12/19/18: Official Autism Diagnosis.

Yesterday, we finally had our official Autism evaluation with Utah Behavior Services (a child psychologist) and very quickly received confirmation that Bennett does, in fact, have Autism Spectrum Disorder. It was an interesting experience to be in the room with the psychologist watching him test Bennett and seeing the deficiencies so clearly. I think we've just seen Bennett come such a long way that I forget how much he still doesn't do--like care if we're in the room or not, make eye contact, initiate engagement from us, smile easily, etc.

While it was difficult to watch him basically ignore the psychologist and me for an hour, despite repeated attempts to engage with him in play, it was also reassuring, in a way, because I have felt that he has struggled socially for a very long time and it was nice to have an expert validate that for me. It also helped me feel better about feeling like it takes so much work to engage Bennett and play with him because he actually requires a lot more work than most kids. It made me feel like a better mom, haha.

One of the first things the psych said to me when we walked in was that a lot of kids get an Autism diagnosis when they really shouldn't because it's more of just a language delay, a sensory processing issue, a general cognitive delay, etc. I think he was preparing me for not receiving a diagnosis despite the language issues. But within about 10 minutes he was quick to realize that I wasn't nearly as concerned about the language delay as the social impairment (as far as the reason we were there for the testing). As he watched Bennett playing in the room (before the official eval had even started), he was already pretty confident he would qualify for a diagnosis. The formal evaluation just further confirmed it.

One really nice thing that came out of the evaluation was that the psych was so profuse with his praise for Dave and I for how hard we've already worked with Bennett with early intervention. He was able to see that Bennett could perform a lot of socially appropriate behaviors because he had been "trained". These were things like pointing, signing, asking for help, looking at us when we called his name, sitting down when we asked him to, etc. Those things have taken months to achieve, and he could tell that Bennett didn't really understand why he needed to do them, but he did them anyway because we have worked so hard on them with him. He was really complimentary of our emotional engagement with Bennett's development already and said he was hopeful that we would continue to really help him a ton as he gets older.

So...what does this all mean? Basically, I wanted to make sure we had an official diagnosis (if he really did have autism, of course) because you qualify for additional services in the schools as well as different therapies insurance will be willing to cover better. He recommended ABA therapy, which was heavy.

ABA stands for Applied Behavior Analysis, and seems to be the gold standard for helping kids with autism develop more neurotypical social and adaptive behaviors. It's pretty similar to what we already do with Kids on the Move, but the difference is that it's 25-40 hours a week of in-home therapy with Bennett, where KOTM has been basically about an hour or two a week with different therapists. Obviously this is a massive life-change, and I'm a little overwhelmed about how to handle it.

Finishing my PhD is looking more and more impossible and I worry about Olivia getting the attention she needs, as well as Dave and I not cracking under all the stress. I know lots of families do this and people say it really helps, but I just feel nervous and I've never really understood how people do it, to be honest. I guess now I'll find out, right?

*************

As a side note: We are almost 5 months seizure free!! We've stayed at about 2.7-3.0 mL of Oxcarbazepine and it seems to be controlling things. The CBD oil has continue to help with his engagement and spaciness (although he's been spacing out more and more the last week or so), and we added and appetite med (Cyproheptadine), which helped a little with his eating in the beginning, but now might just be making him hangry while he's still not willing to eat anything besides macaroni and chocolate chip eggos, haha. Pediasure is life...

Here's a video of Bennett "reading" to Olivia...and saying "Balloon"! <3

We noticed massive improvements in his engagement with us when we started playing mellow classical music in the background at home a few weeks ago. It seems like it is much easier for him to make eye contact and stay focused with us than it used to be, which is awesome. Now if the music is off, he'll be harder to engage and we won't realize it until we remember we need to turn it on. It's kind of crazy how quickly it helps him, actually! 

As always, thanks for reading! 

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...

**************

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.

*************

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. 

**********

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. 

10.10.17 Developmental Delay

About a month ago now, it honestly feels like a year ago, but it was only a month ago (9.9.17) when we took Bennett to get some 9 month pictures done at a place around here called Camera Shy. It's an expedited process where they have a bunch of different props and backgrounds to choose from all in the same place and you get about an hour and a half with a photographer and can just choose what pictures you want to get. We hadn't done pics of Bennett since he was a newborn and he was finally able to sit on his own for longer than 2 seconds, so we figured we would get them done one Saturday.

When we got there the photographer really expected Bennett to be able to smile and giggle and respond in a much more interactive way than he was able to. We had to jump up and down with props and noises and practically scream to even really get him to look at us--let alone crack a tiny grin. I think we maybe got one full smile the entire session, but for the most part it was a dead-pan blank stare from Bennett.

I don't know if it was just because this was the first time someone had vocalized that they expected him to respond more than he naturally did, or if it was because this was the first time I'd been feeling semi-functional enough to engage with Bennett in this energetic of a way since early July, but I walked away from the session feeling pretty unsettled. We've always said that Bennett's a "serious" baby, he's just "taking everything in", you really have to "work for smiles" from him, etc. But everyone had reassured us that babies develop on different timelines and they all catch up eventually so it wasn't worth losing sleep over. Of course, this was all before his brain regularly spazzed out on him and he was put on anti-seizure meds meant to essentially shut down his brain.

At this point I went home and started researching the developmental milestones a little more vigorously than I had before and I finally concluded that Bennett was about 3 months behind on most of them--if not more on others. Even still, I know babies can have a range of about 6 months where they could hit the milestones late and be totally fine, so I still wasn't freaking out yet.

The freakout came a couple of days later when after I had done some of my own tests with Bennett (called his name to watch for his response, tried to engage him in interactive play, watched if he caught himself when he fell, watched his attempts at crawling more closely, etc.) and was flipping through old videos on my phone of him pre-seizures that I started to realize that we weren't just dealing with slowed development--he had actually regressed since the seizures started. I didn't remember that before his first seizure he was mimicking our sounds and facial expressions, smiling spontaneously and with just the tiniest stimulus, laughing regularly, and checking in with us while he was playing or exploring. I honestly thought that he had never tried to talk at all and rarely smiled or responded to us because that was all I could remember since the seizures started.

My heart broke when I watched the video of him on the bed of our hotel in Toronto in July (we were there for an MFT conference I was presenting at) smiling and giggling, copying my sounds, and trying to communicate so eagerly with me. How had I forgotten how my happy Bennett used to be? How had I blocked all of this out of my memory? I guess when you're living with your baby every day you just assume their progress will be forward, not backward, and since the regression was probably subtle over the months, it was easy to forget the skills he'd once had. But now it was becoming clear to me that something had happened with him when the seizures started and he was now regressing developmentally.

In the seizure-world, you learn fast that the answer to almost everything is "we don't know", because we basically don't know anything about why, how, or what happens when someone has a seizure or when, why, how, and what medications work to stop them. The one thing that had been made clear to us by the professionals, though, was that as long as his development remained on track and we weren't noticing any huge changes after the seizures they were probably benign and not causing damage. So to acknowledge that I thought he was not only delayed, but had actually regressed from where he'd been pre-seizures was terrifying, to say the least.

When there's a developmental delay and seizures together, the likelihood of there being a genetic cause like a specific seizure syndrome skyrockets (as opposed to this just being benign childhood epilepsy he'll grow out of). This is bad news because the seizure syndromes recognized right now range anywhere from being a mild lifelong inconvenience to growing out of the seizures after childhood, to promising a total lifespan of about 2 years. And of course there's no gauranteed way of knowing if your child has a specific syndrome or not and they probably won't fit the exact description for any of them, so you find the one that seems closest and go from there, essentially. There is genetic testing you can do which will highlight certain syndromes which are known to have something to do with certain gene mutations or deletions, but even these are only accurate about 80% of the time.

The other complicating factor is that anti-seizure meds are all basically renowned for causing developmental slowing or delays as well as grogginess, sleepiness, irritability, etc. So there's a possibility that Bennett's regression actually has more to do with the meds we put him on than the actual seizure activity he's had. But there's no way to know that unless we take him off the meds and see a difference--which is a risk because then he may start seizing regularly again, and for all we know, it has nothing to do with the meds and he's just got a seizure syndrome that causes developmental delays as well as seizures and this is just something we have to live with forever and can't really do anything about.

Either way, we started with Kids on the Move, which is the birth-3 year early intervention program here in Utah for kids with developmental delays, autism, sensory processing issues, etc. They came and did an assessment for free to see if Bennett qualified for services and he definitely did, so we've been seeing someone every week since we started and are about to set up his different therapies and classes to help with his development as much as we can. I'll write about the different steps of that process separately because I want to record it all while I still remember it.