Wednesday, June 1, 2011


Back on May 11th, I eluded to a piece of potential good news, but I stated that I needed more info before I could really discuss it.  Well, here goes...

First, I hope you didn't pin your hopes to that statement, as it hasn't exactly turned out as I'd hoped.

Several weeks ago, after I had posted something about Peyton's hyperflexibility on facebook, a friend commented back to me about a syndrome he had heard about that sounded similar to what he'd heard me mention about Peyton.  I looked into it and, WOW, Peyton had something like 20+ of the symptoms of this particular syndrome.  It's called Ehlers-Danlos Syndrome.  There are several forms of this syndrome.  Ron and I got pretty excited that after 5 years we may finally be on to something.  As Peyton would see doctors and therapists after this discovery, I would mention it to them.  I even have a checklist of symptoms printed out and in her go bag, ready to show whoever I could show it to at MUSC.  As I would show it to various specialists, they all would say how interesting it was and how it was certainly worth looking into.

I had contacted Peyton's neurologist about this, as we had been discussing the extent to which we'd go to figure out a diagnosis when we saw him in April.  I urged him to speak with genetics and even to possibly contact her former geneticist in Houston.  I didn't get very far with this, but when I brought Peyton to the pediatrician for her well child check up a couple weeks ago, his office put in the call to genetics for me (here at MUSC).  That led to the nurse in genetics calling me, getting some info, and then ultimately letting me speak on the phone directly with Peyton's geneticist.  I mentioned my thoughts on this syndrome.  He preferred to see Peyton in the clinic, but our next appointment wasn't until September.  He put me back through to his nurse and she rescheduled us for June

Over the past few weeks or so, I've been getting pretty pumped up about the possibility of having a diagnosis.  Please note, this would NOT cover EVERY issue Peyton deals with.  It's long been my feeling that she could have multiple syndromes.  I knew going into today's appointment that there was the chance that the doctor could completely disagree with my thinking she could have EDS.  I knew going into today's appointment that even a diagnosis of EDS wouldn't cover every issue.  I knew I was taking a chance by bringing this up.  However, as they say, nothing ventured nothing gained.

So, the good news I was hoping to be able to share with you was that of a diagnosis.  I'm not doing that.  I can't.  It isn't what we're dealing with - most likely.  While she has several of the symptoms of EDS, it's quite possible they are symptoms associated with something else as well...we just don't know what that.  You see, people with EDS do not have the level of neurological impairment that Peyton has.  

But here's the good news.  The doctor did a very thorough physical examination of her - noting various odd bruises she's been getting, the clubbing of her toes, and other physical 'deformities' (for lack of a better word).  He talked a lot.  At first, I was fairly discouraged, but as time progressed, it started to make some sense and he seemed to want to try to help with something this visit.  In the 3 years we've been here, there's been nothing that genetics could do for Peyton here that hadn't already been done in Texas.  At the end of the appointment, we were sent to the lab where they drew blood for a few different tests he wanted done.  I have no idea how long it will take to have answers from those.  I know from past experience, genetics testing is not instantaneous - it can take weeks.  

While that bloodwork is being processed, the geneticist is going to get with the neurologist to discuss Peyton.  They are both thinking of a possibility of a mitochondrial disorder.  This involves further testing.  The unfortunate part of this story is that testing for a mitochondrial disorder isn't via a simple blood test.  It is done with a muscle biopsy.  Ouch!!  The doctors will discuss this and get back with me.  It sounds like it will definitely be done.  It is going to take a bit of a coordinated effort to get it set up though.  MUSC can't actually process the biopsied sample.  It has to be sent to some lab in Atlanta, GA, so it will involve some coordination with that lab.  I'm not sure if it's just a "stand alone" lab it's going to or if it's going to somewhere like Emory or another large medical facility.  I just know it can't be done here.  The biopsy, yes.  The study of the sample, no.  It will involve an overnight admission whenever it does happen.

So, that's my story.  It's not the awesome news I had been hoping for, but it is good news in that we're trying to figure this thing out.  I feel, today, like we're back on the road to trying to get a diagnosis.  Not that they weren't doing anything before - they couldn't!  You can't just run random tests for no good reason - when they have no clue what they're dealing with, you can't run tests!!  All the "general" genetics tests were run long, long ago.  Any testing now has to be fairly specific.

I would just ask that you pray for wisdom for the doctors.  Pray for knowledge, understanding and guidance in trying to pin down a diagnosis for Peyton.  As always, we know that even all these tests could turn up nothing for us.  I would ask also that you pray for peace and understanding for us no matter what the results are - whether there are results to report or not.  And pray for Peyton because she's the one physically impacted by the testing process and she's the one living in that little body that's shrouded in mystery for all of us.

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