The genetics appointment yesterday was basically pointless, yet still took up a full day with the waiting around, 2hr one-way travel time, meals away from home, etc. Neurology asked them to scan for genes that are known causes of myoclonic epilepsy, to see if any of A’s are affected, in addition to his known microdeletion. Likely not, and even if there is a hit there, it won’t change things or tell us much more than… avoid valproic acid. Which was already a try and fail.
We did use this time tho to get all of our family’s blood taken and sent to Georgia State University for a study there. One of the researchers seems to be particularly interested in the genes that A is missing, so we’re signing up as a data point. It too won’t tell us much more than what we already know, but it’s our contribution to SCIENCE! Maybe someday A will have a paper written about him. Today, I must scan and email 50 pages of consent forms.
Weirdly, his neurologist wants us to add another medication called Lamotrigine. I say weirdly because we are still just 6 weeks into the ketogenic diet and from what I’ve read, it can take longer than that to tweak/click. In the meantime, medication can gets in the way. So why add more? Especially when the likelihood of yet another drug working at this point is quite low.
At yesterday’s appointment I exclaimed, “Nobody knows anything!” because… it’s true. It’s all such one big experiment. There are no sureties, comparisons, or predictabilities in this realm of the undiagnosed child. There is only time. And perhaps luck.
Do we start a new medication, especially when the last one was SUCH a bust? Do we remain patient with a limiting, time-consuming, pricey diet? Do we attempt to chart the waters of medical marijuana oil? Time, guide me. Universe, give us luck. Let our scientific donation pay us backward in this circular orbit of space-time.E contemplates ginormous zucchini