Saturday, April 16, 2011

A Room Full

I picked Ava up from school on Monday in time to eat lunch at the hospital cafeteria. Her much anticipated diagnostic appointment had finally arrived and we weren’t taking our chances on being late to it. We drug grandma along as well; dad opted to stay home with trouble making Mae.

Ava is still cruising on very minimal AED’s and her night-y night dose of benzo’s along with some good naturopathic products. We are not sure about REM sleep or night seizures but still have yet to see a recognizable seizure. She continues to have an extremely excruciating part of most days, at any given time with not enough rhyme or reason to establish a pattern or consistent duration time. We visit neuro-psych in the next week or two and he should have enough information from the visit I am posting of to establish a new pharmaceutical plan.

Dr Benke (neurology) likes the little chair; good thing because we also had Dr Gallagher (metabolics), Dr Scrivner (genetics) and Ms Med Student to find chairs for. We were cozy.

Benke said something along the lines of the chart being extremely large with not a lot to go on. He went on to remind me that; “if it were easy, someone would have already figured it out”. Thanks, I especially feel like I am getting my monies worth, now. Ha! It was actually a very nice gathering of minds. Ava had Dr Benke carrying her around like a princess before it was over.


Surprisingly, we are going for yet another round of the MECP2 testing. They can now determine if the gene is missing, not just pieces of it. Dr Gallagher said she would be the most unusual Retts case they had seen with no regression, normal head size, etc. It is hard to get people past her hands, still. I also get the feeling they are rethinking the role of MECP2 in general.

Next we move on to a gene extremely close to our friend UBE3A or Angelman Syndrome/PW. I could see this long before the MECP2, my guess is Mr. Neuro could too. Yet he may be looking ahead a bit further to the 2-4 day sleep and extended EEG monitoring along with any additional biochemical testing they are doing with a couple of cups urine and another 8 or 9 vials of blood.

Dr Benke again expressed concern for REM sleep as an explanation to the expressive language barrier. Dr Gallagher also mentioned future spinal, muscle, eye or skin biopsies for further metabolic studies. I have been waiting for the summary letter to post but still nothing, so I’ll fill you in on any misunderstandings I walked away with in a future post.

I’m just as clueless as before the appointment. In a field of endless changes and advances I have learned the door is never closed on any one “idea” that floats about her. If they call with an answer, you’ll be promptly notified. Don’t hold your breath!

1 comment:

Deana said...

I think we've seen Dr. B. a couple of times inpatient. Definitely Dr. G. knows Max very well.

I sure hope they can find some answers for you soon. It's great to get to a place where the docs are ready to figure it out!