Celebrating Inchstones: Half way there

Thursday, October 20, 2011

Half way there

We are half way thru the yearly specialist follow up. Last Monday was developmental medicine. This past Monday was cardiology. Yesterday was GI. To be fair, we see GI every 4 months so this was more of a regular appointment than a yearly check up.

To recap, the dev ped said Asa has probable autism secondary to the mito. I need to call and set up appts to figure out the next step. I got his clinical notes on the way to our GI appt.....not the best way to start the day! The cardio appt was great and we don't have to go back for 2 years! So on to GI yesterday.....

Asa has lost weight again and he weights 28lbs. This puts him right at the bottom line of the growth chart. He is 35". He'd make a perfect 2 year old! Asa's appetite has been on a decline and I started replacing all fluids with formula. This still wasn't enough. And it would be easy to just fill him to the gills with formula but even without a ton he is gaggy and drooly and pukey. Life is no fun...for him or us....in that state. We've always just upped the meds and never really checked out why this is happening. Soooo, next Friday we will be at Vandy at 8am for a Gastric Empty Scan. Asa will drink some formula laced with contrast. He'll then have xrays taken at certain intervals to see how the contrast leaves his tummy. We suspect it'll be slow. If it's too slow it'd explain why he is still so gaggy. Then we can try different meds or different feeds. If it's normal he'll probably have a scope later.

On Tuesday we head back to Vandy for the neuro/genetic appt. Then Friday we'll go back for the scan. After this we'll be done with the appts....except news ones based on the autism stuff. Anyone else tired?

2 comments:

Anonymous said...: Kim, Becca has quite a lot of information on autisim intervention and non-typical autisim symptoms and behaviors as Carl has more non-typical behaviors. Thanks for the update and prayers for you and Asa.
Becky Jane; October 20, 2011 at 10:38 AM
Clara-Leigh said...: What a whirlwind!!! I am right there with ya on the autism stuff. Not a word you want to see in print alongside your child's name, but most of us already know it......I will be praying for the feeding issues to resolve with some additional help so Asa can grow, grow grow!! I know what you mean about the growth chart too!! Garrett is now 6 years old and weighs 40 pounds and is 44 inches tall, so he is finally sprouting up but looks like a string-bean!!! I will keep you and yours in my prayers!!!!
CL; October 21, 2011 at 10:14 AM

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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!