11.10.2017 SCN8A Mutation..."Diagnosis"?

It's been almost 48 hours since we got the call from Dr. Morita that she had Bennett's genetic testing results. He doesn't have the SCN1A mutation which is the gene associated with Dravet Syndrome. That's the syndrome I was most worried about and what pushed me to ask for testing in the first place. But he does have another mutation on his SCN8A gene. I knew a couple of families in the Dravet support group on Facebook who had a mutation on this gene, but I knew essentially nothing about it. At first I was relieved to hear his SCN1A gene was normal. But after two days of researching and connecting with other families of SCN8A mutants (is that terrible? haha), I almost wish he had Dravet instead of SCN8A. Dravet Syndrome has thousands of cases reported in the literature and a good amount of research being done about it. SCN8A has a total of 150 cases ever reported...ever...in the entire world. To give you a sense of how rare this "diagnosis" is, I'll show you what came up when I googled his specific mutation 5 minutes after getting the call:

That was pretty terrifying. Most parents get the same result when they look up their kids' SCN8A mutation too. There's just so little known and reported about it. I also tried searching Facebook for SCN8A parent support groups and found nothing--absolutely nothing. Luckily I was able to connect with a couple of the parents on the Dravet page who's children had SCN8A mutations and they told me that their support group was secret on Facebook so you had to be invited. They also pointed me to another couple of resources out there that have been developed in the last few years. The LAST FEW YEARS. That's how recent this research is on this mutation--like literally, Corinne (my sister who does genetics) looked up his mutation and it's not in any databases. It's never been reported as far as we can tell. Others on the SCN8A gene have been, but just not his exact missense substitution. Guess you can't say Bennett's not unique, right? One of a kind...

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So what does this mean? Well, we're lucky in a sense because we actually found what we assume is the cause for his seizures. Most causes for epilepsy are never figured out, so families just say "epilepsy with no discernable cause". So we actually have a root cause we can point to (most likely), which is rare, but unfortunately you almost don't want to be able to point to a "cause" because the prognosis for any of these recognized epilepsy syndromes is usually pretty bleak--that's why they get studied in the first place. And SCN8A is no exception, unfortunately.

There's a few websites out there that seem to hold all the information for families which I'll put here for anyone who's curious--and so I have a convenient place to keep a list of them.

The Cute Syndrome Foundation-The SCN8A mutation has been deemed "The Cute Syndrome" because all of the kids affected are just so cute, haha. So I guess that's what we'll start calling Bennett's epilepsy. That seems to fit him, right? ;) 

University of Arizona SCN8A Research-The main geneticist gathering and analyzing data is Dr. Hammer who is at the U of A. His own daughter had an SCN8A mutation (he was the first one to ever find it) and passed away from it a few years ago. He has committed to furthering the research and resources spent on finding good treatment options for other kids suffering from Cute Syndrome. It's actually pretty incredible what he's accomplished in a few short years. He has a registry of every documented case (that he can find or who finds him) and I think it's up to around 100 now! He collaborates with parents to collect the information we want to know--things like which meds make things worse for our kids, which seem to be the most effective, other comorbid disabilities or diagnoses, seizure types, mortality rates, developmental delays and milestones hit and missed, etc. He's also part of the parent support group on Facebook so he can answer questions directly for us.

Wishes for Elliot-There are a handful of websites, Facebook pages, and blogs out there following individual kids' experiences with Cute Syndrome. This was maybe not a great place for me to start looking for details because a lot of these kids are on the severe end of the spectrum and are completely dependent on others for feeding, walking, communicating, etc. along with continuing to have dangerous long seizures that land them in the hospital regularly. But I was so grateful to just find ANYONE who had ANY information about SCN8A that I couldn't stop reading their stories. These kids and families are true fighters, and it's pretty inspiring to read about their roller coaster ride that is Cute Syndrome and continue to feel their hope and strength through it all--even though it's painful to acknowledge that there's a possibility we could be embarking on the same journey.

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The first night after getting his "diagnosis" (I put quotes here because it's really not as straightforward as a diagnosis--there's a range of presentations in kids who have SCN8A mutations with lots of differences and a few similarities between cases) was the hardest for Dave and I. At this point we only had the info we'd found online to go off of and it was pretty devastating. The general sense I had so far was that everyone who had an SCN8A mutation was pathological in some way--regardless of the specific mutation, 80% of kids were entirely nonverbal, all of them had an intellectual disability of some sort, a majority had physical disabilities as well, and the risk of Sudden Death in Epilepsy (SUDEP) was higher in Cute Syndrome kids than other epilepsies, which meant that just this year, 9 kids passed away, and it seemed rare to live much past the teen years. Cute Syndrome kids' seizures tend to be what they call "status epilepticus" which means they are long enough that you have to go to the ER and administer meds to get them to stop--some lasting multiple hours on end or longer. Apparently a lot of the cases of Cute Syndrome have also reported heart arrhythmias associated with status seizures, which is the leading theory on why the SUDEP rate is higher than normal for our kids than other epilepsies. So that was all equally as terrifying, if not more so, as my google search coming up empty.  

I kept scouring the research for exceptions and cases where someone with the mutation actually developed typically or found seizure control or any positive outcome, but came up with nothing. Dave and I just held each other and cried after Bennett was asleep that night. We cried at the realization that he was never going to "grow out of" his seizures. We cried at the possibility of status seizures sending him to the hospital fighting for his life. We cried imagining losing his smile or his laugh again. We cried thinking about all the things he might never be able to do. We cried because there are no answers. We cried because we're terrified to be responsible for this little baby of ours when we have no idea how to help him. We cried at the thought of his next regression. I cried at the thought that he may never say "mama". We cried at the thought of losing him. We cried for his sister and all this might mean for her too. We cried that he'd been on a medicine for months that turned out to be known to make things drastically worse for kids with SCN8A mutations. We cried thinking about how to capture every second of every day while we still have him with us fully right now. And how terrifying the thought is that we may need these pictures and videos in the future just to see his smile or hear his laugh again. We just cried. We cried a lot. Well, I cried a lot, Dave cried a little. And we committed to enjoy every moment with him and celebrate the progress and not live life waiting for the other shoe to drop. But this feels so vulnerable to me. I feel like the harder I love him, the harder I'll fall if we ever do lose him. But I logically know I'll obviously regret it if I put up a wall right now. So for now, we'll make the choice to be excited about little victories and love Bennett every moment of every day--regardless of the impact this syndrome may be having on him. 

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Thankfully, the next day I was added to the parent support group on Facebook and after introducing ourselves and Bennett to the group a few other parents reached out to me because their kids' experience was similar to how Bennett's was in the beginning. There were a couple of those kids who were actually independently functioning, with only mild emotional disabilities, or just behind a couple years in school. But they could walk and talk and read and write and everything. One of them had gone 4 years seizure-free! 

As I searched through the past posts on the page I discovered that there are actually 4 families here in Utah with kids with Cute Syndrome! That was such a comfort to me, for some reason. Just to not feel so alone I think. And the more I read, the more I came across stories of kids who were on the mild end of the spectrum or got seizure control really early on who rarely have status seizures, or have recovered from regressions, continued to develop, enroll in public school (always with some assistance), and have friends and a close-to-typical life. This has been so hopeful for us. We're one of the few who got a diagnosis so early on in the progression of the epilepsy. We are now able to tailor Bennett's medications and treatment plans to the known aspects of Cute Syndrome. For example, we found out that Keppra makes almost every single kid worse if they have an SCN8A mutation. So we were right. Keppra was the cause of a lot of his issues these last few months. It makes me sick to think of how long he was on it, but it is honestly SO rare to have this reaction to it and none of our neurologists seem to have even heard of SCN8A so I don't know how they would have ever known. 

It seems like the kids who had relatively stable control of the seizures early on tend to develop pretty well and not suffer as extremely as the kids who still have seizures daily. I'm hopeful that since we've found some control early on already maybe it's a good sign that Bennett's seizures will be manageable. I am worried because they've definitely gotten longer than they used to be. That last two were about 10 minutes and he didn't come back to us for probably another 30. They used to be 5 minutes and he would come back right away before passing out to sleep. We can't just say his seizures are benign anymore, because Cute Syndrome kids are known to have status seizures that cause severe regressions or brain damage if left uncontrolled. So the priority moves from eliminating as many side effects as possible, to eliminating as many seizures as possible. This is good to know, because it means we will be more cautious when switching meds and we have more information when we have to make decisions about quality of life vs. seizure control for him. 

It feels strange knowing that our lives will never be the same, yet the world goes on as if nothing has changed. Dave was trying on ski boots the day we got the diagnosis and the employee said something to Bennett like, "Are you gonna be a little skiier someday?". And we both just sort of half-smiled and quietly said, "Yeah...maybe...", knowing that there's a chance he may never be able to ski. It's difficult to grapple with the reality of the extremely negative possibilities and the hope that maybe he'll be one of the lucky ones who continues to learn and develop on track as long as his seizures are controlled. They say the only thing predictable about epilepsy is that it's unpredictable--and Cute Syndrome seems to take that to the extreme with the ups and downs and the progress and regressions the kids go through with each batch of seizures or new meds. So all we can do is live in the moment, pay attention to how he's developing and make adjustments along the way as needed, and pray that somehow Heavenly Father carries us all through this as we adjust to our new normal.