Wednesday, September 12, 2012

Yearly Mito appointment

Man, it's nice to say "yearly" appointment! We didn't go to Houston to see Dr. K this spring so Asa has truly been a full year without seeing a mito doc. I even tried to get out of this appointment. I emailed Dr. Tyler a few weeks ago to tell him how great Asa is doing and did we need to come. He said yes and we got in pretty quickly. I like the new system, we saw a Nurse Practitioner first. She was great and took great notes. Then Dr. Tyler and 4 med students joined her. I think we were all kinda scared of what Asa's reaction would be to such a crowd. He did gret though! He showed off his walking skills, flirted with the students and got Dr. Tyler to pick him up and Asa laid his head on the docs shoulder. Pretty cute! He also squealed, screamed, hit, flopped, thrashed and acted up. They got the whole Asa picture!

We talked about Asa's activity threshold. He recommended no more than 30 mins of activity for Asa without giving him some down time. And extra fluids if he is hot or very active. This is important info for school. Its hard to judge when he's had too much until about 2 minutes too late! I have a theory that a lot of Asa's GI stuff at school happens when he's been stressed in other ways. Like when he's too hot and using energy to cool down, or if he's been too busy and his muscles or brain are trying to keep up, or when he's trying to be on his best behavior and then gets home and erupts. Dr. Tyler didn't think it was 100% accurate but I like it so I'm sticking to it! He thinks that Asa could be mildly sick with a regular virus and his body is just more reactive. I agree with that too but we are talking like 2 or 3 times a week he has diarrhea or pukes. That's just too many viruses. And if his body takes a harder hit it should also take a longer rebound. Asa's fine the next day, after a night's rest. Either way it doesn't really matter. It's part of his mito and all we can do is what we are doing.

We also talked about speech. Asa has been more vocal and has more variations to his sounds but it's not words. He will try or mimic "more", "Moma" and "anna". He doesn't use them on his own though. I had hoped that his lack of speech was muscle related but he's had lots of training in speech therapy and no words. Dr. Tyler confirmed that it's likely a brain issue, a language delay in his brain's ability to use language. It's encouraging that his receptive skills are so good though. I still think we just need to find the right avenue for him to express what he's storing up in his noggin, no matter if it's signs or a device. He thinks that Asa's delay keeps him from finding and using a different pathway.

He also referred Asa for an autism eval. I'm torn on this one, folks! He has many "autistic traits" but is it better to just leave it at that? Would he benefit from getting another label on his chart? I'm not even sure he'd qualify for an autism diagnosis. The referral will likely take a while so I guess I can think and pray on it. If there's any benefit for Asa then I'm all in but there's no need to pursue it just so we can check another a box on the questionnaire.

We took lots of blood too. The tech stuck his right arm and dug and dug. He was grumpy and growly at her but not like I would be! He watched the whole thing. She finally gave up and unhooked him and Asa took a deep sigh and slapped his left down on the table like he was so over the whole business. We all cracked up. She got his left arm with very little trouble and Asa screamed like crazy! Crazy boy!

One of the labs was for a test being run by Transgenomic. It looks at the nuclear DNA that Asa got from both Barry and I. We had already tested the genes he got from me. A mutation was found but Dr Tyler thinks its a benign mutation. I have been tested for the same mutation and I have but am not sic *cough, cough*. Barry thinks that he is a perfect human specimen and the test won't show us anything new! In all likelihood, it'll find a billion useless mutation and still no causative one. That's fine too. "The science just has to catch up to these kids", is what they tell us mito folks. Come on science!

Other than a call when the Transgenomic test comes back, 6-8 weeks (?), we are done until next year! We still see GI every 3-4 months but that's much better than the rotation we were on just this time last year!

Oh, and as we pulled into the driveway, only 10hours after we left, Asa started puking! He was pale and his eyes were droopy. He had a 102 degree temp. He looks sick. I'm not so sure though. This is the third time he's done this in the 4 weeks since school started. He'll look so sick but then bounce back in the morning. Either it's an 8 hour bug or my original theory.

Oh and there was a particular ugly day when Asa lost muscle control and couldn't sit or stand, his temp was low instead of high, he couldn't control his eyes and they just rolled around and he couldn't keep anything down. I just knew he was super sick. He woke up the next morning ready to go. Now we are told that since Asa's at greater risk for seizures to let them know if this happens again! I'm praying it doesn't!

Anyway, I'm hoping he wakes up perky tomorrow and it's not a bug or seizure, just an Asa thing!

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