Father of Two
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My 3 year old daughter, SJ, is an extremely active, smart, and fun loving kid. She’s also had some varying heath issues and now we’re dealing with a new one: epilepsy. First, the background…
When she was less than 1, our doctor noticed she was holding a book very close to her face. Turns out she had very poor vision (-10.5) and required glasses. After consults with optometrist and a pediatric ophthalmologist, we executed some genetic testing and discovered she has a genetic condition known as Stickler’s syndrome. This actually ended up diagnosing my wife and her family as well! Her form of this is “minor” and it impacts her body’s ability to create connective tissue. This is expressed through poor eyesight, increased chance for retinal detachment, and “flatter” inner facial construction. Because of this latter part, she’s dealt with many ear infections (30+) and is currently on her 3rd set of tubes (more on that later). Other than that, we’ve been able to thrive through this diagnosis, until this past August.
While at daycare, she had an “episode” where the teachers weren’t sure if she passed out or had a seizure. Fast forward a few weeks and she had a seizure in our home, the day after we brought her baby sister home from the hospital (talk about poor timing!). EEGs were ordered - normal. Also scheduled an MRI for end of November and we started on the road of Keppra. Then another seizure. Neuro’s response - Let’s just increase the dosage! Another seizure? No worries, Let’s just increase a bit more. Fast forward to mid November and she went into a cluster seizure episode. Come to find out one of her tubes was blocked and there was an infection in her mastoid and temporal bones. Fun times!
We’ve gotten her tubes replaced and then had an MRI in the same week. Infection is gone and MRI showed no issue. Genetic testing also shows no issue. Soooooo we’re left with? Seizures with no root cause. Epilepsy. This sucks!
Between August and Dec 1st, she has had roughly 15 seizures. Diagnosed as “global-partial”. Some express with some eye twitch/arm clench while others appear very absence in nature. After her Dec 1st seizure we were put on max dose of Keppra (luckily she’s had zero side effects with this drug…no anger issues at all). We were also told if she has more, we’ll need to transition to a new drug. Even through all of this, she has no lasting side effects - once she recovers, she has full memory, full speech, and no physical limitations. Some recoveries take seconds and others have taken up to 30 min or so.
We lasted 4 weeks at the max dose with no issue. It was a great holiday season and we thought we had found the right dose of the right AED to manage this.
Then she suffered her longest seizure yet - close to 8 minutes. After we passed that 5 minute threshold, we administered her rescue med rectally and while it brought her out of seizure, she slept for close to two hours afterwards.
And here we are today. Waiting on her prescription for her new med (lamotrigine) with the full knowledge of the titration schedule to protect against Stephen Johnson’s rash. Knowing the next 8 weeks, we’ll likely have more and won’t know if this new med will work until that dosage is reached.
That’s her story.
The reason for coming for this forum is that I’m over the “guess-and-check” nature of the treatment plans from neuro and want my daughter, specifically, to be considered! Maybe her story can trigger some solutions that others have found? Specific questions include:
- Has anyone had experience with epilepsy and Stickler’s and found a connection there? All docs have said no to date.
- Has anyone had any experience with glasses (incorrect prescriptions? External Pressure on the face? Etc) causing seizures?
- has anyone had experience seeking alternative treatment plans which work? Specifically thinking of seeing a DO. Any experiences (positive or negative) that we should consider?
I realize there is a lot of unknown in this space and everyone is just doing the best they can. But feeling as if we’ve crossed the threshold of stopping the pursuit of “root cause” in favor of just “symptom management”. I refuse to accept that at this time. Maybe I’ll be forced into that in the future, but not today.
Thanks in advance for anyone willing to reach out!
When she was less than 1, our doctor noticed she was holding a book very close to her face. Turns out she had very poor vision (-10.5) and required glasses. After consults with optometrist and a pediatric ophthalmologist, we executed some genetic testing and discovered she has a genetic condition known as Stickler’s syndrome. This actually ended up diagnosing my wife and her family as well! Her form of this is “minor” and it impacts her body’s ability to create connective tissue. This is expressed through poor eyesight, increased chance for retinal detachment, and “flatter” inner facial construction. Because of this latter part, she’s dealt with many ear infections (30+) and is currently on her 3rd set of tubes (more on that later). Other than that, we’ve been able to thrive through this diagnosis, until this past August.
While at daycare, she had an “episode” where the teachers weren’t sure if she passed out or had a seizure. Fast forward a few weeks and she had a seizure in our home, the day after we brought her baby sister home from the hospital (talk about poor timing!). EEGs were ordered - normal. Also scheduled an MRI for end of November and we started on the road of Keppra. Then another seizure. Neuro’s response - Let’s just increase the dosage! Another seizure? No worries, Let’s just increase a bit more. Fast forward to mid November and she went into a cluster seizure episode. Come to find out one of her tubes was blocked and there was an infection in her mastoid and temporal bones. Fun times!
We’ve gotten her tubes replaced and then had an MRI in the same week. Infection is gone and MRI showed no issue. Genetic testing also shows no issue. Soooooo we’re left with? Seizures with no root cause. Epilepsy. This sucks!
Between August and Dec 1st, she has had roughly 15 seizures. Diagnosed as “global-partial”. Some express with some eye twitch/arm clench while others appear very absence in nature. After her Dec 1st seizure we were put on max dose of Keppra (luckily she’s had zero side effects with this drug…no anger issues at all). We were also told if she has more, we’ll need to transition to a new drug. Even through all of this, she has no lasting side effects - once she recovers, she has full memory, full speech, and no physical limitations. Some recoveries take seconds and others have taken up to 30 min or so.
We lasted 4 weeks at the max dose with no issue. It was a great holiday season and we thought we had found the right dose of the right AED to manage this.
Then she suffered her longest seizure yet - close to 8 minutes. After we passed that 5 minute threshold, we administered her rescue med rectally and while it brought her out of seizure, she slept for close to two hours afterwards.
And here we are today. Waiting on her prescription for her new med (lamotrigine) with the full knowledge of the titration schedule to protect against Stephen Johnson’s rash. Knowing the next 8 weeks, we’ll likely have more and won’t know if this new med will work until that dosage is reached.
That’s her story.
The reason for coming for this forum is that I’m over the “guess-and-check” nature of the treatment plans from neuro and want my daughter, specifically, to be considered! Maybe her story can trigger some solutions that others have found? Specific questions include:
- Has anyone had experience with epilepsy and Stickler’s and found a connection there? All docs have said no to date.
- Has anyone had any experience with glasses (incorrect prescriptions? External Pressure on the face? Etc) causing seizures?
- has anyone had experience seeking alternative treatment plans which work? Specifically thinking of seeing a DO. Any experiences (positive or negative) that we should consider?
I realize there is a lot of unknown in this space and everyone is just doing the best they can. But feeling as if we’ve crossed the threshold of stopping the pursuit of “root cause” in favor of just “symptom management”. I refuse to accept that at this time. Maybe I’ll be forced into that in the future, but not today.
Thanks in advance for anyone willing to reach out!