Test results from muscle biopsy
If you might remember, Simon had a muscle biopsy last Monday. This was in hopes of trying to figure out what type of metabolic disease he might have. We talked to the Metabologist today after they had a chance to review part of the results.
It seems as though Simon has enlarged mitochondrial and this is even further proof of pyruvate carboxylase deficiency. In short the problem is with his bodies ability to create energy. It cant turn fat into energy and when under stress it can cause the problems that brought him in here in the first place (heart, lungs, liver and more shutting down.) This can also cause some of the cases of SVT and elevated breathing rate that we have seen recently. To help couteract this deficiency they have Simon on a special formula which will help but it means he will need to stay off of breast milk.
The good part is that it will not be likely that he will have another crash as bad as the one that put him here. They are hopeful in that he has been responding to many things just fine and his motor and muscle skills seem normal. There is no treatment to this as it is a genetic disease but we can help to compensate for where the genes leave off via diet. We pray that as he grows his body will be able to produce the energey it needs so that he can live a normal life.
They are still awaiting results from the skin biopsy which might give us a little more information.
They are also want to do a sleep study which will either be tonight or tomorrow night which means a delayed release. I think we will stop telling everyone when we expect him to be discharged because the doctors keep making liars of us:)
Thanks,
Dean
posted by Tom @ 2:08 PM
3 Comments:
We are all still praying with you for a quick release! I praise God that he continues to bless your family through this hard time with so many answers to prayer! We will keep the prayers going.
The Avey family wants to thank so many for praying. For the offers of help for watching the kids back home so Grandma can still work some is so helpful. We've been doing fine and a few folks have brought over a couple of meals. Folks have scheduled meals for this week and help with the kids esp. with the thought that Dean, Summer and Simon will be coming home. Thank you for all the prayers and help. We are humbled and grateful for all the prayers, concern and love that has been shown to us. Simon's journey has affected so many. We'll never know this side of heaven how God is working in so many lives because of Simon and his family. I see that God is using this to bring glory to himself in so many ways.
Thank you again.
Sandi Avey (Simon's grandma)
Just wanted to let you know that we are praying for you and Simon and that God's glory will show through this hard time. Thank you for trusting me with your children. Toby and Trey are wonderful children. (and I am sneaking hugs from Trey when he lets me) :) We are praying that somehow the Dr.'s will be able to find a solution to his illness. We love you all!!!!!
Reg and Cherri
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