Celebrating Inchstones: October 2013

Tuesday, October 8, 2013

Happy 6th Birthday

Today is Asa's 6th birthday!! Time has really flown by. This last year has brought a lot of fun! We've seen the most progress across the board this year.

Last October he'd just started walking. This year Asa has a cute little trot, he jumps and gets both feet off the floor when he's holding onto something, and he shakes his little booty when we ask him to. He understands everything we say to him. He also ignores us when he wants to. He still doesn't have any words but he's doing so much better at using the signs he knows, using his talker and using pointing to tell is his needs and wants.

As my last post showed, Asa is eating up a storm!! Sometimes this causes terrible tummy aches but OTC meds are working pretty good. We almost never use the feeding tube. He tends to fidget with it if he can get to it. He usually has it popped open. And he tugs at it like its nothing! I guess since he's had it since before he was 1 year old, it is kinda nothing to him! I kinda thought that removing the tube would make a great b-day gift! I chickened out though!

Like all of Asa's birthdays, this one is bittersweet. It's another year that's ticked by and the gulf between him and typical peers seems to widen in many ways even though he's made a ton of achievements this year. He couldn't stay in the pre-k class he was in last year just because of this birthday. Even though he's the size of the 4year olds, the skill levels are more equal and the school had everything just the size for little guys, he was turning 6 so he had to move on up. I'm still wrestling with the logic. We don't pass out drivers license just because you turn 16. We don't take drivers license away at 65 or move into retirement homes at 70. So being 6 years old, makes him a Kindergartener. Plus, now we have to pay for more activities with him. All those discounts for 5 and under are gone! ;)

Of course, we realize and appreciate the blessings another year brings our family that many don't get a chance to experience. Even more so this year for me. Several special mito warriors have died in this year that Asa's turned 6. My heart is heavy for those sweet families! I look at Asa and am daily reminded what a blessing another year truly is! It's difficult to have a pity party for very long. So bring on Year 6 and I'll let God lead and guide like He's done since we first held this precious gift 6 years ago.

Asa's story

Asa is the 4th and youngest in this family. We thought he'd come into this world and our lives would flow right along as it had the other 3 times we brought babies into this world.

We were wrong! After a normal pregnancy and delivery, Asa had to be sent to the NICU because he wasn't sucking, blood sugar dropping, floppy muscles, exaggerated startle reflex and jaundice.

He stayed 5 days were he learned to suck and eat enough to come home. He began nursing well but would scream in pain 30 minutes after each feeding. He had so much mucus and drooled so much. He had a terrible rash on his face. He wasn't making eye contact and was not hitting any milestones.

I kept taking him to the pediatrician but got nowhere until his 2 month checkup when he had only gained one pound since birth. That earned him an appt with a pediatric GI and a change to Neocate formula. Odd gasping spells and eye rolling got him into a pediatric neurologist before the GI appt. The neurologist (he was actually the head of the pediatric neurology dept) personally walked us over to the GI clinic and sat us in an exam room. That kinda makes you worry! That is when we really got the ball rolling. Asa was 3 months old.

At 4 months he was admitted to Vanderbilt Children's Hospital. He stayed 8 days and had a NG tube inserted so we could feed him directly into his stomach. He kept this for 2 months. Also during this time he had an EEG, CT scan, MRI, upper GI endoscopy with biopsy, flex sig, numerous blood tests, a genetics consult, and an ophthalmology consult and many other pokes and prods! So began our relationship with specialist!!

After 2 months on the NG tube, we removed it and tried to get Asa to eat enough to gain weight. He did OK for a little while but by 9 months old, he was fighting each feeding and not gaining weight despite being on Neocate formula at 30cal/oz. The decision was made to have a G-tube put in. The G-tube is a feeding tube that is inserted directly into Asa's belly. He can eat orally but won't so he gets feed into his belly.

Since he was going to have to be sedated for the surgery, it was agreed he should have a muscle biopsy at the same time. By 9 months he had finally began making eye contact. He smiled some but not very social. He was still very hypotonic (floppy) and didn't even have head control. Something was obviously going on with his muscles. All of his brain scans had been normal.

In Nov. 2008, when Asa was 13 months old, we found out the results of the muscle biopsy. Yes, it took 3+ months to get all of the results! He was diagnosed with Mitochondrial Myopathy. He is deficient in Complex IV for all of you medical junkies out there.

What this means is that his cells can't make enough energy to fuel his body....specifically for him, his muscles and GI system, that we know of. If his body has to burn energy to fight off infection, or a stress, then he looses energy in another system. Mito is a progressive disease with no treatment or cure. We try to keep him as healthy and happy as possible. We use the feeding tube to keep him feed so he doesn't have to struggle there. He takes numerous supplements and vitamins in the hope that they will keep him cells healthier. We check his eyes, hearing, heart, kidneys, liver, brain and lots of blood work yearly. Mito can affect any system so it is important to have baseline and watch for changes. He has a GI, neuro, geneticist, optometrist, ophthalmologist, cardiologist, developmental ped, regular ped and a mito specialist.

He gets OT, PT, speech/feeding and a home teacher weekly. He has some sensory issues with touch, sound, taste and texture. This plays into almost all areas of our lives! He is still very hypotonic but gained head control at just over a year (right after we started supplements!). He learned to sit when placed in a sitting position at 18 months. He still can't get into sitting alone. He learned to bottom scoot at just over 2. He does not crawl or walk.

He knows the signs for "moma", "daddy", "more" and "all done". He can show them when prompted but we are still waiting for him to initiate. He waves "bye-bye" and points all the time now. He loves to take a bath and water in general. He has a contagious laugh and can flash the most flirty grin ever!

We learned, with Asa, not take the small things for granted. Each smile, sound, word, bite or even trouble!! You just never know when they might not be so easy to come by or even if you'll have them at all!