Celebrating Inchstones: January 2013

Monday, January 21, 2013

Update!

I can't believe it's been soooo long without an update! We had a great Thanksgiving and Christmas! We had a wonderful long break after Christmas and even Barry was off work for the week!

Now we are back into the school routine....mostly! Asa has had a few days of low energy and droopy days. I keep thinking he's getting sick but after a day of rest he feels perky again!

Asa has learned a few new tricks since I last updated. He has learned to get out of his booster seat at the kitchen table. Since he's walking now, we can't just put him somewhere and walk away. He gets up and follows. This is great unless you like to shower, potty or just be alone! The kitchen table is the only place we could still put him and get a few minutes of alone time! No more! Boy are we in trouble! One night he wouldn't eat supper. He scooted his plate away, got out of his chair and walked to the front door! Thankfully, the door was deadbolted becausehe was sure turning the handle!

He also recently learned to shake his head "no" and nod "yes". I really didn't realize that Asa had missed the skill of learning to say "yes" and " no" butbtheynpointed it out in May that it'd be a good skill to learn over the summer. Well, he has it down now but we still thought he was just mimicking us and not really answering for himself. Until a few weeks ago! Cade had a science experiment that used a big tub of flour. After the experiment, they played in the flour. Asa would put his fingers in his mouth and I'd say "don't eat the flour" to which he'd nod his head and eat more! He also tried to bring the tub onto the carpet and I'd say "don't bring it on the carpet" to which he'd nod his head and try harder! Soooo, he knows how to answer with a nod or shake and also how to disobey! Great skills but boy are we in trouble!

And speaking of "no", Asa's learned his first word!!! He clearly says "no"!!! He doesn't just SAY "no" but he growls it!!!! "Asa, it's bedtime." "NOOOOOO", he growls! He also shakes his head like crazy when he says it! It's pretty darn cute!

So that catches you up on all the fun stuff going on around here! If this still doesn't make up for our loooong absence, check out these videos! WARNING: video 3 is long and I'm loud and obnoxious but Asa is playful and adorable! :)

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!