Henry is child with SCN2A-related disorder. In this interview we hear from his mom, Amanda, about Henry's developing communication skills and potential absence seizures, and how she tracks his changes over time and deals with uncertainty about the future.

Communication

“He will make sure his voice is heard.”

 

Louise Tiranoff
Nice to see you. How are you doing?

Amanda Gale
Pretty well, thank you.

Louise Tiranoff
How’s Henry doing?

Amanda Gale
Henry's doing all right, he's pretty good. His communication is still sort of few and far between, but every now and again, something just clicks. His classroom is quite loud, and that's been bothering him. Most of the kids in his classroom are nonverbal, but they've got some behavioral issues. Henry is quite easy going, but their behavior is causing some stress for Henry, for sure, and he's actually using his talker to tell us that it's bothering him. He found a way to tell his teachers. He's been saying, “turn it down” or “keep it down.” You know, just for the volume, “take a deep breath,” you know, if someone's getting a little loud. It’s not something we usually tell Henry because he doesn’t tend to get upset or anxious or anything like that. And so we've never used “take a deep breath” or “keep it down” or phrases like that for him, but obviously teachers are using those sort of tools or methods for kids. It's just really amazing that he's able to navigate his talker to say those things. At the end of the day, I can look at his speech log and see that. It’s just incredible that, when given something dire, he will make sure his voice is heard.

Louise Tiranoff
Has he done that with other situations?

Amanda Gale
When Dom and Cora, my older two kids, they were fighting with Henry between them. Henry sits in the middle in the back seat of our car, and they were arguing, and things were starting to escalate, and he used his talker to say, “stop, stop, take a deep breath.“

Louise Tiranoff 
When you were driving that day, and you heard that happen, what did you think?

Amanda Gale
I said, “Did Henry say that?” And they're like, “yes,” and they both, both kids, just completely stopped what they were doing. So it's pretty incredible. You know, we could go days with him not using the talker at all and then something like that will happen.

Potential Absence Seizures

“10 seconds ago, he was just playing with his toys… or goofing around. 10 seconds later, he’ll look like he's just awakened from a really deep sleep.”

 

Louise Tiranoff
When we were last talking, you mentioned about seizures, and sometimes when you go to school, you thought something might be up, because there was some feedback from the teachers.

Amanda Gale
It's probably been going on for about eight months at this point. What looks to be absence seizures for Henry in which there have been multiple episodes that we have been taking data on. Henry will just stop. Sometimes he will lose tone. Sometimes he'll fall to the ground. He will have these eye movements where his eyes will sort of move up to the side, and he will just sort of zone out where you can't get his attention with a toy or another motivating object. Normally when we call Henry, we're able to get him to respond by calling his name, but in this instance, you can't get him to look at you. You can't snap him out of these episodes. And so I've been having the school and his technicians there take data on these episodes. They can happen three or four times a day, and then there might be three weeks where they won't happen at all. 

Louise Tiranoff
Is he just staring into space, or is he having a seizure? 

Amanda Gale
How do you describe a symptom of autism? Staring off into space and being a little quirky, right? Henry has all of those. You know, Henry stared off into space for years, ever since he was six months old. I've noticed this, but I've never really thought anything of it. Now recently, there are more of these episodes and the symptoms are bigger. For instance, I do see that loss of tone. And when I try and get him to sit up, it’s obvious that he's not just playing around. I thought originally that he's just being goofy, that he's just playing. But he actually can't get up. He really is tired. Why is he tired? It's not just because he's been on the playground. It's because something has happened in the last 10 seconds that has taken over his body. So for me as a mom, it feels terrible that it's obviously been going on a lot longer.

Louise Tiranoff
Have you done any taping of some of these moments?

Amanda Gale
I do have a few on camera, but for Henry, because they're so few and far between and happen so quickly, I would need a camera on him all day. Most of the footage that I have is from afterwards, and so the footage looks like he has just woken up. He could have just been playing but then you look at him 10 seconds later, and he looks like a sick child. A little flushed in the face, maybe feverish. Yet, 10 seconds ago, he was just playing with his toys, or rolling around on his bed, or really goofing around. Then 10 seconds later, he’ll look like he's just awakened from a really deep sleep.

Amanda Gale
His neurologist looked over all that data, and he thinks it looks like absence seizures from the presentation on the page.

Louise Tiranoff
Do you feel he really thinks they are absence seizures, or does he seem doubtful about it?

Amanda Gale
The neurologist knows that it's difficult to diagnose. I mean, you have to get an EEG to be able to see [to be sure it's a seizure]. He looked at the data on the page, and he felt like that they were absence seizures but then I also look at my son, and I'm like, “you know, they still are few and far, far between, and he's not regressing.” Should I put my child on a medication that could cause some GI issues or behavior issues when he is currently thriving. If you start on a medication, what's next? If he keeps having these episodes intermittently, then what's next? Do we just keep riding this wave and monitoring, and if things start to go south in a couple of years when puberty happens, address it then? Or if we do see regression, we keep medications in our back pocket. Right now he's not on anything, and we just have a rescue med in case. We have a seizure action plan just in case, and we're taking data. It's a funny position to be in.

Tracking Henry's Changes and Working With His School

“It's really important not only for Henry, but also for our society and for the rest of the kids to see that there is beauty in our differences. This involves making sure that those teachers are supported to make that happen.”

 

Louise Tiranoff
And how do you and your family track or learn about Henry’s condition and how it changes over time? Can you identify changes that they're going through as they happen.

Amanda Gale
I'm pretty old school, I use a spreadsheet that I can actually share with our school team and our school nurse.

Louise Tiranoff
So on your spreadsheet, what do you write when you see different things? 

Amanda Gale
Our spreadsheet is basically marked out by date with what the episode looked like, his temperature, who monitored him, and what the aftereffects were. So, for instance, if he had a bowel movement, nausea, headache, anything like that, with information about any kind of follow up, like a rescue med, along with if they needed to call home- that sort of thing. And the schools are able to actually add into that data sheet themselves and I'm alerted when an entry is put in. So I can check off when I've received the notification. If they don't see that I've checked something off, then they will call me.

Louise Tiranoff
That's very thorough.

You have a structure. How do you work with these different people that are involved in his care, and do you get the support that you need from them? How do you go about getting that? 

Amanda Gale
I try my best to work very collaboratively with everyone that's a part of Henry's life. It takes a village to raise a special needs kid, especially one that has a rare disease. So it's very easy to take the stance of being alone in this. “No one understands, my life is terrible and I'm all alone,” right? But if you do that, then you don't have the support network to help you navigate forward. And so it's in my best interest and my son's best interest, to allow people to help as much as possible. And to do that, I need to collaborate and make sure that team is strong and support them, in order for them to support me – making sure that they have all of the information that they need and the right information to make sure that they understand how to support Henry. A lot of our life does revolve around his schooling. I'm a big proponent of inclusivity, so I do want him to be included in the general classroom, as much as possible, without it obviously affecting his general ed teacher. She's got 20 other kids to worry about too. But I think that it's really important not only for Henry but also for our society and for the rest of the kids to see that there is beauty in our differences. But this also involves making sure that those teachers are supported to make that happen. It’s not just me telling them that they’re going to do this, but me saying, “how can we make this happen? And how can I support you in creating this environment? What can we do?”

The Importance of Case Managers

“A case manager can help offset costs to get you to out of state appointments or secure travel and lodging if you have to stay at a hospital that's three hours away.”

 

Amanda Gale
When Henry first got his diagnosis, our original neurologist didn't know what to do with an SCN2A diagnosis, and his words were literally “good luck.” 

And that was really surprising because, you know, he was one of the top neurologists in our state, and it blew my mind. Now, thankfully, we have a team that, for the most part, is quite supportive. But I also know how to advocate for my son, so I'm not sure how that would be for other families. Would they be the same? I hope that they would be as present and insightful and supportive, but I also come prepared to our appointments, and I work really hard to make sure that I'm on the team. Part of me has a feeling that, because I know how to advocate for Henry, we get the care that we need, but not all families might have that.

Louise Tiranoff
Good point.  For people who don't have that , what do you think could help, or what are they missing that could help them?

Amanda Gale
I always suggest that every family should have a case manager which most states have through their Medicaid system. Unfortunately, there's usually a huge wait list to have one. Getting on that wait list for a case manager is key to being able to access every service possible including foundations, grant programs, or even summer camps for kids with special needs. These programs help families be able to do the things that we need to do. A case manager can help offset costs to get you to out of state appointments or secure travel and lodging if you have to stay at a hospital that's three hours away.

Louise Tiranoff
That’s a big thing. 

Communicating About Henry's Diagnosis & Uncertainty About the Future

“Knowing all the “what if?”s, figuring out the science behind it, and not having all of the answers yet, that's the scary part.”

 

Louise Tiranoff
What challenges do you face when trying to explain to others, everyone from your family to professionals, about your son's rare disorder. Do you wish sometimes you had some additional resources to help in an explanation about it?

Amanda Gale
That's a really good question. Everyone has problems or a challenge, and everyone's challenge, no matter what it is, is just as important as someone else's, right? So for us, for our family, it's SCN2A but to another family, it could be leukemia or heart disease or Alzheimer's. Everyone's challenge or heartache is hard. For us, Henry is what we call “perfectly Henry.” He is happy.  But one thing that's really hard is that his disability is invisible. That's the hardest part for a lot of people to understand. It's invisible. So you could be out in public with a child that is absolutely beautiful. Henry is absolutely perfect with bright brown eyes and a gorgeous smile. I make sure he looks beautiful all the time.

A child that has an invisible disability though is really hard. How can you be parents that go out in public with an eight year old who bangs on the table at a restaurant or swipes all of the cutlery and glassware off the table? To other people, that would look like bad behavior. Or how can you let your child yell at the top of their lungs for a really, really long time, because they love the sound of it. Because Henry loves the sound of his voice. And we can't say “Henry be quiet.” He doesn’t understand inside voice. And then there are times where we can go out and be a, quote, unquote, “normal family,” whatever normal is. There's not really any such thing as normal. But you know, it's when you think about what I would love to be able to tell people, I'd love to be able to tell our friends what it's really like to not really know you know what our child is going to eat for the next few weeks, because right now, all he eats is peanut butter. What if my husband and I die in a plane crash? Who would look after our child? Or if something happens to us, our other children are responsible for him. He's going to need lifelong care for the rest of his life. My husband and I never thought that we would be thinking about outliving our own child. Will a seizure take his life? Will he wake up tomorrow or will he die in his sleep? These are things that go through my mind, knowing that the brain is capable of incredible things, and knowing that my child's brain is firing constantly. Knowing all the “what if?”s, figuring out the science behind it, and not having all of the answers yet, that's the scary part.

Louise Tiranoff
Given that you might want to work with someone and maybe give them a feeling for your son, would you just sit and talk with them or what would you use? Are there tools out there that are there for you to use?

Amanda Gale
I think that there are plenty of tools, I know, at least with our FamilieSCN2A foundation. So when we have new families coming in, they book time with me. I love to hear about their journey, where they are in their diagnosis, what their kids are like, how their diagnosis was, what they're going through, their kid’s profile, and what resources they need. And so from there, I'm able to point them in the right direction. My biggest thing is making sure that families have case managers.

Louise Tiranoff
Yeah, that makes sense, I can tell why that would be so important, because they would know what is going on in their area, what programs are offered. And of course, they should go to the annual SCN2A conference at the end of July, beginning of August.

Amanda, I so appreciate you taking your time to do this interview.