Celebrating Inchstones: Spoke too soon....

Monday, June 28, 2010

Spoke too soon....

Asa is not all better. It seems this is an ever morphing think, each day it is different! The fever is still gone! That is important! With all the seizure talk freaking me out, the last thing I need is a fever causing seizures. This happens a lot with mito kids. I can deal with this grumpiness but I want the fever gone! He was actually happier today (I'm told) but when I got home from my day out his eyes were red and watery. He coughed a time or two and sneezed some. He just looked kinda droopy. He was smiling and even reached for Cade and let Cade carry him around a little while! So he isn't as ill tempered but still not up to par.

Last weekend there was a big mito symposium in Arizona. Last year it was in DC and Barry and I were gonna go but we got in to see Dr. K for the same week so we picked Dr. K. This year it was just too far away and it was right after we saw Dr. K so it would have been too much traveling. Next year it is in Chicago and I'm going!!! I'm saving my pennies now!!! All the experts are there and tons of parents. They organize it so you mingle and meet families from your area. While we couldn't go this year, a sweet mito mom from Memphis did get to go. Yesterday we had a lunch and she gave the other 3 of us the rundown on the meetings! We always have a great time when we get together and these meetings go longer and longer and longer!! We've learned though to start earlier in the day so it doesn't get too late on us!! I think next time we should start at sunrise!!

I won't bore you with all the details or conversations. And despite our best efforts, we didn't cure mito in our marathon lunch date. For me though, my spirits were lifted and my worries were eased for a while. I really don't know where I'd be today without the support of other mito families, both online and in real life! I asked Dr. K about a new supplement for Asa. She told me to try it and when I asked about the dosing she said "I have no idea, you'd get more info from other families than from me"! WOW! A doctor who admits they don't know it all and then recognized that we families have to stick together!! I know I've said it a million times on here but if it wasn't for other families sharing their lives I don't think we'd have a diagnosis and certainly not one so early in Asa's life! It can be tough to pour it all out in a blog or message board but I hope I can help another family!

So thank you to my real life mito moms and all those precious online friends!!!

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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!