an uphill climb

February 9, 2013

So as I sit and write this, it's pitch dark, WAY too early in the morning, but I'm enjoying the silence since I can't sleep and going to drink a cup of coffee and update my blog instead :)
It's been a WILD past few weeks.  Full of specialists, meetings, paperwork, therapies, insurance fights... the list goes on but I won't complain because I'm thankful I've been able to get it all done and even mix in a bit of fun with the kids while at it!  So since my brain isn't fully awake yet, I just wanted to give a quick update as SO many of you friends and family have prayed, written me notes, texts, e-mails, called, made meals, and watched my kids...and I've totally dropped the ball on writing thank you's and giving updates in all the chaos.  So I'll condense it and give a snapshot version of life the past little bit...
A few weeks ago, I met with Kai's school team (twice actually) to begin the fight (again) for an IEP that would allow additional accommodations for him at school, as well as would hopefully begin to provide at least 1 therapy a week for him at school to minimize the amount of therapies I had to take him to outside of school (drs were wanting 3 per wk per therapy... PT, OT and Speech).  The first meeting was to update his 504 plan with his new diagnosis... second meeting was even bigger, and with a whole team to begin the fight for the IEP.  I honestly don't know how to say the meetings went, as they now technically have 90 days to do their own evaluations, read additional drs documentations on Kai, and make a decision... so I'm just waiting... again (I told you I've gotten good at that!).
The following week, I spent a day with Kai at a Duke Pediatric Child Development Specialist.  That's a fancy way of saying a doctor who knows how to help write ways to adapt to best help your child, and they also know the school system ins and outs to be able to help fight the schools for the IEP, as well as all the necessary parts of the IEP for your child.  This dr was fantastic, and is working right now on using all the current evals from Kai's therapists, as well as the school's own testing, to write a letter of insistence on why Kai needs an IEP asap, as well as helping lay out the specific things that will best help him function in the classroom at his maximum potential!  I will be meeting with her in another 2 weeks to go over that letter, and finalize all the details with her before I present the fight to the school.
Mix in there some therapies, time for playdates and pool fun (since my kids were all tracked out!), TaeKwonDo testing (and I have to pause here to just brag a little on my little fighter!  For those who don't know, Taekwondo is a martial art that requires a lot of discipline, power, and skills.  It's a fun family thing we started doing together over a year and a half ago, and Kai loves it.  It requires 10x the amount of work for him to do just 1 stance as it does the rest of us because his little body just doesn't stand still, but he fights, and he does his best!  And he has an amazing big sister who has taken him under her wing at TKD and loves to help encourage him, not to mention the incredible group of instructors who lead it and have been instrumental in Kai's progress and success too!  A HUGE blessing!  And so after 3+ hours of testing a week ago, my little man passed and graduated to his Orange Belt!!), and loads of other doctors appointments for my other 3 kids who were also tracked out and needing some TLC :)

So...the week ended last week with a VERY long call from a specialist at UCLA who is one of the lead researchers in the world for AOA2 (that's the short form of Kai's diagnosis!).  He was awesome.  He had spent the week reviewing all Kai's medical records, and he wanted to talk more.  I spent well over an hour on the phone with him, and he got lots more info, and had lots more questions for me.  The short version of that call is that he wants to see Kai at UCLA as soon as possible.  We are currently scheduled to see a specialist at Johns Hopkins later in May, but he wants me to bring Kai out to see him if possible before May so that he can do his own testing and evaluations, and help coordinate care with our specialists at Duke and Johns Hopkins.  The kicker is that he is seriously questioning the diagnosis.  IF indeed Kai has this, he will be THE youngest case ever documented.  There's quite a few things that are raising red flags for him in the diagnosis with Kai, but unfortunately, there is no one specific test that says yes or no you have or do not have this disease.  It's just an accumulation of lots of tests, symptoms, etc... and then they put the label on.  He has his doubts, as he currently sees 12 patients from all around the US with AOA2, and said there's just certain things (I'll spare you the details because they're pretty specific) that don't match up... but then there's certain things that match perfectly, thus raising the question of is it or is it not AOA2?!  So... currently I'm working on the plan to get to UCLA either in late March or sometime in April.  There's LOTS of details involved in that planning process, so I've been working endlessly on that, and hopefully will know more details of the dates by the end of next week.  I've been blessed with some incredible friends though... helping with airline tickets, calling their friends in Cali to see if we can have a place to stay, offering to help watch my other 3 kiddos, etc... it wouldn't be possible without them!  So I'm eternally grateful!
So where does that leave me...
On an uphill climb.  I was just beginning to process actually having a diagnosis, and walking forward with what that all meant for us (if you're curious, you can google Ataxia with Oculomotor Apraxia Type 2... you 'll see a snipit of the LOADS of information I've been trying to digest!).  And now another question mark?!  Back to unknowns?  So yes... I do feel UCLA is critical (some have asked me that considering the expense and time it will take).  I have to do this for Kai.  And I have to do this for me.  I need to know whether or not this is what we're fighting.  Because if it is, I need to be able to walk forward with it.  But if it's not, I need to go back to base camp and begin the fight for a diagnosis all over again so that I can figure out how I can best help my little guy!
I'll keep you posted...
Monday, we head to another new specialist at Duke who will be working on the neuro-muscular vision piece of this disease (if you read about AOA2, you'll see 50% of the patients have a neuro-muscular vision struggle with it that's pretty serious).  We're not sure if Kai has this, but Monday should help give some clarity to that, at least for the time being.  We'll see...
It's a 1 day at a time... 1 foot in front of the other, journey.
And as you can tell (5am now).... I'm pretty sleepless processing it all :/
But thank you for your prayers and encouragement of every form!  Seriously, I cannot say thank you enough.  You have been my lifeline as I hold on to threads of hope.  As my amazing daddy messaged me last week, I don't have to keep holding on, because I can know that even when I let go, HE's still there with open arms to catch my fall (or in my case... meltdown!).  That's hope.  Somehow, in the middle of this stormy mountain climb, HE's got it under control.