The quarterback leads the offense, calls plays from the playbook, and directs the team. They have a deep understanding of the game, manage the clock, and make crucial split-second decisions to help the team score points and win.

Ben Beginning to Eat: "Hide the Celery Cup!"

Leah Schust Myers
Hi Louise, long time. It's nice to see you.

Louise Tiranoff
Shawn, wrote up a lot of really nice questions. Shawn, are you going to ask them?

Shawn Egan
Yep, but first, how is Ben doing?

Leah Schust Myers
So Ben goes to school with his nurse and a few weeks into the year, she came home and handed me a form to sign so he could get free lunches at school. And I said, “Kayla, why would I sign this form? He doesn't eat food, so why would I do this?” (Ben has a feeding tube placement, to provide liquid nutrition, fluids, and medicine.) And Kayla said, "he eats at school. He goes from person to person to take food off their tray. He shows extreme interest in all the trays, so we started getting him a tray of his own. He eats everything on the tray."

So I signed the form, and now Ben gets lunch every day at school.

Louise Tiranoff
How did you deal with food before that?

Leah Schust Myers
Well before that, we always made every meal and sat down with Ben and tried to feed him and it was difficult. Some days he might take a bite or two. Some days he wouldn't eat anything at all. Apparently at school, that's a very different scenario. And so when he started eating at school, I stepped up the game at home. I started feeding him a greater variety of things, including raw vegetables, which I never ever would have given him before because I thought they'd be a choking hazard. I didn't think he could chew them, but his teacher told me that she has to hide the celery cup from Ben, otherwise that's all he'll want. And so I now feed him carrots and celery and cucumbers and cherry tomatoes, and he devours them.

Louise Tiranoff
Well, I guess there's a lesson in that.

Leah Schust Myers
Yeah, never give up. Keep trying. I didn't really give up. I just didn’t expect him to eat much so that I wouldn’t get upset or disappointed. It was more to protect my own feelings. But I tried a little harder and he's now interested in food, especially if it's on my plate. He likes what's on other people's plates.

Ben's Neurologist: "Our neurologist looks at Ben, speaks to him, looks him in the eyes, and treats him like a person."

Shawn Egan
Can you describe a typical interaction with your clinician or care team and what you relay to them during these engagements?

Leah Schust Myers
So a typical engagement with our clinician… I'm going to pick Ben's neurologist as an example. So usually we do an in person appointment at least once a year, and then in between we might do virtual visits because it's about a two and a half hour drive for us each direction. When we're there, they come in and greet Ben and I. Then our neurologist looks at Ben, speaks to him, looks him in the eyes, and treats him like a person. I can tell that she's kind of examining him with her eyes and noticing different things as we talk and go through the rest of the appointment. Our appointments tend to be very long because I bring a list of questions, and I go through all of my questions and then usually come up with 17 more, because that's how my brain works, and I don't like to leave until I fully understand everything. And one thing I really love about her is that after explaining everything she asks “Do you have any questions?” I usually do, and then she answers them, and then she'll ask the same question again. “Do you  have any more questions?” And she doesn't seem annoyed or pushy about it. She genuinely seems to care about my questions.

Stepping Up as a Caregiver:  "I'm the quarterback for my son, and so that role I've taken very seriously. I am the communication hub between all of our doctors."

Shawn Egan
What we would like to zero in on are your responsibilities as the caregiver. How do you and your family track or learn about your loved one’s condition and how it changes over time?

Leah Schust Myers
That's a really good question. So I actually rely on other families and their experiences to kind of show me what our future is going to look like. And you know, I take that with a grain of salt, of course, because everyone is different, and every kid's trajectory is different, but it's helpful for me to follow families with kids that are a bit older, so I can kind of feel out what to expect and what to be on the lookout for in the future.

Shawn Egan
When you track the condition and collect this information, how do you bring that back to the clinician?

Leah Schust Myers
I've had many different ways over the last 14 years. In the beginning, I took meticulous notes, and I still have all of my notes from when he first started having seizures, where I wrote down the start and the stop time and every symptom that came with it. I even tracked his bowel movements and everything. Now my tracking tends to be more in my communications with his nurses. So when I give a report, which I often do in a text message, I have a written way of tracking it including: How many times did he pooped that day, if he napped, if it was an overall good day for him, if he was he agitated, if he had seizures, if he was shaky, etc. Then when I bring that information to the doctor, it depends on what we're dealing with during that time. Could it be a new seizure type? Are there any trends in the data?

Shawn Egan
How do you work with the different people involved in Ben's care to get the support you need and the support that he needs?

Leah Schust Myers
It's very difficult. And for the first several years that Ben was sick, I searched and searched for our quarterback in his care. I thought it was our pediatrician at first, and then I realized, no, it's not because she doesn't talk to our neurologist, it has to be someone that's talking to everybody. After a couple of years, I realized it was me. I'm the quarterback, and so that role I've taken very seriously. I am the communication hub between all of our doctors. I wish I didn't have to be. I wish there was something better. I try very hard to keep all of our care in between two different hospitals. One's a little bit more local, and then Children's Hospital of Philadelphia (CHOP). Those two electronic medical records (EMRs) talk to each other so they can go and look at the last notes. That's somewhat helpful, but mostly it's on me as the caregiver.

Communicating with Doctors: "Overall, when I push back, I do get them to listen."

Shawn Egan
Thank you Leah, I think that's a really interesting perspective of trying to make sure the EMR is aligned between the different clinicians to help coordinate care. This next bucket of questions are to understand where the patient and caregiver sit within the ecosystem of the clinic and understanding your role. Can you describe a time when you suggested or pushed back against a new resource or approach that your clinical care team recommended that they thought would be beneficial. Just trying to understand how that plays out.

Leah Schust Myers
I can explain a time when Ben was going through a type of epilepsy that presented only as electrical activity on an EEG. So there's very little that you could see clinically, except that his mood was really bad. He was very, very agitated. I could tell he was a different kid. But clinically, it wasn't like they could see seizures. When they did an EEG though, especially overnight, his EEG was so active that almost 95% of his sleep was in this seizure. And at first, they didn't want to treat it. They told me that Ben had genetic epilepsy and therefore he’s always going to have an abnormal EEG and that since they couldn't see much of a change in Ben, that it was good enough. Of course, I was not okay with that. I knew from my own research that this should be treated, and that it was having an effect on him. So I did have to push hard and go through a lot to get them to consider treatment. It was difficult to find a treatment that worked and there were a couple times where they were like, “haha, I told you it wasn't going to work,” And it made me feel like I was putting Ben through stuff that was unnecessary. That was really hard for me. It was a guilt that I did not need when I was just trying to get Ben to his best place. But overall, when I push back, I do tend to get them to listen.

Shawn Egan
I think that's a great example. There are some times when the patient or caregiver sees things that aren't apparent from the data at hand from the clinicians, and this creates points of friction within the relationship where you are both pushing for different things and it’s the responsibility of the caregiver to advocate much harder. Is that fair?

Leah Schust Myers
That's very fair.

Leah Schust Myers
I feel like they push their own perspective onto the situation. That's a challenge. Other challenges are that they might not be comfortable pushing forward in a treatment because they don't think that it's going to make much of a difference. But that's really not their decision. It's my decision. It should be my decision on how far we push, because I want to give Ben the very best possible life he can have, and if that means that we could still do better with his seizure control, then I want to. I want to do better, and I'll make that decision of when it's too much and when it's not. And I don't think they always give me that.

Shawn Egan
What challenges do you face when you're trying to understand or explain the rare condition your child experiences?

Leah Schust Myers
When I try to explain to my clinician, sometimes they don't see what I see. So they can watch the same exact video that I'm watching, but see something very different than what I'm seeing. For instance, Ben has these episodes where he looks terrified, but they can look at the video and say he doesn't show any signs of distress. And I know Ben much better. I know what Ben looks like when he's in distress, and I know what he looks like when he's scared.

Shawn Egan
Do you feel that the information you get from your care team helps you understand their perspective?

Leah Schust Myers
Perspective? The majority of doctors, no. I don't think they do a good job of explaining their perspective. My current neurologist does. She does a very good job, because she knows me. She's figured out what I need and is happy to give that to me. I need more detail. I need dirty, little, tiny details to understand it. Other people might not need that level of detail. But I want to be informed and able to push back and say “actually, you're wrong” and provide articles that prove my position if a doctor isn’t going into detail on their perspective and brushing us aside.

Shawn Egan
Sometimes you see something that you know is off, and the clinical team doesn’t see it. I don't think that's a unique scenario. Are there any tools or methodologies that you think could help in those types of interactions? Where something is weird and you don’t know what it is, and the clinician says that it's just a kid being a kid?

Creating Community and Learning Around SCN2A

Shawn Egan
With the complexity and urgency of SCN2A and rare diseases in general, how do you manage to get the right care for Ben at the right time?

Leah Schust Myers
I'm privileged. I am very lucky to have exposure and have the capacity to be able to do a lot of research and talk to a lot of families and know what to what to chase and know when to chase it. So I feel like my answer might be different from others. I'm on top of it, and it's a lot of work. It's a full time job to be on top of his care. But it's luck I can do that.

Shawn Egan
It's really hard and time consuming, and for those people that don't have the privilege, is it an insurmountable task? Can you put the lens on what it would be like for a non-privileged person. 

Leah Schust Myers
I see it in our group all the time, where families have gotten the SCN2A diagnosis, but they have no idea that seizures should be on their radar. And it's a shame that the doctor that diagnosed them and told them that they had this genetic condition never bothered to tell them what things they need to look out for. But it happens all the time with all the comorbidities, which is why we keep our group so active and talk about them, because the more exposure people have, the better they can be aware of things.

Louise Tiranoff
What do you mean when you say you keep the group active?

Leah Schust Myers
We keep our discussion page very active. So like, if Ben gets a new diagnosis, I go on there and I talk about it. “Ben was just diagnosed with osteoporosis. How many of you have have that diagnosis?” I've learned the same way from other families. They're like, “oh my gosh, my kid just got a diagnosis of scoliosis” and I'm like, “I had no idea that should be on my radar,” so I ask the doctor, “is his spine curved?” and they realize that it actually is. Comorbidities can arise which you didn't even know to ask about and if it goes on for too long, it may not be treatable down the line.

Shawn Egan 
A ton of really insightful elements in this conversation. Thank you so much, Leah, for taking the time.