dr updates

Last week we went to Boston to the Mito doc. We spent about 2.5 hours there and did a lot of talking and updating. She took a lot of blood samples for testing. Some routine, some not. We are going to do the full mtDNA sequencing. Apparently, Dr. Shoffner only did a focused mtDNA sequencing. The hope is that finding where a mutation is will help with treatment. If nothing turns up on the mtDNA, then we will do a focused nuclear DNA search based on her presenting symptoms. We won't be able to do a full nDNA sequencing because it would take too long and cost too much (there is so much nDNA that would need to be searched). So, that's in the works. Also recommended is an eye exam (already scheduled for August), a possible visit with a urologist (Jim and I still have some urinary concerns), and a call to the neuro because of her increased floppiness. Ever since Eve threw up in the beginning of the month she has been extra hypotonic. I talked to the neuro twice on Thursday. He contacted the mito doc to see what blood testing had been done (he wanted certain things like a blood cell count). Some of what he was looking for was done (and was normal) and something (I can't remember what) was not done. He's going to mail me an order for a blood draw that I can do at the local hospital. After that, we will just wait to see him in September for our semi-annual followup.

Strep is floating around Eve's summer program. We are crossing our fingers.