Celebrating Inchstones: What a week!

Friday, October 14, 2011

What a week!

After celebrating Asa's birthday on Sunday we hit the ground running on Monday!

Asa had an appointment with a developmental ped. This doc was new to us because Asa was seen in the neonatal follow up clinic and graduated out of it last year when he turned 3. This doctor is from Vandy but comes to Jackson monthly which is such a blessing! If anyone local gets a chance to support Ayer's Clinic I encourage you to do it. Its amazing to not have to drive all the way to Vandy for appointments.

Anyway, I had lots of questions about some of Asa's behaviors for this Dr. "Autistic like features" is a symptom of some mitochondrial disorders. Asa definately has several autistic like features. He fixates on certain things (water) and avoids others (soft Teddy bears). He is affectionate to us and will finally tolerate kids but doesn't seek them out or even play with them. All of his sensory issues could be considered autistic like....or they can stand on their own. He doesn't handle transitions well, even happy transitions like coming home from school. Soooo, my questions for Dr. Couch were mostly about seeking autistic therapies vs Asa just being spoiled rotten. Dr. Couch and I talked for a long time with him watching Asa play and interact. He did a little exam and got Asa to walk and play with him. Asa is a rock star when you do what HE wants but if you challenge him he looses it! So what does Dr. Couch do but go and force Asa to do some hard gross motor work, like standing while just leaning against the drs leg or walking while facing the doctor vs the Dr behind him. So Asa lost it and the Dr got to see a full on episode, fit or plain ole rottenness! Then he gave Asa back to me while we finished! Thanks doc!

His final thoughts were that regardless of whether we call it autism or an autistic like feature of the mitochondrial disorder, it is a problem and some therapies may help. He gave me a few names in Nashville to call and I've got the number of a place in Memphis. I feel a little overwhelmed about starting all of this. I feel autism is such a buzz word right now and I don't want to waste time or money on stuff that won't work. I've got very little patience too! I've spent so long wondering if I'm overreacting to this bad behavior or was I just afraid someone would say the word "autism" that I really didn't know how to feel after the appt. At Walmart after the appt the cashier was talking to Asa and asked if he was autistic. Now I realize the cashier isn't a doc but I felt relief and a sting when she said that. Turns out she has autism in her family.

I've basically not done anything but read and make phone calls (and placed on hold forever) since the appt. It'll probably be a few weeks before I tackle this issue and spots. The good thing is Asa is manageable so for the most part we are OK for a while.

Fast forward to today... Asa woke up a little earlier than usual and he was mad! He usually spends 10 minutes cooing and kicking the wall before I go get him up. Today he was screaming from the get go. As I opened the door I could tell something was wrong. I could SMELL something was wrong! Asa had gotten sick at some point during the night and pooped (on his own, yay) and was a mess! When I picked him up I could tell he was warm too. He did NOT appreciate a bath first thing in the morning and was very vocal about it! That's pretty much how he spent the next several hours! He is not a kid who gets sick and just lays around. He's the kid who gets sick and screams and clings and MUST have you.... NOW. Its exhausting I tell ya! I'm not sure what the issue is but I'd guess viral. Nobody here's been sick and he isn't giving me huge signs of pain, just fever and cranky.

Oh and now would be a good time to mention tat I've had a pain in my neck for several weeks. Yesterday I broke down and called a chiropractor. I've never been to one but I knew I couldn't take meds that make you loopy so I went to a chiropractor. He stayed and overall I'm not too bad, yay. I do have a problem relaxing and probably having dense muscles locked up some stuff. At least that what I understood. I got news for him though, next week is worse! A trip to Vandy for cardio and GI here, I don't see me loosening up much! Anyway, he adjusted me, did some department muscle stuff and used an electro shock something. I did feel better but by the end of the night I ached all over. I guess those muscles were tight! I had to cancel today's appt since Asa couldn't go to school. And Monday we'll be at Vandy so i have to cancel that appt too. At least I can straighten my neck and even turn my head and I even got some sleep last night!! That's progress!

After all that complaining I bet you just can't wait for next weeks update on the cardio and GI appointments! :-) And I'm not going back to spell check and edit so if you have any questions about this jibberish lay them on me!

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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!