OK I know I haven't updated Joshua's story lately. There wasn't anything to update yet. But now there is. Ok May 8th Joshua had an appt to see genetics in St Petersburg. Dr Crenshaw decided to take another test which is the second part of the mitochondria testing. I spoke to her about the cdkl5. She said well lets see what happens with the results about this testing and once you see Neurology if she decided to say that it is the cdkl5 she will make an appt to take the test. The person who took the test was great one poke and she was done. Then the good news is that they took two tubes of blood. One for the test and the other to bank it. Which means if they need more blood from him to take that test then they don't have to poke him again. They can use that one.
May 28th 2013. His Neurology Dr. She is his new dr from now on. The one near us in no longer his dr. They discharged him. I gave her all of his paper work. She copied all of them. She looked on one of the genetics paper from st petersburg and she said I see here that you may think it is cdkl5. So tell me about that. So I told her that he has all of the symptoms. Except for two of them. And she said she agrees with me. She wants an updated eeg and mri. and he is getting blood drawn. Then she wants my husband and I to take a genetics testing. Which is the whole exome sequencing test to see which side is it coming from.
I thank the lord that these two doctors are actually doing something to help my son. these dr's that are closer to me isn't doing anything cause he doesn't know what is going on. He doesn't want to test my son for anything. How are you not going to know if you don't take the test? Once it comes out positive for cdkl5 I will go see Dr Williams and tell him that he is positive for it. He is also shock that I know more then he does.