Anyway, so Morita sent over another referral and this time we got it scheduled for the morning of the day my mom was scheduled to fly back home. We were going to have to go to an appointment in Draper, and then drive my mom to the airport, all with both kids. A little crazy, but we needed to get Bennett in ASAP since we'd put this off for so long.
The day before the scheduled appointment I got a call from a nurse at Primary Children's hospital up at the University of Utah. She told me that we should cancel our appointment with the doctor in Draper (he was also with Primary Children's, just had a closer practice) because there was a doctor who specifically worked with SCN8A and knew that our kids were at risk for arrhythmias and SUDEP (she actually said that!!! A cardio nurse! Not even our NEUROLOGISTS mention SUDEP to us!), so he really wanted us to be seen by him. I was so floored I was speechless on the phone, but I told her that tomorrow was the best day because my mom was leaving after that and I was only 2 weeks postpartum, etc. She was very kind and understanding and told me she would try to fit us in later that day, but if she couldn't, then she'd schedule us for the following week.
It turned out that the doctor had an emergency situation later that day so he couldn't fit us in, but we got scheduled for the 7th of March--1 week later. Leading up to the appointment I did my usual prep-work which usually includes printing out the "clinician's guide" from our SCN8A website, looking through the most relevant recent articles highlighting the risk of SUDEP for our kids based on mouse models of sodium channel mutations and their death rates due to heart arrhythmias, etc. In the back of my mind, though, I was hoping that for the first time during this whole process, I might actually be able to trust one of our doctors to suggest a treatment plan to us, rather than me having to bring the treatment plan to them and ask them to order the tests and procedures we wanted.
Side note: In prepping for the appointment, the most recent article published (literally just this month) about SCN8A was devastating to read. It was a case study following a young boy diagnosed at just a few months old with the SCN8A mutation, but treated with high doses of Keppra and Phenobarbital (possibly the WORST drugs for our kids), and the study had to end prematurely because he passed away suddenly at 26 months old from a 2 minute seizure that led to cardiac arrest, which led to his immediate death. A TWO MINUTE seizure...It takes 911 at least 8 minutes to get to our house. They would have been useless at that point. The boy actually had good seizure control at the time, too, so this was a total shock to his parents and the researchers. So so terrifying and heart-breaking to read, but it underlined the importance of why we needed to get Bennett evaluated immediately.
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When we got to our appointment with Dr. Tristani, I was fully expecting to have to fight for every little test to make sure Bennett was thoroughly assessed, but before we even saw the doctor, the nurse did a 10 second EKG, which was the first thing I knew we wanted done. And it just got better from there. Dr. Tristani was great. SO great. I was on cloud 9 after our appointment feeling like we finally had someone on our team who was taking this seriously and understood the situation fully.
As soon as he walked in the room, he explained his background to me. He is a researcher of children who die suddenly with no discernible cause. About a third of those kids have been labeled as SUDEP, and about half of those kids have been found to have had sodium channel mutations (like SCN8A), which leads him to believe that the heart is playing a bigger role in SUDEP than has previously been reported. So anyway, he's working with a team here of neurologists, cardiologists, and geneticists to figure out the best way to be proactive and try to help these kids before they die.
His bedside manner was great as well. I thought he struck a really nice balance of not fear-mongering, but also impressing upon us the fact that Bennett was at a very real risk of heart defects leading to sudden death if we don't pay attention to his heart. He told me that most kids with these issues die before the age of 2 in his study, and he suspects that their heart issues probably start a month or so before the sudden death, but went unnoticed by their doctors, so his hope is that if we can catch them early enough in Bennett we may be able to treat them proactively.
At one point he said to me, "Even if we can't help your son, monitoring him and gathering more data will be able to help more children in the future." That was a sobering moment for me. I had to fight back tears because having a professional finally validate what I know about SCN8A and why my fears are so strong made them feel more real for some reason. Also because I was less than a month postpartum so who knows what my hormones were doing to me. But really, I think that all this time I've had the thought in the back of my mind that "maybe I'm just being dramatic or focusing on the worst parts of this. Maybe this is super unlikely for Bennett. Maybe with good seizure control we'll be in the clear so it's not even worth worrying about." But hearing it all again from someone who has specifically been trying to get to the bottom of this and was able to tell me point blank that having a sodium channel mutation is not a good thing based on his numbers from the field validated that I have every right to be anxious about this and to try and do everything in my power to give Bennett the best chance at a longer life-span.
When I asked him "So what do we do? Are there actual interventions that can help if we start to see irregularities in his heart? No one seems to know how to help." I expected him to basically say what I've heard others say. i.e. "Not really, we just kind of know that they're there and he can take supplements and hope they help" or whatever. I was very pleasantly surprised to hear him passionately describe his plan for us. I could tell he was serious about both helping Bennett and furthering the research for kids with mutations like ours.
Not only did he want to get a baseline immediately by doing a 24 hour holter monitor starting that same day (another procedure I thought I'd have to fight to get done), but he told us about a device called a continuous loop recorder that I'd never heard of before. Apparently it's about the size of a USB drive and they implant it under the skin and it will record Bennett's heart activity 24/7 for up to 3 years until they need to replace it. 24/7 monitoring for 3 years!!! Without having to wear a holter monitor every day! I couldn't believe that was even a possibility--let alone that someone was actually willing to do it for us!
He wanted to be very clear with us that since the research in this area is so early and murky still that he had no idea if this would be the answer for us or not, but that it would at the very least give them better data to work with (hence the "helping kids in the future" comment). He told us that Bennett would literally be the first kid to ever have this procedure done because of epilepsy and the risk of SUDEP. Kids at risk for heart disease and serious arrhythmias will sometimes get the recorders implanted, but never an epileptic child just because of their epilepsy. Kids with seizures just don't get their hearts checked out very often because most neurologists are unaware of the connection to the heart at all.
I asked what the risks were to the recorder and they were extremely minimal as the device is literally just beneath the skin--no further, and he said "I don't see why in the world we wouldn't do this. Don't you want to know the minute something changes with his heart? Rather than every 3 months or once a year with just a 24 hour or 10 second monitoring? What are the odds we'd actually see what was happening for him in just snippets of data like that? I for one don't want to miss something and then in a few weeks find out that it's too late." I didn't know how to argue with that logic (or even why I'd want to...) so I emphatically said "Let's do it! I'm all for closer monitoring! #anxiousparent". So he said he'd talk to his team and make sure everyone agreed with the treatment plan and then hopefully we could schedule the procedure soon--even if the holter monitor results come back normal, which we expect them to at this point.
Oh, and in answer to my question about what we can do when we start to see the arrhythmias develop (This is how SCN8A works a lot of the time. Normal heart activity until one day it changes and progresses to arrhythmias, tachycardia, and bradycardia, etc.), he said we would try heart medicine first, but if that didn't work we move to a defibrillator implanted in his heart basically, and we'd be able to know if they were helping quickly because of the recorder. It was comforting to hear that someone believed there was actually something in our power to try and prevent SUDEP for Bennett and that they were willing to try it even though it's never been done before! Especially because both my dad and my sister have had ventricular tachycardia so Bennett is already at risk anyway for inheriting something like this.
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Needless to say, I'm thrilled with how the appointment went, and seriously SO grateful to his nurse for being proactive enough to switch us to his schedule even though we were already scheduled with someone else! I can't even believe there's a doctor in this valley who not only knows what SCN8A is, but is committed to helping our kids!! What a difference it made for me to walk in and actually feel like I could trust someone to take care of us without me having to pull out the articles for them to read first (I brought them, of course, just in case, haha). It just feels like a huge weight off my shoulders--I can't even explain it.
On the other hand, in the days since the appointment I have asked the parents of the other SCN8A kids for more details about their experience with cardio doctors, heart issues, pulse oximeters, etc. and it has become clear to me that a good number of the SCN8A angels who have passed away young actually died from cardiac arrest--not really from their seizures alone. That means it wasn't necessarily SUDEP in a lot of cases like Dr. Tristani suspects. It was cardiac arrest, which is an immediate death sentence if CPR and a defibrillator aren't administered within the first 4-6 minutes. And even if those interventions are administered, there is still a very high probability that they will be unable to be resuscitated.
This is obviously terrifying to me, but even more than that, I'm more frustrated than ever that we don't have a pulse oximeter at home. How in the world would we know if Bennett went into cardiac arrest if it happened during that night and he was face down, but silent because his heart stopped and he wasn't breathing?! The ONLY thing that would alert us would be something tracking his heart rate. And we'd need to be alerted immediately so we could administer CPR. The EMT's would take longer to get there than 4-6 minutes, so they would possibly be useless by the time they arrive. I can't believe our treatment team is still resistant to having a pulse ox at home in light of this information. It drives me crazy and feels reckless.
So naturally, in addition to getting trained in pediatric CPR and how to use a defibrillator ASAP (apparently lots of public places have defibrillators available? Who knew?), we are looking into options for a good pulse-ox for Bennett that we can just buy on our own, but because he is so young and basically the most restless sleeper in the world, the right options for him are over $1,000!! While money can't really be a consideration when it comes to potentially saving his life, of course, it's frustrating to me that these devices are so inaccessible to families when they literally could save our children's lives. Or at least they provide the best chance of that. It makes me even more grateful for all the foundations who have made it their mission to assist families with kids with special needs to help cover costs like this when our medical system leaves us high and dry. And grateful to generous donors who make it all possible. (i.e. Danny Did Foundation, Angel's Hands, Josh Provides, Chelsea Hutchison Foundation, etc.)
Rant: I really wish epilepsy had more awareness so there could be more funding (especially considering the fact that more kids die from epilepsy each year than women die from breast cancer...). It's unfortunate that all of these foundations and families are running on such low budgets which limits their ability to help, when so many other causes get so much publicity that they have excess amounts of money for research, treatment options, medicine developments, etc. It's not that I don't want other diseases to have help as well or that I think they're less important--I just wish epilepsy had more awareness or was more a more "popular" cause right now so we could increase our resources as well.
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