8 Months on the Rollercoaster of — Mostly — Uncontrolled Epilepsy
With November being National Epilepsy Awareness Month #NEAM2019 I felt it important to share our story of being diagnosed and caring for a child with severe, uncontrolled epilepsy.
Our son’s story is not unique, and epilepsy is an equal opportunity disorder. The Epilepsy Foundation and #NEAM2019 want to remind you:
1. The correct seizure first aid is simple: #StaySafeSide
2. Epilepsy is NOT rare. There are more than twice as many people with epilepsy in the U.S. as the number of people with cerebral palsy, muscular dystrophy, multiple sclerosis, and cystic fibrosis combined.
3. Epilepsy is a chronic medical problem that for many people can be successfully treated. Unfortunately, treatment doesn’t work for everyone. At least 1 million people in the United States have uncontrolled epilepsy. There is still an urgent need for more research, better treatments, and a cure.
My wife, Lindsay, and I met 10-years ago, while attending Texas State University. Post-graduation, we moved to the Dallas area, close to my family, and eventually settled down in our first home together in a suburb called McKinney.
On May 15, 2017 Lindsay gave birth to our first child. A beautiful, healthy baby boy — Carter. He was perfect.
By 4-months-old we noticed ongoing strabismus, followed by nystagmus, then developmental delays. By his first birthday, we’re overloaded with therapies, referred for MRIs, EEGs, and specialists for vision, cerebral palsy, and autism.
This is our epilepsy journey with our now two-and-half-year-old, Carter.
February of this year: Carter is 21-months-old. My wife, Lindsay, 2-months pregnant with our second and a stay at home mom, tells me he’s taken a couple of random falls that she can’t quite explain.
The following week he has a 2-hour autism evaluation, during which he falls over half a dozen times, just as she’d described.
March 1st: We take Carter in for his second 1-hour EEG, 1-year after his first [clean] EEG. We get a call within 10-minutes of leaving the neurologist’s office and our fear is confirmed: clear as day, generalized epilepsy.
We begin Carter on his first medication the same day.
April: Zero control. Seizures have increased to 50–100+/day. The majority are atonic (drop) seizures; the remainder, atypical absence. We check into the ER to undergo a 48-hour EEG — discharged 24-hours in, as they’d, “captured plenty of data.”
It’s determined we’ll move Carter to a more experienced neurologist in the practice, and a new medication due to his seizure types.
May: We titrate up on the new Rx, to the top of the therapeutic range.
June: Lab work every other week, the neurologist monitoring platelets and medication levels — meanwhile educating myself in pertinent lab levels so I could also track alongside.
July: Medication side effects are horrible, Carter is a zombie after taking them, but we begin seeing signs of seizure control — even given the terrible side effects, our prayers are answered. 15 seizures… 10… 5/day! Seizure control is in sight.
Our neurologist orders an Invitae Epilepsy Panel.
We fly up to St. Louis Children’s Hospital for a second opinion with a tenured epileptologist. The Invitae Panel had been returned to our local neurologist the day prior, and he’d released the records to her. When she comes into the room to see us, she explains, Carter has a rare genetic epilepsy: SynGAP1.
August: platelets dropped to 68,000 per microliter (normal is 150–450,000). It was apparent from bruising on Carter’s legs before the lab work returned. 95% seizure control, and we must wean off quickly.
We meet a neurologist at Texas Children’s Hospital in Houston, one of a few in the US specializing in Syngap, and he recommends a replacement medication. We wean the 2nd Rx and titrate onto the 3rd. For a few weeks, hopes are high, seizures 99% controlled.
September: within days of fully stopping the 2nd medication, the seizures start back up. 5, 10, 25, 50/day+ and raging ever since. Sleep is disastrous, waking 3:30 or 4:30am daily.
October: I run Carter to Austin, TX, to meet an epileptologist (5th neurologist) specializing in refractory epilepsy. She prescribes Carter a 20:1 CBD:THC tincture under the Texas Compassionate Care Act, and simultaneously prescribes Epidiolex, the only currently FDA approved CBD (knowing the insurance approval process can be slow).
Entering November: We still do not have control, maybe a 50% reduction in seizures on our best days. We are continuing to adjust CBD dosage and praying for improved results. Just this last week, we were approved for Epidiolex, which will be our next step.
What if we still can’t find control? Near term, an Epilepsy Monitoring Unit (EMU) stay, ketogenic diet, continued medication trials; and longer term, potentially a vagus nerve stimulator, or corpus callosotomy.
Outside of work and family, I volunteer with Syngap Research Fund (SRF), a non-profit hyper-focused in finding treatment/a cure for SynGAP1. SRF is true to their mission of Collaboration. Transparency. Urgency.
We take this one day at a time. We pray hard for this nightmare to end. And we take joy in the happy moments, because overall, Carter is a happy toddler.
9 long months, 5 neurologists, and 3 AEDs behind us. We remain hopeful that the right combination of medications and treatments exist, and that we will find it.
Accelerating research for SynGAP1, and similar genetic epilepsies takes both money and increased awareness. Please consider donating to Syngap Research Fund, a US 501(c)(3) nonprofit organization. All overhead costs are absorbed by the founders and 100% of donations go directly to research!
If you liked this story, you can read another here: learn about Virgine & Ty.
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