Answers = hope!

January 4, 2013

So today (Friday) came.  First, let me thank each of you who wrote me messages, sent me texts, prayed, and cried with me… especially this week.  I failed in writing each one back a personal thank you, but please know I deeply appreciated it and wish I had time to write each of you personally.  THANK YOU.  Thank you from the bottom of my heart especially for your prayers.  Today felt like it would never come! 

I’ll start at the beginning of the day, and although it was an incredibly long appointment (4 hrs WITH the team of doctors at Duke!), I won’t give you all the details… just the important ones you probably want to know J  Let me start with yesterday though… every time I got in the car, there was the same song on the radio… I know it was there for me as I felt like it was the longest 24 hrs ever yesterday!  It was a song by Meredith Andrews called “Not for a Moment”.  http://www.youtube.com/watch?v=XD0cvWImVjA&feature=youtu.be  Let me preface this by saying I’m not very good at listening to “uplifting worship” music all the time, so don’t be fooled.  Just this week, I’ve felt a nudge to turn my car stereo to KLOVE, which usually doesn’t come in well at all in my car, and I usually change quickly to country, or some quality 80s music J  But this week, it’s been clear all week.  Guess God knew I needed it, because this week has been full of songs that I’m certain were just for me.  So I held to this song yesterday. 

This morning, as I got into the car with Kai to head to Duke, a song by Kutless called “Even If” came on.  http://www.youtube.com/watch?v=HqOkZiOb9u0&feature=youtu.be  Again… just for me, but as I drove to drop off my girls at school before heading to Duke with Kai, the tears were already falling.  My overwhelmed heart seemed to just fall apart.  I found the song on YouTube on my phone, and just kept replaying it all morning as we drove the ½ hr drive (gotta love traffic) to Duke.  As soon as we arrived and checked in, we were taken to our special little waiting room for our specialist.  Within minutes, our lead doctor came out.  Her eyes were red, but I didn’t think anything of it.  Mine were too J  She excitedly said that she was running a bit behind and would probably be another 20 minutes, but that she couldn’t wait to see us because she felt that for the first time in nearly 4 years, she had some answers and some direction!  Then, her eyes filled and she quickly turned and left the room.  My eyes filled… again… and overflowed… again.  Would we really be able to have some HOPE today?!  After nearly 4 years of going in and out of literally hundreds of appointments with NO answers, ZERO, nada, not a single clue… and then today, we might have something?!  I didn’t really know how to process that little sentence she had just walked out with.  I guess I didn’t really have much faith walking in to the appointment.  I think I just protected myself, not letting myself believe because I didn’t want to have my hopes crushed yet again.  But suddenly there was something?!  I could hardly sit still the next few minutes.  I was glad for the little special needs girl in the waiting area with me who seemed to take an interest in me and asked me the same questions 45 times to make the next 20 minutes pass more quickly! 

We finally got to see the doctor, after what seemed like an eternity.  Let me start by telling you she is one of the most incredible doctors I’ve ever met… and I’ve met A LOT!  She genuinely cares, and she is fantastic at putting all the genetic garble that I don’t understand in the least into words that I can understand and make sense of.  She pulled up a chair next to Kai first, and chatted with him about Christmas and school, and then told him he could play his games (thankfully, Kevin had brought his Tablet so Kai could play games online!) while she talked to us.  She moved her seat over to sit by us and began talking.  First, she went through a full explanation of the test and what all the pages and pages of info that she had just handed me really meant.  She highlighted all the things they had ruled out … Ataxia Telangiectasia, Friedreich's Ataxia, Batten Disease, and Bethelem Myopathy to name a few of the major ones.  I think I started to finally breathe then.  Answers!!  I wish I could explain to you the emotions behind just not knowing… and then finally just having SOMETHING.  Even if it’s something it’s NOT.  SOMETHING.  For me, that’s movement.  Progress.  But she didn’t stop there either.  They had found a major abnormality in his SETX gene.  Don’t worry… we had NO clue what that was either.  It’s the gene that’s associated with ALS (Lou Gehrig’s Disease), but apparently the abnormality can be 2 different types… one is associated with ALS, and the other is Kai’s.  His is called Ataxia with Oculomotor Apraxia Type 2 (AOA2).  A DIAGNOSIS!!!!!!!!!!!!!  (yep, insert fighting back tears!)  We spent the next 2 hrs having her explain to us what this disease is, what it means for Kai, what it looks like, and what our next steps will be.  It’s an extremely rare genetic disease that there’s not a lot of research about, so it will be a challenge moving forward, but at least it’s moving forward!  It’s progressive.  No cure.  But treatment will involve Physical Therapy, Occupational Therapy, and Speech Therapy 2-3 times EACH every week.  Somehow, we’ll make that happen.  Right now I can’t think on that stressor… I am taking today to celebrate an answer.  The disease affects his vision, neuro-muscular ability, speech, fine motor control, and cholesterol (yes, odd I know!).  They have already set up 4 new specialist appointments… one for us to begin to get him help in the school (they will MANDATE the IEP that I’ve been fighting for 2 yrs to get!  As well as they will help fight for the modifications and adaptations he needs in the classroom like a personal laptop/i-pad (no more handwriting and this will help with the fatigue caused by looking constantly up and down from the board to the desk for work!!  This disease causes extreme fatigue with that eye movement, which helps explain his extreme fatigue after school each day!), they will send him to a Pediatric Dietitian who specializes in rare genetic conditions (the disease causes unexplainable high cholesterol… something we found in Kai 2 yrs ago but could never explain because of our VERY strict diet at home already), an eye dr who specializes in Neuro-muscular eye diseases, and a specialist at the Muscular Dystrophy Association clinic who will hopefully be able to help us with adaptations and accommodations to help Kai. 

After 2 hrs of explaining things to us and answers hundreds of my questions, they ordered more labs done today, and then she stood to leave and her eyes filled with tears again.  She grabbed me and hugged me tight and whispered in my ear… “we’re finally moving forward.  I’m so thankful for answers for you and your sweet boy.  We’re going to figure this out together.”  Then, she turned and asked Kevin if he minded if she could hug him too J Yep… this mama couldn’t hold back the tears.  Answers.  Finally.  And the cherry on top is a doctor who cares enough to explain and cry tears of frustration and tears of joy with a mom.  It felt like she stepped out of her doctor coat and stepped into her fellow mom shoes for just a minute as we let tears of relief and joy fall. 

Yes, this is only the beginning of yet another long road.  Yes, there’s LOTS more doctors visits to come.  Yes, we still have to fight insurance, and since it’s a new year, we start fighting all over again.  Yes, the expenses are beyond out of control.  Yes, there’s no cure.  Yes, God hears, listens, and answers (sometimes not so much the way we want either).  BUT… WE AREN’T STUCK!!!  We may still be in the middle of the storm, but today was a little break in the clouds that we desperately needed.  God heard and answered today… as He does every day… but today just felt a little more tangible.