Celebrating Inchstones: A sad day!

Tuesday, May 24, 2011

A sad day!

So much has happened in the last week that I need to catch up on but first I have some sad news. A sweet little mito friend died this morning. I met Karrie and Jason with Emma on our first trip to the Nashville mito meetings right after we got a diagnosis. Turns out they are from Memphis and Karrie has been a part of my mito moms breakfasts, lunches and dinners since!!! Karrie is one super moma and an amazing advocate! Emma was blessed to have these 2 parents! I can't tell you how special they are! And Emma is one sweet little girl. Such a fighter! She'd given us all a huge scare back in the fall but was doing well when passed away this morning. Just so sad! Join me in praying for peace and comfort for Karrie, Jason, their families and Emma's 1 year old brother and sister. I'm just having such a hard time finding words!

In other news:
Anna is a highschool freshman, Cade is a 5th grader, Gracie is a 3rd grader and Asa finished out his first year of school. Last week all the schools had awards days. Anna won perfect attendance (but skipped awards day for her fear of being recognized!), Cade won a Citizenship award and Gracie won an award for making A's and B's. Asa's class had a awards day but it was in the morning and he is an afternoon kid. It was also just to recognize the kids who were graduating into Kindergarten so Asa and I didn't go. When I picked him up from school that afternoon, I was surprised by an award for myself!!! Asa's teachers recognized me as a great parent! How nice is that!!!

Asa has his stick test with the allergy doctor on Friday. Can you even imagine how excited I am about this! I'm sure it'll be fine and you just do what you gotta do but it won't be pretty! Asa has gone a couple of weeks with no puking episodes and just this week started it up again! I'm sure having a dozen needles poked into your back will induce puking. The plus side is it should give us answers and force me to be strict about Asa's diet. I've been so wishy washy about the no diary, not really wanting to make changes until after the tests.

I'm sure there was much more news but I'm so distracted that I can't recall. Maybe tomorrow I'll just go through my pics and see if I can come up with more to post.

2 comments:

Sarah said...: I'm so sad to hear about little Emma. This disease is SO HARD!!!! and takes way too many little lives :( Her family is in my thoughts and prayers.

I chuckled a little about Anna skipping the ceremony. sounds like something i would have done back then lol.; May 25, 2011 at 11:06 AM
Kim and Asa said...: Sarah if it involves pubic recognition Anna is OUT!!! The first year that I let her skip was 6th grade. I later found out she was Student of the Year for 6th grade! Nice! :); May 25, 2011 at 5:14 PM

Post a Comment

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!