Moving forward

January 12, 2013

So the journey forward has finally begun.  That's a bittersweet movement, much more than I ever realized.  I think my brain was so used to walking into a doctor's appointment with Kai, and walking back out a few hours later with "I'm sorry ma'am, your son is just such a mystery, and we are going to do the following tests... but everything so far has come back inconclusive and we just don't know..."  Suddenly, after 4 years of "we just don't know", we walked out of a 3 hour appointment with a name of something they are 95% certain is at least 1 of the diseases that is challenging my little 8 year old's ability to function.  Suddenly, I had a LOT of processing to do, and a lot of detailed specific research to do, and at least a dozen new specialists that would suddenly be added to our team of physicians.
So Thursday, the new journey began.  I took Kai to Charlotte to the Charlotte Levine Children's Center to be seen by his peds neurologist there, as well as a new doctor... the one that if you remember a few months ago we went to see after a full yr wait, and they had put us on the schedule for the wrong dr... yep, that one. She's a Neuro-muscular geneticist.  That's a fancy way of saying she's a highly specialized dr in neuro-muscular and movement diseases.  After an hr of waiting (because the front desk said I wasn't in the system... even though I had the written letter from the dr stating our appointment!  But that's a whole other story for another day, and we'll just leave those details out for now and I'll let you know we DID finally get back to see both specialists, thank God, because it was about to get UGLY!), we were ushered back to see the 2 specialists we had driven down for.  They spent a full 2+ hours with us.  Thankfully, they had a tv in the room and let Kai watch cartoons while we talked.  They gave me at least 2 dozen pages of information, and walked thru each detail of the pages with me.  I was thankful for the written information, as I often find that I hear something and my brain hits a "freeze" mode and they continue talking and my brain has stopped hearing, so having the papers to see and be able to go back through was very helpful.  It wasn't a lot of new stuff that I hadn't already researched on my own in the 5 days leading up to the appointment, but I think just hearing it from an actual doctor and not just reading it on the internet somehow made it more real and overwhelming.  It just feels more real when someone says it to your face.  When they look at you and tell you there's greater than 2/3 chance that at least one of your other kids are carriers and will show signs and symptoms of the same disease, it's hard not to feel the tears well to the top.  When they tell you they don't know a single doctor who treats this disease but then hand you a list of research articles to look up the author's who wrote them and try to contact them to see if they would be of any help, that's overwhelming (especially when after doing my research, I found that they are in Italy, France, and Mexico!  Vacation anyone?!).  Somehow, hearing it aloud instead of reading it on a computer screen makes it all come to life.  You can't just wish you were in a bad dream anymore because there's someone actually there to pinch you and let you know it's all real.
The team in Charlotte also said they are wanting to continue to test and research Kai, as they also feel that he has an incredibly rare disease called Bethlem Myopathy on top of this Ataxia with Oculomotor Apraxia Type 2 (AOA2).  This Bethlem Myopathy has only been documented in less than 100 families worldwide, so VERY rare.  So they are going to pursue more testing for this as well.  The good in that is that IF he does indeed have this additional disease, it doesn't change the course of treatment... meaning there's no cure, and the only treatment to try to slow it's progression is the same as with AOA2... more therapies.  They now have the job of convincing Duke to send off Kai's remaining portion of his muscle biopsy that he had a year ago (it's flash frozen and saved at the lab) for the staining tests to determine whether or not he has this Bethlem Myopathy, and Duke is hesitant so they now get to debate each other on the necessity of this test.
They gave me a page long typed "to do" list of specialists they want me to research and try to contact, doctors he needs to have appointments set up with, foundations and data bases they want me to register Kai in, evaluations he needs to have at school, and referrals to other specialists they are sending us to.  I've decided I need a clone of myself to research and make all the necessary phone calls and appointments :)  I also think I will have earned some sort of new degree by the time all this is done!  YIKES!
So yet another chapter begins... I spent Thursday and Friday incredibly overwhelmed and not even knowing how to start.  I have some precious friends who have held me up through this, and every day that passes, I'm more and more grateful for the friends God's put in my path.  It's not every day that you find friends who will walk through the very dark times with you and not abandon you as a friend because they're tired of hearing your "drama".  So from long distance messages and phone calls, to nearby hugs and shared tears and listening ears, I'm incredibly thankful.  Today, it's a new day, and "His mercies are new every morning"... I'm very thankful for that!  Our VERY special genetic counselor at Duke called me at 4:30pm yesterday (Fri) to just check in and see how I was holding up and if I had any questions for her after my trip to Charlotte... and then I got an e-mail from our amazing PT here saying she was researching and working over this weekend (her time off!) to find out how best she can support him on the therapy end.  I know I've said it before, but I can't say enough how much that means to have such an AMAZING team on our side.  They make the dark days much easier!  It's a LONG road ahead, and definitely not an easy one as I know that I will watch  my little boy slowly lose the strength and abilities that he has worked SO hard to build, but one I know I can only take one day at a time... sometimes just one hour at a time.  And for today, I'm going to watch my little fighter enjoy the beautiful 70 degree sunshine of North Carolina with his brother and sisters.  I'm going to watch him run and play with his friends.  I'm going to listen to him giggle as he watches The Little Rascals.  I'm going to laugh as I watch him play Just Dance on the Wii with his sisters.  I'm going to listen to him fight with his siblings as viscous as he fights this disease that's attacking his body.  And I'm going to be thankful for today, and for the fight and determination that he's made of.  Today, I won't think about all the research that is telling me that he will be in a wheelchair within the next 10-15 years, because I know my boy, and I know he's a fighter.  I also know he has Jesus.  And with Jesus, anything is possible, so I'm going to hold on to hope and pray that my little boy fights with all he's got and defies the odds.  Today, we'll celebrate his brother's 4th birthday and forget about the pain for just a bit and smile and laugh and wrestle and jump on the trampoline and just "be" for a day...before the wildness of the coming week FULL of more doctors and tests and consultations and phone calls begins again.