What a Week
The beginning of the week the Make a Wish wish granters came. Kim and Tracy we fabulous; they asked a ton of questions, wanted to know some of Ian's favorites, color, movie, book, music, food...then they went onto play the wish game. If you could go anywhere..., if you could meet anyone..., if you could have anything...., and if you could be anyone.... As a family we had been playing the wish game over the past few weeks so it would not be as much of a struggle with him when it came to this. His 1st wish is to meet Spiderman, 2nd is to go on a Disney cruise, and 3rd is to be a firefighter. Our wish granters told us they do their best to make the 1st wish come true. The next steps are for Dr. Raymond to approve travel and the Make a Wish foundation board to approve for funds and liability issues. So now we wait to find out what has been approved. Kim and Trish talked with Brian and me filling us in on some other things. They wanted to know if we had luggage, a camera, and car insurance. They will rent us a car. In addition, they check to see if we needed any medical equipment…nope just a fridge for medicine. They check to find dates which are good for us to travel and to see if Ian gets any kind of treatment that would prevent us from traveling at a certain time. It is truly amazing how they do it all.
Yesterday, I received a call from Dr. Raymond’s nurse to let me know the gene analysis results were in … and the results are…NORMAL. So what does this mean…he does not have Tyrosine Hydroxylase Deficiency, even though the spinal fluid indicated the possibility? Brian and I had a conference call with Dr. Raymond a few hours after we heard from the nurse. We had numerous questions, most of which he did not know the answers to. The plan of action, he would like to run another gene analysis Sepiapterin Reductase. This is another dopamine neurotransmitter disease. Dr. Raymond feels Ian has some characteristics of this, even some which are not characteristics of Tyrosine Hydroxylase. Today he spoke with the doctors in Atlanta (the lab where all of Ian’s test are being done); they have enough DNA to start it so Ian won't have to get stuck again. In addition, there is a chance Ian will be started on other meds; we will not be stopping what he is on as he is making progress on it. Dr. Raymond did say based on the results from the spinal tap; Ian has a neurotransmitter disease it is just a matter of finding out which one. Feel free to ask questions what ever we are looking at it is rare...
While taking a bath, he is able to pull the plug…which he was able to before his set-backs in July and December. He continues to get stronger each day, walking with his walker more, sitting and sliding around the house as well as sliding down the steps. Self-feeding as gotten better, his OT from Mt. Washington has given us an adaptive spoon which has made Ian more independent with spoon foods.
Yesterday, I received a call from Dr. Raymond’s nurse to let me know the gene analysis results were in … and the results are…NORMAL. So what does this mean…he does not have Tyrosine Hydroxylase Deficiency, even though the spinal fluid indicated the possibility? Brian and I had a conference call with Dr. Raymond a few hours after we heard from the nurse. We had numerous questions, most of which he did not know the answers to. The plan of action, he would like to run another gene analysis Sepiapterin Reductase. This is another dopamine neurotransmitter disease. Dr. Raymond feels Ian has some characteristics of this, even some which are not characteristics of Tyrosine Hydroxylase. Today he spoke with the doctors in Atlanta (the lab where all of Ian’s test are being done); they have enough DNA to start it so Ian won't have to get stuck again. In addition, there is a chance Ian will be started on other meds; we will not be stopping what he is on as he is making progress on it. Dr. Raymond did say based on the results from the spinal tap; Ian has a neurotransmitter disease it is just a matter of finding out which one. Feel free to ask questions what ever we are looking at it is rare...
While taking a bath, he is able to pull the plug…which he was able to before his set-backs in July and December. He continues to get stronger each day, walking with his walker more, sitting and sliding around the house as well as sliding down the steps. Self-feeding as gotten better, his OT from Mt. Washington has given us an adaptive spoon which has made Ian more independent with spoon foods.
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