So yesterday morning, we had our 1st appointment w/Dr. Bow Tie. He was rapidly inducted to the "family appointment" as my mom, dad & brother all joined Todd & I for the appointment.
I'm just going to do stream-of-consciousness style to update the visit, so this may jump around a bit.
Lily's EEG showed spike & wave activity plus modified hypsarrhythmia while sleeping. It's improved over her initial diagnosis (when she had hyps all the time), and it is good that she doesn't have the hyps while awake. But, of course we're going for seizure free & clear EEG.
The activity appears to be even across all hemispheres of the brain, and therefore he does not think surgery is an option. I would eventually still like to pursure a consult with Dr. Detroit to get his opinion. There are many, many stories of local neuros saying "not a surgical candidate" but then Dr. Detroit works his magic & does surgery & child becomes seizure free.
Dr. Bow Tie thinks that the skin/muscle biopsy is definitely a worthwhile test as apparently metabolic/mitochondrial disorders can also show hypometabolism on a PET (which is what Lily's showed). Of course, cortical dysplasia also shows as hypometabolism on a PET, so it could still be either. My gut tells me we're working with some sort of dysplasia as opposed to a metabolic/mito disorder, but then who knows? So, there isn't an urgency to get the surgery and/or 3T-MRI, so we can put that off a bit.
The biggest news, perhaps, is that we've added Prednisone back into the mix and lowered her Topamax. Dr. Bow Tie didn't even flinch when I said that I had backed off a bit on the top, and was very agreeable to lowering it to the level she was at when she had the 24-hr EEG (75mg 2x/day). In all, we've lowered the dose by about 45% which I'm pleased about. I've already seen a big improvement in her level of alertness this morning, and her playfulness. We started the prednisone this morning, and so far I don't think I've seen any spasms this mroning. We'll see how the afternoon goes, of course.
We also talked about Ganaxolone. We think that actually Lily won't qualify for the study because she's tried more than two AED's over the course of her treatment. So I'm going to email the director & ask about that, and if she does NOT qualify, I'm going to ask about "compassionate care". Compassionate care is apparently where someone who doesn't qualify for the study, but would sitll benefit from the drug, can appeal to the FDA to get an exemption & start the med. Hopefully I'll hear back from the director soon.
That's pretty much it. Oh, I guess if the prednisone doesn't work in controlling the spasms, and if we can't get Ganaxolone, the Keto Diet is our next move. Cameran's Mommy, Karen, posted a great description in Cam's blog of what their typical day on the diet is like, complete with diet menu. Starting the Keto Diet would be a HUGE committment, and very time consuming & tricky (with a brother who likes to "share" his food with Luh-leee), but if it helped control the spasms, we'll make it work.