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what to do about a little kid who is missing enzymes and is unable to produce them?

Never heard of this problem until yet another friend explained yet ANOTHER illness her kid has.

 

"I wish all the enzymes could be replaced but they can't be. I am waiting for information on her problem as to what needs to be done. I know it is a congenital defect and is inherited. I was also told she has to see a geneticist to confirm one of 2 diagnosis. I did some research on the two that can't be replaced and only one is pretty concerning. It is an enzyme that converts sugar to glycogen and then to energy. What happens is it doesn't get converted into energy it gets stored as glycogen in the muscles which is why she feels like the Pillsbury dough kids when you touch her.

Enzyme therapy was tried in the 70's but they just didn't get the results they wanted. So know it is up to research and funding to find an answer."

 

She's such a little sweetie, I get sick of people practicing medicine on her. Any ideas off the top of your head?

 

Candace Everything will turn out well in the end. If things are not well now, then it is not yet the end.

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