Tuesday, March 18, 2014
There has been a lot going on in my house hold! There are a lot of unsure things that are happening right now with a lot of waiting! For a parent... sometimes waiting is something you have to endure, even in the everyday little thing. Waiting for your child to get dressed to go to school. Waiting for your 4 year old girl to make her way to the car while she dances and sings before being buckled into her car seat, when you are in a hurry! Things like that are the everyday waiting.
The most recent has been blood work done, to test him for a rare disease called Pompe II . "...is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages." (Pompe.com)
"Pompe disease is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase (GAA). The absence of this enzyme results in excessive buildup of a substance called glycogen, a form of sugar that is stored in a specialized compartment of the muscle cells through out the body." (Pompe.com)
"The progressive nature of the disease means that it always worsens over time, although the speed of this progression can vary from patient to patient." (pompe.com) The good thing is there is an enzyme replacement treatment... if he has it that he could get. It's not a cure but can slow down the disease progression. There is a movie out talking about this replacement therapy called. " Extraordinary Measures", with Harrison Ford and Brendon Frazure. Very informative movie.
He took his blood work on February 3, 2014 and the CK, vitamin D were taken that following Friday. I have gotten results back from the to other test, but the GAA test was sent to Duke University. We are still waiting for the results. So the best way I know how to wait is by looking up everything I can on this disease so that I can understand it and have the right questions for the dr. and have a little bit of control. I keep in mind that this is a ruling out thing as well for the Doctors. They found somethings in the muscle biopsy that would give them the reason to test Alex. So as I wait... only in his (Gods) timing do I wait. I can't change the results... I just have to know that the Lord is with us and is help guiding us. Some nights are easier that other but most night are good!
Some parents want to find out everything they can and some parents don't want to know anything until it happens. But in any case the Lord will be with you and guide you.. Just look upward not outward. When the time comes... when your heart is prepared for what ever outcome. May the Lord reveal what he wants in his own timing. Prayers are much needed! (Smiles)
Emma is as spunky as ever though she amazes me with how much she does know! I am excited that she knows her alphabet and knows how to write her upper case letters. She knows 1-10 and learning how to write them. We are working hard. I just signed her up for Transitional Kindergarten. So is so excited and ready to go!
Love looking at them and seeing their growth and help them through the struggles. Yes, it's A LOT of work but I know I was born to be a Mother! It truly is a blessing. (I could do with out the cleaning, and the cooking . Smiles)