We had a fun visit at Neurology planned for September. It’s been on the calendar for about a month now.
Yesterday the phone rings.
“Yo, can you make it in tomorrow? At the crack of dawn?”
Ummm…wake up at 5:45am, take a ferry, fight Seattle traffic during rush hour on a weekday?
Glutton for punishment – reporting for duty!
Today’s Neuro clinic visit broken down: Dr is concerned that Faith’s FMF genetic mutation may not be an isolated issue. Jimmy and I need to undergo DNA testing to see if we are carriers of the “normal” FMF mutation. Even though Faith has the mutation on both sides of her DNA, the Dr is concerned that it is actually part of a larger DNA deletion. Like we took a snapshot of a window that showed a crack in the glass, not realizing that just outside of the picture is shattered glass. He also brought lots of new big words to the table. Like myasthenia gravis.
Oh, and he wants to do a (lack of)sleep study. Can you hear me laughing?
We are running a bunch of bloodwork looking at autoimmune thingies and value-ma-bobs.
(Note – those are not the official medical terms)
This isn’t good news, it isn’t bad news, it’s an ehhhhh. If we hit something with the autoimmune testing or with the myasthenia gravis, then there are some treatments to explore but not guarantees obviously. If we find a larger genetic deletion it will most likely just be a new word to learn and add when talking.
Dr. R is awesome! He is requesting her records from all 4 major medical centers we have been stationed at with her and he is going to put together one long dictation of her history based on records and tests. Then he’s going to send it to us to add in “parental notes” so we have it when we move.
That will be so helpful!
And here is a picture of Faith and her dolly, both sporting bandages.
All together now……awwwwwwww!