Friday, September 28, 2012

Knot head!

After all of Asa's great walking yesterday, today didn't go so well for him!

I got a call from the school as we were having lunch here. Asa had fallen and could I come. Now, he has fallen several times but none that required me to pick him up so I was slightly concerned. Only slightly though because my aunt was the one who called and I knew if there was a huge concern they'd get him to a doctor. It takes a good 30 minutes for me to get to his school.

So I rushed to the school and found him sitting in the nurses lap playing with books on her desk! He was laughing and smiling and happy. The bump was huge and colorful and it really did make me weak in the knees to see it! Then he would poke it and I'd want to pass out! He was completely unfazed though!

Apparently, they were walking down the hall and he just stumbled and fell. He doesn't try to protect himself at all. His poor teacher said it was like it was in slow motion and she just couldn't grab him. I've been there and done that! She said she almost got sick just knowing it was going to be bad. And get this, Asa never really cried! He didn't freak out and get sick! He didn't like the ice pack but he never acted like it hurt or scared him!

I went ahead and took him to the doctor just to be sure he was ok. I thought he'd probably wait until 9pm on a Friday night to make me worry and wish I'd taken him in. I've been there and done that too! Anyway he was just fine. He is still just fine! We were talking about it at supper tonight. I'd ask questions and he'd point to his boo boo. He'd show me how he has to put his hands out by slapping the table. He pointed to his shoes when I asked if he tripped on his shoes. He's a smart cookie, that one!

We also talked about how he needs to hold his teacher's hand. The boys and girls walk with their hands behind their backs and Asa follows along. No one has ever made him do this, he just realized the other kids were so he started putting his hands behind his back. Again, pretty smart cookie.....a smart cookie with a huge knot on his head! :)

It's all just another one of those milestones and boo boos that kids get and we are blessed that Asa is walking enough to get one too. But one is enough, please!!!

Thursday, September 27, 2012

Hooray for accessibility!

Our town has a really great accessible playground. I remember when Asa got the wheelchair and I took him to the playground for the first time. I could push him up and down the ramps and over the bridges. He loved it. Thursday night, we stopped back by there on the way to Gracie's soccer practice. It wasn't very crowded but I didn't take video so we stopped on the way out and it was pretty packed! Even though it was Asa's bedtime and he was worn out and the place was packed, we got some decent video of his walking all over the place by himself! It's hard to imagine that he just took his first steps nearly 3 months ago after working 4 1/2 years in PT! And all the glory goes to God! We have not accomplished anything in our own power!





Monday, September 24, 2012

PALS picnic

On Saturday, a local church held a picnic for special needs families. They were promoting the churches special needs ministry called PALS. They also had several organizations that serve the special needs folks in our area. While we aren't in the market for a new church family, I love to meet other special families around here. We also got to see a few therapist we haven't seen in a while and some old friends that we've missed.

They had an inflatable slide and bouncy house. I was not going into the bouncy house but I did ride down the slide with Asa several times. I really wish we had a picture of the back of this thing! If you had seen me holding Asa and climbing to the top of it, you'd realize why I had to stop after 4 or 5 rides down! Asa loved it though! He'd squeal at the top because I couldn't get us seated fast enough and then he'd squeal at the bottom because it was over!

There was also an arts and craft table. Asa made a pumpkin, with a little help!

 He loves to clap for himself!

 And signing his artwork! Love how he sticks out his tongue when he concentrates!

We took several breaks but it was a beautiful day and the weather was perfect!

I think Asa's favorite activity was the music therapy time! The leader was playing a guitar and singing. The kids, small and older, picked instruments and joined in. Once Asa got promoted to the drum but he really only wanted to put the floor dots on the top which completely muffled the sound!

He was good with the clapper things, I'm sure they have a better name too. He was really good with the maracas!

Anna was our photographer and she did a great job capturing the fun....even if all she had to work with was my iPhone!

Saturday, September 22, 2012

Mito Awareness-Day 7

Mito is often called an "invisible" disease. It shares this label with many disorders like, Chronic Disease Syndrome, fibromyalgia, depression and more. To the outside eye, people with these disorders may look as healthy as you or I. When you look more carefully, however, you see all the effort it takes to look so "healthy".

 Mito is sometimes called "invisible" for the same reason. With careful attention to diet, stress, hydration, and various other interventions, mito kids often look very healthy for long stretches of time. Often it only takes a small cold or virus to bring the house of cards tumbling down. And it's often a hard crash. A crash with lasting results. Sometimes it takes much longer to REbuild the cards than it took to build the house the first time.

 I think that's the scary part. Watching and celebrating all the accomplishments with the fear that it'll come crashing down by a simple fever or virus. I try so hard to appreciate each new skill Asa learns without the fear of tomorrow. He's experiencing a huge developmental boom right now and I want to savor each moment. It's a good perspective to have overall though. None of us are promised tomorrow, after all.

 Another aspect of the "invisible" mito is the siblings who watch their brother or sister battle mito. I think they often feel "invisible". Some kids are better at getting those feelings out than others. I know at our house the siblings think Asa is spoiled. I assure you, he is no more spoiled than they were but he does require extra attention and time that does interrupt their lives. It's a tough balance.

 And I'm sure some siblings have to grieve the healthy sibling they thought they were getting. As parents, we spend time comparing our babies progress and the pain when those delays add up is awful. We learn to love the gift we've been given but there's still a longing for the child who fits the standard mold. Siblings must feel a similar longing. Instead of watching their brother play soccer or T-ball, they sit on the sidelines of therapy and doctors appointments. I'm also certain that having a brother with special needs can affect friendships. No loud sleep overs or late night movies. No picking up and running out the door at a moments notice. And how do you react if you have a brother or sister with delays and your friends use the "retard", as kids often do without thought or in ignorance?!

 And lately, I've been wondering about the future. The far, far distant future I hope, but what would happen if Asa outlives Barry and I. Would his siblings work together to provide and care for him? Will one or more consider him a burden or just live too far away to help out? Will anyone give up a dream so they won't be too far away to help out? Oh the worries! I know God is in control and Asa will be fine but I'm convinced Satan uses those worries to distract us from focusing on God's providence and blessings!

 And that is where I end my Mito Awareness Week! In the care and love of the Great Pysician! My God is an awesome and powerful God. He is capable of healing and He is more capable of comfort and shelter when there isn't healing. After all, He knows better than anyone what it's like to watch a Son suffer and die. He gave His only Son to die as a replacement for us. It doesn't get more comforting than that! And with this assurance I know that cure or no cure, our family will be alright, no, even more, BLESSED to be covered and protected under the Mighty, Everlasting, Loving grace of God, the creator and designer of all things, even Asa's mito! He knows what the doctors or science can ever figure out. That gives me peace to battle on as long as I'm blessed to hold Asa in my arms! After all, none of us are guaranteed tomorrow!

Friday, September 21, 2012

Mito Awareness-Day 6

Asa's cute and all but why should YOU care about mito?!

Did you know that every 15 minutes a child is born who will develop mitochondrial disease by age 10?

Did you know that more children die from mitochondrial disease than childhood cancer?

No, well, how about these diseases?

Do you know anyone with autism, Alzheimer's, Parkinson's, diabetes or cancer?

All these diseases have elements of mitochondrial dysfunction to them. When the cells in these body systems start dying we get these and many other diseases. But what if there was a way to boost the mitochondria in the pancreas? Would we find a better, long term treatment for diabetes? Maybe a cure?

We need much more research for all these diseases and the underlying, common thread is the mitochondria so why not start there.

Now do you see how mitochondrial disease affects us all!

Tomorrow, the invisible mito.....

Thursday, September 20, 2012

Mito Awareness-Day 5


There are none....

At all....

The only thing we can do is manage symptoms. We can avoid stresses on Asa's body that require too much energy, like overheating or viruses or fevers. We use the feeding tube to keep him hydrated when he is sick. We make sure he gets sleep.

Other kids may need oxygen, BiPAP, TPN, trachs or other higher level interventions.

Asa gets occupational, speech and physical therapy at school to help him. He has been doing aquatherapy for almost a year now. It's been amazing too. Asa mostly refuses to do scheduled work but even "play" in the water is extra resistance he doesn't have on land. Asa has really been blessed with great therapist! From the time he was a month old until now.

There are other unconventional therapies like HBOT that likely help but are considered off label and are not covered by insurance. There is no denying that many kids have had great improvement though!

We've also tried other things that might help, like supplements and vitamins. Asa was on Coenzyme Q10, levocarnitine, creatine, folic acid and riboflavin in super high doses for many years. We'd add a few more in and take a few out. We really couldn't tell a difference at all after a while. At first there was a huge change in his energy level but once that wore off it was back to his baseline. Finally we just stopped all of the vitamins. Lots of kids have great success with the supplements though. And we may start them up again in the future.

There is a bright light on the treatment front. It is still many, many years away though. A new drug is being tested and has had great results in most kids. It's EPI-743 if you need details for your googling! I pray that this is a future treatment and that it is available quickly! It is not a cure though! We still need a cure!

Tomorrow, we'll cover why YOU should care about research and a cure for mito!!

Wednesday, September 19, 2012

Mito Awarness-Day 4

All about the gut!

Let's start off easy. Asa has food allergies. He's allergic to dairy, soy, and nuts. I've toyed with this because he doesn't have a huge reaction, well, not an anaphyaxis reaction. He just gets a belly ache and is miserable and it's not fun but it's not deadly. I stopped toying with this, however, when I hoped that he could get off his reflux meds if he stopped his aggravating foods. His tummy just felt so much better that we've mostly left him off them. This is easy enough to do because Asa gets 99% of his calories from formula. He takes 4 8oz cups of Elecare Jr. Vanilla per day. He will try more foods than ever but he just can't eat enough to keep gaining weight without the formula. Every so often I get on a big kick about switching him to food but it back fires with lots of puking and weight loss.

We are just thankful that he started drinking the formula from a straw cup and trying new textures. This keeps us from using his feeding tube. When Asa was 4 months old he was so malnourished that they put a tube into his nose and down to his belly. Using this tube proved that he could gain weight he just had to eat and not refuse EVERYTHING! The tube was removed 2 months later but Asa still would refuse to eat and at 9 months old was only taking in 8-9 oz of formula per day! This time they put a tube straight into his belly called a G-tube. It was such a blessing! No more fighting to get life saving nutrition in him. Today, we don't use the tube much. Occasionally for meds, when he's sick we use it for hydrating him but I can't remember the last time we fed him with the tube! It was a long journey and we won't likely take the tube out but if you need more details about our tube journey, just ask.

Now let's get ugly! Asa has a horrible time with poop! If it isn't too loose, it's too hard. We've tried tons of meds and interventions but usually he deals and takes care of the issue pretty well on his own. The neds all made things worse in a different way. We do use enemas when the going gets tough.

Asa also pukes and gags a lot. He is maxed out on reflux meds. We've chased down nearly every test to tell us what's going on. We've let out some pretty invasive stuff because the only option is surgery and we aren't doing that right now. I think we've all gotten pretty used to the puking now. And it isn't a daily issue like it was in the past. I think he just has a sensitive stomach and there isn't much we can do about that!

Hopefully that gave you enough detail but not too much GI info!

Tomorrow, we'll talk about treatments....or lack thereof!

Tuesday, September 18, 2012

Mito Awareness-Day 3

Another big energy user is the brain. You brain needs a lot of energy to function. Lots of mito kids have seizures because their brain isn't getting enough energy. This is not the case for Asa. We are constatly told that he is at greater risk for seizures and he's had a few EEG studies but he doesn't have seizures right now, and may never.

He does however have other signs that his brain is affected. He has many "autistic features". He startles easily and has an overreaction to loud or sudden noises. He doesn't like certain textures, like soft or cuddlely. He seeks out rough or hard surfaces, like sandpaper or concrete. He has a hard time playing with someone and mostly plays alone or he interacts with others to get what he needs. He likes to watch things spin or open and close. Instead of playing with toy cars, he likes to just spin the wheels. He does however like to be held and hug and interact with us. A lot of kids with autism can't do that so we are grateful for every smile, laugh and hug we get.

Asa also doesn't talk. At all. He vocalizes and grunts. He squeals, laughs and screams. There is sound but it isn't our language. He does tend to use the same sounds over and over but they mean something different each time he uses it. The doctors told us last week that the lack of speech was because his brain was affected. He does understand a ton of what we say so when he gets a way to communitcate I'm scared of what he might tell!

Asa also just has general cognitive delay. He can't identify colors or letters or numbers, even by pointing that wouldn't involve speech. He does know who each family memeber is so he can retain info so i'm hopeful he can learn these other skills just at a slower pace.

Asa is also being treated for anxiety. This helped with many of his sensory issues. I hate him being on medication but there's no doubt it has contributed to many of his big changes! Before the meds, he couldn't go to new places or meet new people. He was so afraid of everything around him that he wouldn't even try to use a walker, much less walk on his own.

Asa's brain also has a hard time regulating some of the "natural" things that our bodies do all day. He is heat intolerant. He gets too hot very fast and then doesn't cool down as fast as we do. This really takes a toll on his body when it happens.

Make no mistake though, you may see "delay" or "struggle" or "can't do" a lot in these post but Asa is a blessing and a joy! Watching him discover something for the first time is amazing. And we get to see him do this daily in one way or another!

Tomorrow, we'll tackle GI issues!

Monday, September 17, 2012

Mito Awareness-Day 2

I thought I'd just move my "awareness" info over to the blog and then link to FaceBook. I just need more room to talk than FB will allow!

Mitochondria are responsible for making the energy our bodies need to develop and function. Asa's mitochondria don't make enough energy so some of his systems don't work too well. Keep in mind that mito affects everyone differently. No two cases are exactly the same. I'm just sharing our experiences with Asa and his mito.

You'd probably notice that his muscles don't work well before you noticed anything else. His floppiness was our first clue something was wrong. Right after he was born, he spent 5 days in the NICU learning to suck and it was noted that he was hypotonic or floppy. His muscles are like rubber bands that are stretched out and loose. He has muscles but it take much for effort to flex and release them like he needs to in order to function "normally".

These floppy muscles don't just affect the big things like walking but also his biting and chewing, talking, smiling, holding a crayon, tying a shoe, using sign language, and so many other things. He didn't get head control until after he was 1, didn't sit without support until he was 15 months old, and couldn't get himself into sitting until much, much later. He is almost 5 now and can't crawl but learned how to walk 2 months ago at 4 years and 9 months!!! Even now his walk isn't "normal" but he has to tighten up his muscles so his brain can tell them how to move. This creates a kind of Frankenstein walk that too adorable! And when he sits without support he still tends to stack to support himself. The closest thing I think to describe this is like us sitting on a bleacher for an entire baseball game or a stool with no support for a long period of time. It tires him out!

Because our GI system is all about muscle control, Asa also suffers from GERD, dysmotility, constipation and diarrhea. Another important organ is essentially and muscle too and that is the heart. Asa heart is great but we get it checked out every year or two because he is at a higher risk for heart issues.

Tomorrow, we'll tackle how mito affects his brain.

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!

Monday, September 10, 2012

Some Nuggets

There are little nuggets of this life that I don't want to ever forget so I'm gonna put them out there on the big ole Internet so they'll live forever!

~ A few weeks ago we went to the zoo. Leading up to the trip we talked a lot about what we'd do and see. Asa always tapped the elephant on the iPad book we read so we learned the sign for elephant and made sure to spend time at their habitat. We used the sign a lot but how often in real life do you say "elephant" so it fell by the wayside. Now if I ask Asa something and he can't remember the sign, he throws out "elephant"! "Do you want a cookie?" "Elephant"!!! :)

~ When I lay down with Asa at bedtime, he likes to toss and turn and play. When I say "close your eyes" or "it's bedtime" he lays on his side, puts his hands under his face and makes a snoring, growling noise.....and then laughs! Wonder who he hears snoring?!

~ I asked Asa to try meatloaf at my mom's yesterday. He is eating very little these days and he shook his head "no". I told him if he tried one bite I'd take him on a 4 wheeler ride. He immediately took a bite and signed "more" then pointed outside! I should've bargained with a whole plate of food!

~ When Asa was a baby (nearly5 years ago) we bought an air purifier for his room. We didn't get it to purify the air, although that wouldn't be a bad idea, but because it makes a great white noise without having all the air of a fan moving around. A month ago Barry opened the cover and the filter was still wrapped in plastic!! Now it purifies and make a white noise that puts me to sleep when I lay down with Asa.....see above snoring comment!

~ Asa loves school! If I get him dressed but sit him down to finish packing his lunch or bag, he walkes to the door and shakes the handle while fussing at me! When he ready, he is READY!

~ I talk about colors a lot with Asa. I can never tell if he fully remembers them though. Sometimes he identities them correctly when quizzed, sometimes not. Tonight, without any prompting, he pointed to his blue changing pad, my blue shirt and his blue shirt! He may not know blue but he knew they matched!

~ Asa has a friend at school who pushes his chair out for him and pats the seat or table at breakfast time. How sweet is that?! His name is Andrew and he sports a faux hawk and I could just eat him up! But it'd probably embarrass Asa! :)

~ Asa has 6 other boys in his class. His teacher was helping one of the other boys in the bathroom and left Asa standing in line with his friends. When she turned around, Asa was not in line. She looked in the hallway and he was standing at the door to his room from last year. So smart that boy! And not good at follow directions!