A Note from Liz: I am not a medical professional, just a parent of a child who has epilepsy related to Angelman Syndrome (AS). The purpose of this post is to share my experience with recognizing, diagnosing, and treating our child’s epileptic seizures. This post is not a substitute for professional medical advice, diagnosis, or treatment. If you think your child may be having seizures, please consult a doctor.
It is 3:09 AM.
Cami and I have been awake for 2 hours now.
In this time, she’s had no less than 35 seizures.
This doesn’t happen every night but it’s becoming more common. Maybe she’s developing sleep disorders - we know she has more seizures when she’s tired? Or maybe the seizures are interrupting her sleep? Hopefully it’s just a growth spurt. Is she coming down with something? Hot? Cold? Hungry? Thirsty? Overstimulated? Separation anxiety?
Truth is, I have NO idea what is triggering her seizures or how to help my baby - this is HARD.
November is National Epilepsy Awareness Month. Did you know that over a lifetime, 1 in 26 people will develop epilepsy? As someone who has never had a seizure nor had someone in my immediate family who has had seizures, I found this shocking. For those with Angelman Syndrome (AS), about 80% will struggle with epilepsy. After several months of suspected seizures, Cami was diagnosed with “genetic epilepsy” in June 2019. Of all the symptoms we’ve faced, epilepsy has been (by far) the most complicated and worrisome.
Here’s what I’ve learned about epilepsy so far:
How to spot a seizure.
Prior to Cami, the image in had of seizures included a person falling to the ground unconscious, eyes rolled back, muscles stiff, and shaking for several minutes. These are known as “tonic-clonic” or “grand mal” seizures, but this is only one type of seizure.
At Cami’s first neurology appointment, I asked if she may be more susceptible to seizures. The only reason I knew to ask is that I had been researching many conditions that Cami may could have had and noticed seizures were often a symptom. Her doctor said she may have a slightly increased risk for seizures, but he didn’t seem concerned.
Just in case, I began watching YouTube videos of seizures in infants and toddlers. I found that many types of seizures actually look quite subtle and may be easily overlooked. Here’s an example:
At 11-months, Cami spiked her first fever leading to her first seizures. It was not a typical febrile seizure. You know that feeling RIGHT as you’re falling asleep where you feel like you are falling and your body startles? They looked like that and were happening every couple minutes. After her fever broke, her seizures went away. Her doctors were cautious to agree with me that they were seizures, but having watched many seizure videos I was confident they were.
At 13-months, I began suspecting seizures again. Cami has recently learned to sit up but would occasionally fall over - not in the way of a baby learning balance, but in a more forceful way. Again, her doctor didn’t quite agree with me yet that they were seizures but ordered an EEG. Unfortunately EEG’s are only helpful if the patient actually has a seizure during the test. At this point, her seizures weren’t occurring so neither of her first two EEG’s identified seizures.
At 15-months, we received Cami’s Angelman Syndrome (AS) diagnosis and learned it is very likely she’ll develop epilepsy. This verified everything I had already known - Cami HAD been having seizures! Around this time, they began significantly increasing in frequency and intensity. Finally, a 24-hour EEG conformed she was having up to 14 generalized myoclonic seizures every half hour.
Treating epilepsy is complicated.
Seizures are classified by a few things: 1) how they begin (the onset), 2) the person’s level of awareness during the seizure, and 3) the movements that happen during the seizure (Epilepsy Foundation). This impacts how they are treated, but that’s not all. Every person’s brain and condition is different. Epilepsy in people with AS isn’t fully understood, but research suggests it has something to do with the GABA Receptors that are missing as part of her chromosome deletion.
For those who like to get technical: gamma-aminobutyric acid, or GABA, is a neurotransmitter that sends chemical messages through the brain and the nervous system, and is involved in regulating communication between brain cells. The role of GABA is to inhibit or reduce the activity of the neurons or nerve cells. GABA plays an important role in behavior, cognition, and the body's response to stress. GABA receptors on nerve cells receive the chemical messages that help to inhibit or reduce nerve impulses (Everyday Health).
All this went into deciding how to best treat Cami’s epilepsy.
With the guidance of Cami’s neurologist, we started with Keppra - this seems to be the drug of choice among many due to its low side effect profile. Unfortunately, it made Cami incredibly sick. Then we moved to Onfi - another favorite among many AS families. This one worked GREAT for Cami with very few side effects and good siezure control for the first few hours of the day. Unfortunately, after nap, it was as if she had had no medication at all. So, we decided to try adding in a third medication - Zonisamide. And for awhile, we were seeing improvements - 100+ seizures a day to under 25, that’s a win!
Unfortunately, over the last few weeks - we’re back up to 100+ seizures a day. We have no idea why. Here’s a video of one of her seizures from tonight (p.s. I had just taken her out of her pajamas in case she was too warm and that was causing her seizures):
At this point, we're clearly not giving up but are feeling defeated, frustrated, and incredibly helpless as she struggles through seizure after seizure. We do our best to create “perfect” conditions for her - so she’s not too tired, hungry, or hot - and to protect her from injury. We are in communication with her neurologist considering another medication, we’ve met with a Keto Clinic to explore diet-related seizure control options, and we meet with an Epileptologist in the next few months.
Epilepsy SUCKS.
There is really no other way to say it… it’s horrible.
I don’t know personally know what it’s like to have epilepsy, but I see how it impacts Cami. Following seizures she is often confused by what just happened uncontrollably to her body.
She’s tired. These seizures are wearing her out and it seems to be limiting how much capacity she has to focus on other things necessary for cognitive, social, and motor development.
She gets hurt. As much as we try to prevent it with helmets and soft surfaces, sometimes her seizures hit so hard and fast that she falls forward and hits her head on the surface in front of her or falls back and hits her head.
It’s scary. For those who are new to this, like me, SUDEP is a thing. SUDEP is the sudden, unexpected death of someone with epilepsy who is otherwise healthy. Each year, about 1 in 1,000 people with epilepsy die from SUDEP. This is the leading cause of death in people with uncontrolled seizures (Epilepsy Foundation). I can’t tell you how many times I’ve put her to bed wondering if she’d be awake in the morning.
The Good News
We’ve got a great medical team and we are not out of options. Many other AS families before us have walked this path and have achieved complete seizure control - so we will get there one day too!
Looking for a way to help Cami and kids like her? Please consider supporting our fundraiser for the Foundation for Angelman Syndrome Therapeutics who is entirely focused on one goal: CURE ANGELMAN SYNDROME. With your help, Cami and kids like her won’t have to live like this forever.
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