>> Thursday, May 24, 2012
Bug has been scaring me lately. Acting very tired, not eating much and having one to three seizures, that we know of, a day. I waited to do anything because we were set to see Dr. Filloux today.
After a bad morning, although a good breakfast (hooray McDonalds...it never fails), Glenn, Ava and I took the Monkey Boy to see the Doctor.
Pleasantries were exchanged, medication history transmitted, blood work discussed and a new direction agreed upon: up the Lamictal to 250 twice a day, leave everything else the same and then leave Onfi on the table for failure option.
Dr. Filloux became slightly animated as he said:
OH! I meant to talk to you about something we found in his Cerebral Spinal Fluid.
Wait...what..what...what? Something? You found SOMETHING? How Something?
He is almost completely missing a very important neuro transmitter.
Thud. That was my stomach.
5-methyltetrahydrofolate (5MTHF)...I recognized this immediately. At least closely...MTHFR. Remember that? Not related but still...I can say it.
Doc says: There is a condition, that I think we should treat him for. Treatment is an analog folate supplement.
Zing. That was my heart soaring.
He added: It is exciting to see how he responds...we actually found something we can treat.
I looked at Bug and then Glenn and wanted to cry. I am trying to hold myself in check but this has to help him. He is deficient in it so it HAS to help in some way. This is an exciting moment...and all I want to do is dance. But I won't. Not yet.