Louise Tiranoff
Hi Shawn. It’s great to have the opportunity to talk with you about your work and it’s very direct relationship to your life! You are an entrepreneur and developer of information technology for delivery of medical services for two companies you have established. I bet that is a challenge all on its own!

Shawn Egan
Oh yes! No question. And for three years I was also the Chief Scientific Officer of FamilieSCN2A. I guess you could say I have first hand knowledge of children with SCN2A related disorders - my daughter Harper has SCN2A. 

Louise Tiranoff
How did that affect your perspective in your CSO role?  You  - as part of the leadership team - had the responsibility to help lead the FamilieSCN2A organization and establish their research priorities. 

Shawn Egan
Actually being the dad of a beautiful child such as Harper really taught me a lot about what is needed by these children and families. 

Left: Harper with her father, Shawn.
Right: Harper with her two sisters and new baby brother. 

Louise Tiranoff
You know, one of the classic DAYTool pieces that I love dearly is the Christmas footage you filmed of Harper and Mom finding presents in the Christmas stocking.

Shawn Egan
Yeah - Here is Harper, going through her Christmas stocking with her Mom last year- just as any child would - wanting to know - what’s in the stocking? Let me see it!! It’s hard for Harper to hold her head up. She has hypotonia  - in fact her mom’s arm is wrapped around her chest and she is holding Harper up while she is reaching into the stocking. I’m taking the video and providing a little commentary: 

Louise Tiranoff
I love the part when one of her sisters comes by to see what Harper is so excited about. 

"Harper at times has a lot of desire to drink independently but she requires our help every time. It's a source of frustration for her and she often makes angry raspberries when she is feeling limited."
 

Shawn Egan
But it’s been a long week. Harper is in the hospital

Louise Tiranoff
Oh - I’m sorry to hear that!

Shawn Egan
Yeah, been in there since Monday for about a week. Been a long week.We're still in the hospital.

Louise Tiranoff
What happened?

Shawn Egan 
Harper had an aspiration event on Monday at school, and they had to ambulance her to the hospital, and then she was in the ICU up until the last evening. So, so aspiration, then pneumonia, and then, and then she subsequently got the flu and para flu (Parainfluenza: Caused by human parainfluenza viruses (HPIVs), there are four main types (HPIV 1-4).  Not sure if she got them in the hospital, because her original respiratory screen came about negative, and then that seemed like we were getting through the aspiration stuff. And then her fever went through the roof. So it was like a subsequent fever, and then the seizures kicked in. So  went from like hypoxia to to  fever and seizures, and then still, still, still low oxygen.

Louise Tiranoff
I know that seizures can be a major symptom of SCN2A - did they give Harper an EEG in the hospital?

Shawn Egan
We didn't get any EEG, since the seizures were, you know, consistent with what we typically see, the acute, repetitive seizures in the context of infection, I think the biggest point of uncertainty we had, although we eventually got an answer. We had the aspiration and the hypoxemia , which got into the 60s and 70s (oxygen level) for a few hours, and then she spiked a fever after the fact. And the one other time we had aspiration, we had a similar, you know, series of events, and that fever ended up being due to dysautonomia. So it was like a central fever due to the trauma on the brain, not due to an infection. So when we spiked the 104 fever, that was our original thought. And the treatment regimen that you go down in order to treat that fever, or at least what we've done in the past is a drug called bromocriptine. So we tried that, and it, didn't touch the fever.

Louise Tiranoff
Were you worried that the bromocriptine didn’t work - didn’t touch the fever - didn’t respond to the symptoms.

Shawn Egan
So that now is kind of like a point of, you know, clinical uncertainty is very often a part of SCN2A. –you know, we thought that we knew roughly what we were dealing with, but now the drugs aren't responding and it ended up being because that fever was due to, you know, a an infection, and that drug doesn't work.

Louise Tiranoff
What did you do then?

Shawn Egan 
So, we figured it out. But I think that was, you know, when I think about our community, like those type of decision triages are sometimes life or death and unless you have that nuanced understanding of SCN2A  there's so much you could miss.  So that's one thing I’m  going through this now and thinking about, like, the implications of these type of situations on our community, like being able to study this and getting out, you know, you know, clinical documents on how to manage these type of situations, I think are so important just because, you know one or two wrong decisions and you know, you could add up in a really bad spot, you know.

Louise Tiranoff
I remember a child with Angelman (in a project we worked on)  had seizures in the hospital and her daughter was given Tegretol, frequently given to children having seizures. It made her worse. And in fact, some of the treatments, such as Tegretol, made Angelman syndrome seizures worse, so eventually they had to publish a warning, and all the families learned that, and they stayed away from Tegretol.

Shawn Egan  
Yeah, it's so hard. I was talking with a family the other night, and they were trying a new medication, and their opinion was that it was making things a little bit worse, like the child was manic and not sleeping and things that were new. But like, on paper, the drug should be really effective for their child. And they're like, you know, is this just kind of new medication, stuff that we have to keep working our way through, and that things will get better over time or or what?

Louise Tiranoff
Now everyone who has a child with Angelman knows that Tegretol may be a problem for these kids - and that was a big help. It was a good thing these parents were part of  a community, you know, able to pass the word along.

Shawn Egan
I think it's just like the biggest things are just kind of publishing, publishing the different situations, you know, and getting them out in the literature. So people can read it, digest it, and then at least consider it when they're seeing something similar, just because our kids don't, don't respond as a typical individual would. So your logic, triage, has to be different. 
 

Shawn Egan
It's just so complicated, you know, like with Harper, I want to say she's probably tried about maybe 11 different anti seizure meds, maybe more, and only one, I would say, was, like, clear and definitively obvious, that it was a substantial benefit. Every other one was kind of, like, murky, you know, like it could have been the moon. The moon was in retrograde, and that's why things were a little bit better that day, you know, or or worse, you know. And at, I don't know, it's just not, not the best situation.

But sometimes you find things out along the way: Harper has her own tub now and but we've given her two baths in there, and like, she lights up unlike anything I've ever seen, like she has so much fun in there, like she's splashing, she's laughing, and just, it's adorable. So maybe we can get her  in, like a swimsuit or something, and take a video, just to see how much joy is on her face, versus, kind of like typical, that's been really fun to see. 

"We have found better success managing acute seizure conditions by building in many home intervention protocols with her specialized neurologist, and keeping detailed lists of what has worked in the past and what makes things worse. My advice to parents and caregivers: Don’t be afraid to strongly communicate that information to each of your ER team members providing care. Also, for the unavoidable ER visits, engage your typical specialist before you go so they can prep your ER team for how to best manage that case."