Celebrating Inchstones: The end of awareness week

Saturday, September 25, 2010

The end of awareness week

Today was the last day of Mitochondrial Disease Awareness Week. So I guess I'll just put my soapbox up and bring it out again next year.......NOT!!

I started off strong this week. I had materials ready at Asa's IEP on Monday. We had awareness night at Chick-fil-A on Tuesday. I've made phone calls and sent some emails. And if you are a Facebook friend, you know I've driven you CRAZY with the mito posts and mito info. Then when I checked Facebook on Friday, I had the wind knocked out of my sails!

As I sat down to have my first cup of coffee and read FB and emails, I found this post by a dear mito mom, Missy:

Samuel received his healing tonight. He is now dancing in Heaven, eating ice cream and brownies. I will forever love and miss my perfect little boy.

Can your heart be torn apart any more than hearing about the loss of a child? A 4 year old! What about the loss of a child from a disease that so many have never heard about? And I was feeling so proud of myself for having told 2 dozen people about mito this week! REALLY?! How inadequate!

I only met Missy and Samuel in real life this summer at our visit with Dr. Koenig in Houston. It wasn't planned and it was just quick introductions and hellos. We were leaving the office and there sat the Knight's in the waiting room. I had "met" Missy online shortly after Asa got diagnosed. A year and a half ago Samuel got very, very sick and because of Missy's update and sharing, I began to feel like I had met them in person and not just through a computer screen. It may seem odd to some people to think you can form friendships and bonds even though you are many many miles away. I can say though that I have so many online friends who I love so dearly and who have touched my heart even though we've never met in person. I have to say that I've only chatted with Missy a few times online, a few messages back and forth, so I can claim no right to any of the pain or hurt or sorrow that his family and friends must be feeling.

And my point is just that. How can a child and a family who you've only just gotten a tiny glimpse of, touch you so much? I believe it is all God's plan. I believe God just creates some people to be able to touch others so deeply. I don't understand why He then takes these precious souls too early. There is a ton I don't understand.

But I do know this, if you check many of the blogs listed to the right, there will be a tribute to Samuel. And I know that his story and his name has been shared over and over and over. I know his lessons have traveled and will continue to travel. And I know he will be in my mind and heart for many, many, many more awareness weeks.

So when I'm burning up Facebook with mito reminders or shoving flyers in your face or screaming about mito or begging for donations to the UMDF, it isn't just for a cure Asa and some stupid, bothersome muscle weakness. Developmental delays and feeding tubes are just a drop in the bucket. If you look at Asa or our family and feel sadness or pity or better yet, think "but for the grace of God....", I ask you to think of the Knight family. Think of Missy and Ben, Samuel's parents. Think of Lauren, his big sister. Think of Cooper and Alex, his best mito friends who are both in the hospital at the moment. Think of their loss and grief. Then think of what could have been for a beautiful, happy, friendly, sweet little boy whose little 4 year old body was ravished by an ugly, terrible disease called mito.

Will we have a cure tomorrow? NO. We will have a treatment tomorrow? Doubtful. Will we have awareness tomorrow? I will. Will we have hope tomorrow? I do.

If you want to read more about Samuel and his wonderful family you can here. And be sure to check out Amber's tribute to Samuel at her beautifully written blog here.

And don't forget to hug your little (or big) ones tonight! What a blessing! Each time I pulled up Asa's meds or made a bottle of Pedisure the last few days, I've whispered a prayer for Missy and thanked God for Asa.

1 comment:

Missy said...: Thank you... thank you so much. Your post is beautiful. And while we only met one time, those few moments have bound us together forever.

Missy; September 27, 2010 at 4:25 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!