!



  1. you and your family continue to be in my heart and daily prayers. Parker said a prayer for Em last night. I am going to stay hopeful that the change in meds is going to stop this in its tracks. Please know I am here if you need ANYTHING.

  2. I think I know friend #1 that you are referring to. I have watched the transformation of their daughter as the holistic approach has been in the works ... I have to say, I have been BLOWN AWAY by the positive changes I've seen in their daughter. I have watched her physically transform right before my eyes over the last many months. You have to take the steps that are right for you and for your family ... but yes, I'd encourage you to at least have a conversation with friend #1 b/c WOW ... her child's body, personality and overall child-like spirit are becoming radiant again. It's been amazing to see.

    Sending love and support to you and your family and to all the families dealing with the frustration and heartbreak of loving children through these harrowing challenges.

  3. "Yeah, and because it causes such a high risk of infections, she may have to start a sulfa antibiotic daily with it."

    If she will be on an antibiotic anyway, check out and see if there is one that will work for this instance that people also have had success with for scleroderma. Best wishes.

  4. Dynamic sickness or dynamic ailment is an ailment or physical infirmity whose course much of the time is the intensifying, development, or spread of the illness.