Thursday, May 31, 2012

Where to begin?

What happens when I don't post for a few months?  A lot.   Mostly not that great, but there is a light at the end of the tunnel, so to speak.

Over the last couple of months, Val and I have watched our sweet girl lose a lot of skills she worked hard to achieve.  As a parent, that is hard to watch.  Despite cognitively being as she always has been (and yes, we are lucky and grateful for that), her motor skills have really declined, with no real explanation other than disease progression.  She's lost more function in her right hand/arm, her left hand is now less coordinated, her walking has tanked despite a bigger brace on her right foot, her chewing/swallowing has become labored and her speech more difficult to understand, and her anxiety has increased again.

Last week we reached out to our local metabolic doc who after hearing our description of issues, was concerned about a stroke.  Due to Samantha's mutation, she absolutely is at risk of strokes.  However, we suspected it was not something as acute as a stroke as we have seen these changes occur gradually (although the last few weeks it does seem they progressed faster).  Nonetheless, it was decided we would make a trip to the ER to rule out a stroke.  We were stubborn and waited until the morning as we were not up for taking a sleepy kid to the ER to be poked and prodded.  Once the ER folks examined Sam and talked with us, a stroke was soon ruled out.  The neurologist on call was very sweet to us, but really did not suggest much in terms of how to help Samantha get back to where she was a few months ago.  Instead, she gave us the "look" and talked about quality of life.  While we appreciate how serious a diagnosis Leigh's is, we are not quite ready for that talk yet, and we have seen our girl bounce back before.

We went home a bit (a lot) deflated last week and began to deal with more anxiety in our girl caused by the day at the ER.  Deciding that perhaps the local, nationally acclaimed hospital might not be what we always need, we reached out to Dr. C in Ohio again.  Val talked with him at length on the phone and via email, and it was decided we should go out and see him ASAP.  In addition, we decided that despite the distance, we would prefer to have him be our primary neurologist going forward. To be honest, the neurologist we've felt the most connection to at our local hospital is leaving in July anyway, so this is actually perfect timing.

Through small miracles and the generosity of kind people, we were able to get to Ohio yesterday on a private flight (trying to get a commercial flight squared away for a trach/vent kid in less than a few days is darn near impossible, and driving would have Val away from patients far too long).

Dr. C spent many hours with us yesterday and today.  He felt there were some holes in Samantha's treatment plan and was willing to provide hope that perhaps we can get Samantha back to where she was a few months ago.  Hope is good. Very good.  Dr. C is increasing a few meds, and adding two more. In addition, we are going to give Samantha a couple of hours of "vent" time during the day to see if that helps conserve her energy level.  Finally, she had two blood draws today to see how well she is absorbing the EPI-743.  If she is not absorbing it as she should, there are definite ways to help fix that problem.

The truth is, as wonderful as Dr. C is (and I do mean truly wonderful), there is no guarantee that any of this will work. The other truth is, as a parent and primary caregiver to the most wonderful being in the world, this man is the best thing that we have found for her.  Val and I trust him, and his desire to help. We believe in him.  And, he believes in Sam getting better.  Even if none of this works, it is comforting to know that we have given our daughter's care to someone we feel truly deserves the honor.

Until next time,



  1. I have seriously considered making the trip to Ohio to see the infamous Dr. C. I've heard him speak before and in addition to being extremely intelligent, I got the feeling that he genuinely cared about his patients. We want that for our daughter! We lost our primary neuro a year ago when he moved to New York, so there's really nothing holding us back now except the distance! I'm wondering now if maybe we should revisit the idea of going to see him!!!

  2. ((((hugs))) sorry your sweet girl is struggling more, I pray Dr. C. will be able to help her get back to her baseline soon... so good you have a Dr thats so positive and anxious to improves things. Ive heard such good things about him. Lots of hugs and prayers for you all--

  3. Monica it's been ages since my life has allowed me to look up past friends and I am so sorry to see how much of a struggle it has been for Sam.

    I too continually remind myself how Brandon has shown us phenomenal come backs.

    I wanted to suggest you ask about a particular treatment option (I HATE when people play the "have you tried this" game, but it's been such a lifesaver (I mean that literally) for Brandon - but mostly it has given his quality of life a tremendous boost.

    In 2008 Brandon stopped walking after a viral illness. Like Sam he had worked so hard on gross and fine motor and speech goals etc (he too is cognitively unaffected - which in some ways compounds the heartbreak) only to lose them in 12 hours when he aspirates etc.

    A new neuro suggested we trial Sinimet (L-Dopa - it's a parkinson's medication). Much of the damage in Brandon's brainstem is localized to the structures of and around the basal ganglia - the same damage pattern seen in parkinsons disease (though with a lot of additional 'non-parkinsonian' damage on top of it).

    They suggested a trial of the Sinimet, just to see if we couldn't at least improve his coordination and motor skills. He started in March '08 (or '09?) and in September, almost a full year after he stopped walking, he quite literally stood up, hours after a higher dosage, and walked across the room grinning.... it was phenomenal.

    We've since watched him make continual smaller gains (along with smaller losses - they are a bit easier to swallow when there is some progress to focus on...).

    Anyways - the parkinson's med surprised us - not only was the shocking stuff there (walking, new vocals, etc) but the smaller gains over the past few years have been amazing as well - his eating has improved, his fine and gross motor skills have improved, and his swallowing has improved (most drastic - we were averaging an aspiration admission every 8 weeks - we're onto 3 years without an admission this summer!) Nothing huge - but little steps - beautiful wondrous little steps....

    I realize it only works in very specific settings, and I'm sure Dr C would have brought it up if it might work for you guys - but keep it in mind - it may be worth inquiring about...

    That said - there is nothing that quite matches the comfort that comes with KNOWING your child is being cared for by THE best... We did a chart consult with Dr K in Boston, and his very in depth report stated that the workup and care Brandon was receiving was hands down one of the best he'd ever seen on a referred case - Because of him we live every day with that same comfort of knowing we HAVE done everything we can to make sure he gets the best. I'm thrilled for Sam that she has Mom's that have caught out the same exhausting answers. our 5-year struggle for answers was brutal - but worth every second for the peace of mind we get today.

    My love is with you 3 always.

  4. Raegan - I too have met Dr C at the 2007 Mito Symposium - I lucked into the opportunity to actually sit down with him at one of the 'meet the mito doc' sessions (one on one chance for folks to ask different docs questions in a semi-private setting - very huge benefit to the symposium trip for me!) and I can say his compassion extends beyond his patients - he really seemed to genuinely CARE about Brandon and my questions etc... he's an amazing guy!
    There are a handful of very close peers in the field across the states - but he is definitely a demigod in the field... and one with a great bedside manner at that!