Let me back up a bit... the week before Kai and I left for California, I had my final fight with the school regarding the IEP (individualized education plan) that I've been fighting to get for Kai for over 3 years now. Consistently, the school board has denied the request stating that with no diagnosis and a child that is very intelligent, he doesn't need one. Each and every time we met, I fought long and hard, armed with doctor's letters, testing results, and everything else I could think of (even an attorney from Duke one of the times!) to try to prove to them that my son needed the IEP because he wasn't performing at his potential level, and every day was a struggle that he would fight thru to be "normal", and then would come home and cave in with tears and extreme fatigue. See, Kai's disease makes EVERYTHING you and I do 100x more challenging. Just to stay seated in a chair, or standing in a line, or even sitting upright on the floor requires an incredible amount of energy because his muscles just don't want to work right. Actually, it's not so much that they don't want to, but there's a misfire and they can't do what the brain tells them to do. Even eating is challenging, causing incredible messes with every meal because he has to focus on staying seated in a chair, as well as trying to make the muscles of his mouth work properly to chew and swallow. So saying he has to fight just to survive is not an exaggeration. He could easily throw in the towel and say it's just too hard and he doesn't want to do it anymore and needs someone else to do it for him. But that would be quitting. And that's not my Kai.
So back to the IEP... I've been fighting, and over and over, I have gotten denied. He was finally approved last year for some adaptations (elevator use instead of stairs, non-slip seat cover to help keep him from sliding off when he lost his balance, etc), but still no IEP. The IEP would allow for modifications and adaptations to every area of his school day... like one on one testing so he can use the bathroom as much as needed and stand, sit or lie down depending on how his body needs to adjust to be able to focus, a scribe to write while he speaks bc holding a pencil is incredibly challenging (not to mention trying to keep balanced in a chair AND hold the pencil to write legibly), frequent breaks to allow him to rest his focus and collect himself, some physical and occupational therapy in the school setting, modified seating so that he can lean on an arm rest to balance, a personal laptop at his desk so he can type even just his short answer responses on worksheets so he doesn't have to try to write them... these are just a few of the things I was fighting for. When we finally got a diagnosis in January, I armed myself with a whole new team of doctors willing to fight for the IEP for Kai and began the fight yet again. And this time, after 3 months of testing and fighting, and much prayer from a LOT of people, we finally won! That was a HUGE victory for sure, because now that he is approved, by law, ANY school system that he is in from now thru his high school graduation is required to adhere to his individual plan, and we also made sure that his plan could be changed at ANY moment I requested since his disease is rapidly changing, so that is also a blessing.
So...finally the update you've been waiting for! California!!
Let me back up and say that if it weren't for some INCREDIBLE friends, the trip to California would have never been possible. A lot of you are probably wondering why in the world we would need to take a trip all the way across the country to see a specialist when we have Duke and UNC hospitals right here in our backyard. Well, they are incredible hospitals for sure, but they are also limited in their expertise, and since Kai has been diagnosed with a disease that only 20 other people in the entire United States have ever been diagnosed with, there's not a lot of specialists in the US, let alone in the world, who even know anything other than what you read on google.com about the disease. See Kai was diagnosed on January 2, 2013 with Ataxia with Oculomotor Apraxia Type 2 (AOA2). Problem #1 is that Duke had NEVER seen a patient with this diagnosis, and the information they were giving us was just google.com articles because they didn't know what else to do. Problem #2 was that since this disease is SOO incredibly rare, they didn't even know if he really had it or if he had something else and they were just settling for this diagnosis because it has no specific diagnostic test but just a series of tests and symptoms that all have to line up with the correct answers to point to this diagnosis, so by mid February, we were at only a 50/50 chance that this was the correct diagnosis and they were looking at going back to square 1 of testing all over again... what we spent the past 3.5 years doing, not to mention over $60,000 in out of pocket expenses! So I began my quest to be smarter than the doctors here. I began researching, and calling, and e-mailing EVERY doctor's name that I could find on every possibly research article on AOA2 that I could find. It was slow beginnings at first, but slowly I started getting responses... first from doctors in France, and then from a researcher on AOA2 in Minnesota, and then a parent who has 3 children with AOA2, and finally a doctor and specialist in AOA2 in California. See, there's only 3 researchers in the US that are currently educated on and continuing to do active research on this disease. Most doctors have never even heard of it, let alone seen a patient with it. And when I finally connected with this doctor in California at UCLA who is not only a researcher for AOA2, but also treats 3/4 of the patients in the US with this disease, I knew we had to go see him. Even he had his doubts that Kai really had AOA2. Up until Kai, the youngest patient in the US diagnosed with this incredibly rare degenerative neuromuscular disease was 17. Kai is only 8, and has been noticeably displaying symptoms for nearly 4 years now.
So Dr. Fogel offered to see Kai, if we could just make it out there to UCLA. Remember earlier I mentioned how much we'd already paid out for medical bills?! So yes, hiking out to California to see a doctor wasn't really in the budget, not to mention our other 3 kids that needed to stay home and be taken care of. So enter our angels... my mom offered to fly down and tag team to help Kevin with the other 3 kids, and despite coming down with a very violent flu while here (another story for another day!), she was able to help keep the house under control. Kevin filled in the gaps, and my friends Lisa, Eli, and Leslie jumped in and loaned a hand when my mom had to leave early! And my incredible angel friend Carla, who works for Jet Blue, offered to give Kai and I two of her precious buddy passes that she is given as a "job perk" each year. She's only given a very limited few per year, but she didn't even pause to think before offering two of them to us! Then, we had an incredible load of friends in California offer us places to stay! We ended up rotating houses each night, staying with a cousin and his wife and 2 kids that I hadn't seen in 13 years, staying with a precious friend and her parents and family that I hadn't seen in over 3 years, and even crashing one night in a bachelor pad of my youngest brother's friends from high school that I'd never met before showing up at his door :) Kai and I made memories together for sure!! I made sure to surround the doctor's appointment with fun... trips to the beach, Santa Monica Pier, lots of fun burger stops at In N Out and Jack in the Box, ice cream at Diddy Riese, sleepovers with his long lost buddy Cameron, and the icing on the cake was his trip to Legoland as his early birthday present!! Even that, God provided us with buy 1 get 1 coupons to be able to afford to go!
So surrounded by fun, we had the doctor's appointment. Dr. Fogel spent the better part of 3.5 hours with us. He examined Kai, asked a lot of questions, had already done TONS of research on Kai's situation from the medical records we had sent over, and he took a look at all Kai's MRI and CT scans that we had brought with us on digital copy. He was incredible. He explained everything he did, everything he saw, everything he had noted on Kai's previous tests. He crossed every t and dotted every i. Then, he delivered his news. We were history in the making. He is 99.9% certain that Kai DOES indeed have AOA2. Not only is his 1 of only 20 documented cases in the US, but Kai is THE youngest person EVER documented in the US with this disease. He continued on to spend well over another hour answering my questions and helping us to understand what this means. Since he has 15 of the 20 AOA2 patients, he knows what he's seen, and is the best person possible to answer our questions and help us monitor Kai's progression.
I feel like I need to pause and say that although the news hit me all over again, but somehow in a totally different way from the first time, there's a few things I'm thankful for. First, is that for now, Kai won't have to go thru any more testing. Everything from here out with be just to monitor progress, unless something else random and rare begins to present. After 4 years of non-stop testing, THAT is huge. Second, the doctor looked at me straight in the eyes and told me that if I had not persisted in taking Kai to therapies (PT, OT and Speech) consistently for the past 3.5 years now, and also done therapy on him from home, he would absolutely without a shadow of a doubt be using a walker to walk, if not fully in a wheelchair by now. I wish I could explain to you the relief and feeling of "at least I did SOMETHING right" that crashed over me in that moment as he was talking. As I fought back tears, I quietly thanked God that all those MANY weeks that I just wanted to throw in the towel on spending 3 hours a week in therapie , for $300 per week out of pocket expenses (that's well over 200 hours of therapies and thousands of $s of expenses!) just to take him there... they all were worth it. As a mom, the whole trip was worth it to hear that I had done SOMETHING right to help my little man fight harder and longer.
So our history maker journey continues. Currently, there is no cure. AOA2 is a very degenerative condition, where Kai's brain will continue to function at an extremely intelligent level (much like ALS), but his body will continue to deteriorate and weaken in it's response to his neuromuscular signals until eventually he will be confined to a wheelchair needing care around the clock. But I'm refusing to stop at that. Because it's so rare, there's VERY little known about the disease, and very little research being done. So I will make it my new mission to inform and make people aware, and begin to raise money not only to help us support Kai's ongoing and ever increasing medical expenses (therapy will forever be a weekly thing, eventually being multiple times per week!), and also looking to raise money for research to be done on AOA2 to hopefully and prayerfully find a cure one day. So please feel free to share our story and pass it along! It is my prayer that somehow, thru the incredible pain of this journey, that we would continue to be able to see God's fingerprints in not only our story, but in how God uses Kai's determined spirit of a fighter to encourage and strengthen others.
So how can you pray... please cover Kai in your prayers for his struggles with this diagnosis. He knows and is understanding more and more of what it means every day. He is brilliant. I don't say that because he's my kid. He really is (trust me, he's had all the tests done! lol). So he knows that his brain is telling his body to do something but his body isn't responding the way he's telling it to. It's causing incredible struggles with depression. In fairness to him, I'm going to leave it at that, but please pray for him, and pray that we would have wisdom in walking beside him on this incredibly tough road. I don't have answers for him. In fact, I'm struggling with the same questions of "why" that he is. This is a lifelong diagnosis, so the questions are big and probably will never be answered this side of Heaven. But we both have to move from the grief and anger stage, to acceptance Whatever that may look like. And that's a lot easier said than done.
