Tuesday, November 13, 2012

Almost Diagnosed!

We had an appointment with Dr. K (KayTar's mito doc) last Tuesday and got some kind of big news. KayTar is now officially the closest she has ever been to being diagnosed! Dr. K said that her muscle biopsy from four years ago is 100% definitive for a metabolic myopathy and since we've ruled out basically all other types of metabolic myopathies and the report from her recent visit to the metabolics/genetics says that they, too, think that it is mitochondrial disease...that is likely what we are dealing with. She wrote orders for her protocol letter and a prescription to get her started on CoQ10 to help with energy and ability to fight through infections a little more successfully. She said that she definitely looks and functions like a mito kid, we just need to get confirmatory testing back before she puts the official, always and forever, label on her. So, it is still a bit of a waiting game, but now we are waiting with some supports in place at least! If the Transgenomic testing comes back with a known disease-causing mutation, then that'll will be that. If not, we'll move on to exome sequencing. If we don't get an answer there, we may redo her muscle biopsy...but that is quite a way down the road. For now, I'm just happy that she is being treated as though she has it and that her team is in agreement that it is the right direction to go.

We actually received her protocol letter last Thursday (they are QUICK over there!)...and wow. It certainly drives home the seriousness of the condition. In case you don't know, a protocol letter is a letter we take with us in emergent situations so time is not lost when she is in need of medical supports, such as IV fluids. It is a fast pass through the ER waiting room and into a treatment room, and I can see why! It says things like, "any person with a mitochondrial disorder can go from walking and talking to intubated and in the ICU in a very brief time period" and "There is no specific treatment for mitochondrial disease and the disease is often, but not always, fatal." and "Any change in KayTar's condition should be taken seriously as she can quickly become fatally ill." Nothing quite like seeing your worst fear typed up in official black and white on a medical document as a likely outcome! Frightening realities aside, we are thankful to have the letter in hand. In fact, last Saturday when she crashed at camp, we should have taken her to the hospital...but at that point, I didn't know which hospital to take her to or what to even tell them. At least now, we know where to go and what to tell people so that she will get the care she needs as quickly as possible. It was a rough recovery and she missed a week of school, but she went back yesterday and is doing pretty well considering!

Mostly for my own future reference, I want to discuss what exactly happened at camp and why we were so concerned. KayTar was sick and struggling, she kept spiking a fever, she wasn't tolerating her normal feeds (puked ALL over herself and the camp clinic at one point)...but she pressed on and pushed herself to have fun at camp. We usually discourage this because we know how it will end...but it was camp and she never gets these opportunities, so we let it slide. She had fun all day and then at dinner, she passed out mid-sentence. We call it "emergency shutdown mode", but she basically powers down and aside from those automatic brain functions (breathing, pulse, ect.), she is out. We moved her from the cafeteria to her cabin, from her wheelchair to her bed, changed her clothes, discovered she had lost control of her bladder (bad sign), and put her to bed...without so much as a stir from her. Then when we decided it was time to go, we packed her up, picked her up, rode to the clinic in a golf cart, put her on a sofa in the clinic, moved her to the car...all without any response. We drove home for 2 hours...no response. My anxiety was building this entire time and I just knew we would need to drop the boys at home and go straight to the hospital...but a minute away from our house, 5 hours after she powered down, she opened her eyes and said, "Are we going home?" WHEW! We were still worried, but not unconscious-child worried, which is a different class of worry altogether. Like I said, it was a rough recovery...she had bladder/bowel control issues for a few days, was on nearly continuous feeds, requiring 24 hour oxygen, and was really, really run down...but now we are *almost* back to normal! And for the record, she asserts that camp was 100% worth it all...and I happen to agree with her!


Monday, November 05, 2012

Mito Camp!

Oh, where to start?! Mito Camp was amazing, but it was also not completely without difficulties. I'll start with the tough stuff and then get on to the good stuff!

Tough Stuff:
KayTar woke up with a fever Friday morning...and camp started Friday evening! I was completely heartbroken. I thought for sure we would have to stay home, but the director encouraged us to still come as long as KayTar wore a mask to prevent sharing, in case the fever was infection related and not simply autonomic drama. It was an incredibly difficult decision, because when KayTar gets sick, it hits her hard and we keep her VERY chill to prevent it from rapidly progressing to a bad place. But Mito Camp promised to be so amazing and KayTar had been counting down the days and she told me "It would be like canceling CHRISTMAS!" Sooo, we decided to go. I'm going to assert that it may not have been a SMART decision, but it was a wise one. Life is short and this was such an amazing opportunity, we decided to make the most of the day we were given, even though it was an imperfect one. I'm sooo glad we made that choice. Medically, KayTar struggled all weekend and keeping her running was like patching a boat that kept springing leaks (wonky glucose, puking in the clinic, fevers, not tolerating feeds, UGH!), BUT she was having a amazing time in spite of it. Every time I saw her she was happy and participating! She passed out at dinner on Saturday night and we ended up having to leave early because she was so unstable...but she only missed out on 2 small things and got to enjoy every other experience to the fullest. She did everything that was on her list of must-dos! She was in rough shape yesterday and still struggling some today, but she has been happy and sharing camps stories with me and says she would do it all again in a second!

Good Stuff:
We got there a little late on Friday, but got checked in and made it over to the fire pit for s'mores and dancing...and FIREWORKS! It was awesome and KayTar was totally into it. BubTar IMMEDIATELY felt at home (which is not often the case for him) and made buddies with his cabin mates. KayTar's counselor was wonderful! Saturday was a full day and when I think about it, it seems like more than one day because of all the fun we squeezed in. We were all split into our cabin groups and went to a variety of scheduled activities. My day was: breakfast, horseback riding, barnyard, cooking, lunch, canoeing, rock wall climbing/ziplining, giant swing, then dinner...and then we had to go. My horse was such a character. He was very hungry and kept stopped to sneak a bite of food from the buffet of nature. I had to have the workers help me with him the first couple of times, but after I had been riding him for a while, I could tell when his mind wandered to snacking and could keep him on track. His little personality was endearing. Also, when we passed another group of trail-riders, he decided to try to follow them instead! Again, workers had to help me get him back on track. Silly, Hawk! It was so peaceful and fun, though! The kids got to do rock wall climbing/ziplining (K just watched...too high for her!), archery/nature, horseback riding, barnyard, canoeing, arts and crafts, and parachute play! KayTar also scheduled a "treehouse party" during rest time for her and her bunk mates.  Evidently, it was super fun! Josh got to do most of the same things and he caught 6 fish, too! Fun for ALL!

Of course all of the activities were SUPER fun...when I was flying down the zipline, one of the workers shouted "You have the grin of a kid in a candy store!!". But the more amazing part was the atmosphere at camp. There were a kids with a variety of abilities, a variety of medical interventions, a variety of symptoms...but it was the ONE place I have ever been that none of it was out of the ordinary. Nobody batted an eye at tube feeds or oxygen lines or wheelchairs or masks...nobody looked at me questioningly when my kid hopped out of her wheelchair to bust a move...we were all just NORMAL! I did take care of a lot of KayTar's care because she was struggling and nothing was going to plan and I kept having to readjust,  but it was okay and if she is healthy next year I will have NO worries about handing her over! If we muddled through this, "normal" KayTar weirdness will be no big deal at all. Both kids made friends and Josh and I got to spend time with our friends and it was just wonderful all the way around. Everyone is already counting down the days until next year!

I didn't get a lot of photos because we were all on different tracks, but we should be getting photos from the kids' counselors soon and I will be sure to post them! Can't wait to see more of my kiddos having a blast!




We climbed up and ziplined off this thing. See lawn chair for size reference!









Watching the down pour at lunch


Mustache Camp


Right before she crashed...still happy!!


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Thursday, November 01, 2012

Princess Sock Monkey!

My friend Adrina makes the most beautiful custom tutus/shirts for kiddos' birthdays and special events and when Halloween rolled around, I asked her if she thought she could make a sock monkey costume for my little monkey! It turned out even better than I had imagined! KayTar was in HEAVEN. If you (or a friend) are looking for something special like this, be sure to check out Posh Birthday Boutique! (and no, I'm not being compensated for posting about her...I'm just a VERY happy mama with a VERY happy kiddo!)









And one of BubTar for good measure. 10 year olds are sooo not into the posing for pictures thing!