Genies

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

Giddy up

Lately when I sit down to write here, tedious updates about A’s medical stuff spews forth. Life with A is so, so much more and yet still, every moment is tethered to how that medical stuff is going. Every seizures, and every minute between, is weighted. I hold my breath for the former, and my breath holds me for the latter.

Some crappy ones lately – long and scary. I rock him and coo, “hang in there bud, almost over.” I stroke his hair and coax, “take a deep breath, relax.” I know these words are more for me tho, that I am speaking to myself. A listens but he is busy managing himself in his own way. Then a seizure grasps him, his eyes dart to mine in panic, and I try to smile, I confirm he will be okay. It is for both of us that I keep steady. It is for us both that I soothe, comfort, smile. Together we wait for it to be over, and together we savour the time in-between.

E has started taking steps! He stands, steadies, makes sure someone is watching, and steps forward. Beautiful, courageous, confident, joyful. It is just fabulous, every time. Soon, I’m sure, he will be running. A few days after his first steps, he turned 9 months. Unbelievable, really.

A has enjoyed his own fabulous milestones. At a few months shy of turning 3, he has figured out how to get himself into sitting. Previously, it was something we would plop him into but now he transitions! Beautiful, courageous, confident, joyful. From sitting to all fours and back again.

He also had his first (of 8) horse-riding lessons. Too sedated and ill to attend last session, he was moved to the Aug/Sept round – so thankful he is so much more aware and awake and happy to enjoy it. Dude rocked it – so excited, unafraid. So open and free. I panted alongside, simultaneously holding him up on the horse, resisting his tendency to throw himself backward, yet still encouraging him to sit up straight. I tired to let my muscles celebrate his joy vs. tense from worry. We’ll both get stronger, I’m sure.

Back to CHEO on Monday, to meet with the Metabolics clinic this time. Apparently his poor reaction to valproic acid might indicate… something? Will know more soon. I’m not looking forward to more testing, but definitely interested in whatever more can be learned. Not sure we’ll ever discover “an answer” or anything, but always great to get more clues and find out new things that help him feel well.