Celebrating Inchstones: Mito Awareness-Day 2

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.

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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!