muscle biopsy

Today we had the appointment with the surgeon, to schedule Gabriels muscle biopsy. This is the last of testing the genetic and neuro doctors are planning on ordering. So frustrating! Feels like there giving up, like oh well, we cant figure this out, time to move on. But im not giving up on my quest to get a diagnosis for my little prince. So next wed he will have the muscle biopsy as an one day procedure at all childrens hospital. Im hoping to get the results in about a week. Then if it shows something, I guess thats good, so we know what direction to move into, but if its negative I want to take him to the genetic specialist at USF. I want  a second opinion.

While I was at All Childrens today I decided to pick up copies of labs from when Gariel was in the hospital with the abcess last month. Cause they did a urine look for cystine to check for hypotonia cystinuria syndrome. My great and wonderful friend Kelly researched this and found that Gabriel has almost all the symptoms. I looked up this disorder too, and couldnt find too much about it. Its a very rare disorder, but worth looking into. I was told by the ped that Gabriels urine was not consistent with the disorder. But I looked at the lab results and Gabriel does have cystine in his urine, but hardly elevated. Reference range is 0.03-0.15, and Gabriels was 0.16, im not sure how high it needs to be to be a positive for the disorder, but I definitely think it should be rechecked with a strieght cath or 24 hour urine. This is something I will be bringing up after the muscle biopsy. Another thing, that may or may not matter is that in every urine Gabriel has had done, there has been amorphous crystals in his urine..The docs say that this is normal, im just say'n.

To top everything off, my little mans scoliosis is getting worse, I dont even like to look at his back with his shirt off, it scares me too much! We have his first appointment with ortho in 2 weeks, we'll see if he needs a brace or a wheelchair, or what we need to do so this wont get worse..