Have you ever wondered what TCSF is? Where did it come from and who started it? With so many new faces in the community it was time to catch up with The Cute Syndrome’s, Hillary Savoie, as she talks about the foundation and life as a special needs parent. 
       -Heather Crowley
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Q: Can you tell me a little about yourself?
A: I’m Hillary Savoie. I live in upstate NY, near Albany. I’m the founder and director of The Cute Syndrome Foundation (TCSF). I’m also an occasional writer and I have a doctorate in Communication and Rhetoric. More importantly I am mom to Esmé--a super cute, funny, smart nearly-ten-year-old girl who has multiple genetic mutations (in order of discovery): PCDH19, SCN8A, TBL1XR1, and MAP3K7.

​Last year Luke Pitino, who was diagnosed with SCN8A epilepsy in his first year of life, and his family raised $71,000 for the Epilepsy Foundation of Metropolitan New York (EFMNY) and The Cute Syndrome Foundation (TCSF) during the Annual Walk to End Epilepsy! This effort established a fantastic and on-going fundraising partnership between EFMNY and TCSF.
 
This year Luke and the Pitino family are at it again!

Since Luke’s diagnosis, his family has worked diligently to spread awareness and fundraise for The Cute Syndrome Foundation and the SCN8A community. His father, Ryan, joined our board of directors in 2019.

Like last year, half of the money raised by Luke’s Walk to End Epilpesy will be donated by the Epilepsy Foundation of Metropolitan New York to The Cute Syndrome Foundation to support SCN8A awareness and research. 

​This year, since the Walk will be held virtually, we can all join Luke’s team, from far and wide, to support Luke, EFMNY, and The Cute Syndrome Foundation. Can you help them reach their goal of $50,000 in support of EFMNY and TCSF? 
 
Support the team below between now and October 18th to become an #SCN8Achampion and join Luke and TCSF  on the Annual Walk to End Epilepsy!

TCSF believes that one of the most important things we can do to help prepare our community for any and all clinical trials focused on the SCN8A community is to help ensure that our families are informed on how clinical trials work—as well as on general drug development, the ethics of patient data collection, and the variety of potential future therapies. This Clinical Trial Readiness Series will bring together panels of industry professionals, clinician researchers, and other rare epilepsy advocates to discuss these important details. 

In our first series event we welcome writer, advocate, photographer, and mother Rachel Callender to lead a workshop focused on the language we use to talk about our children. In this workshop we will connect around the idea that we need to be able to both talk about our children in terminology that allows us to help them (the language of science, medicine, development), but also in ways that allows us to celebrate them for exactly the extraordinary people they are, right at this moment. As we look with hope toward new therapies in our future, we also need to pause and remember the beauty at the center of that hope: Our children.

In June The Cute Syndrome Foundation received a Rising Tides Grant from Child Neurology Foundation to lift a social and emotional support program off the ground. This program has included zoom yoga and family martial arts classes, food and drink discussion group, a book club and access to meal kits, mindfulness app subscriptions, and gift cards for yoga mats, books, etc. We knew this programming would be meaningful. However, as we dove into it, we began to realize just how much our community needed this—to feel supported, engaged, and connected. Also, simply, to have a bit of fun in the midst of everything. 

We are so grateful to Child Neurology Foundation for not only making this program possible, but doing so in a way that allowed us to quickly and flexibly respond to our community’s needs in real time. Here are two examples of how we were able to do use the funding, and what that gave the community.

​The book club has been one of our most popular groups. Most of us in the group had never been in a book club, because the times in our life when our friends were doing such things, we were in and out of hospitals, learning about feeding tubes, and trying to keep our children alive. We are a group of people who were pretty sure book clubs weren’t for us. 

However, this book club is, absolutely for us. 

And, thanks to the CNF funding, we’ve been able to make participation as easy as possible by providing gift cards to the book club members for the books we are reading, at least through October. 

Being in these book club conversations has been really touching. We all love that we can join together to do something “normal” where we make the rules. There is no pressure. Some people get behind; it doesn’t matter. We talk about what we want to talk about. And we do all of this, even as one new mom has to step into the background for a minute to help her child who is desating, or another mom administers medications via feeding tube without missing a beat, or another mom who rarely sleeps shares that she feels guilty for the only break she’s taking that day. 

Also, a story is never just a story—stories are also a means to better understand the world, other people, and yourself. So, we talk not just about the book we are reading, but about what it makes us think about. We have participants in the group from among our longest standing community members as well as some of our newest community members—so we are able to connect across experiences, offer advice, share information. While we are nearing the end of our grant funding, we have committed to continuing to meet as a club.

I have been working with and organizing this community for years—leading activities, talking with parents. And this group has consistently had some of the most real, compassionate, and helpful conversations of which I’ve ever been a part.  I find myself watching the faces of moms who literally have been through the most unimaginable things with their children—medivac flights, DNRs, regularly resuscitating their own children—just being women, together, supporting each other, without judgement. And it was one of the most powerful experiences I’ve ever had within this community or any other. It was as if we all needed to let ourselves just be moms with a beautiful book, in order to understand that we could open up in this way. 

​We have offered two food-related programs as part of the CNF Rising Tides Grant. 

The first was to provide access to meal kits for families, so that they could just take a night off from meal planning and have fun prepping easy, interesting meals as a family. At first it seemed like the families were hesitant to sign up for the meal kits—it turned out that some didn’t want to take away access to people who might need it more. The team found this so touching—that as we were trying to take care of the community, they were trying to look out for each other. Others didn’t participate at first because they couldn’t believe that it was a simple as just saying yes. And then, it was a great joy to see those same families sharing photos of their food, explaining what the made, and what it meant to them. This struck us, as we know how important our perception of social support is to helping protect individuals from risks of PTSD, which is a risk within caregiver communities like ours. Showing that TCSF and CNF are here to offer care is part of demonstrating social support networks…and it can make a meal feel like so much more than just a meal, but rather a symbol that we are all in this together. 

Our second program was a food and drink discussion group that met weekly to share recipes, talk about our favorite drinks, and do cooking demonstrations. We also spent a good amount of time just talking, laughing, and telling stories. One of our most entertaining sessions was with a mother in Italy, Cinzia, who demonstrated how to make Spaghetti all'amatriciana. We all had so much fun watching her cook, learning about bucatini pasta, which is spaghetti with a hole in it, which, according to Cinzia, exists in order to allow the for the sensation of “wind” in your mouth as you eat. 

The Cute Syndrome Foundation has received a fantastic impact report from Dr. John Schreiber at Children's National on his clinical research which we funded in 2019. This research focused on how to improve access to quality care for individuals with SCN8A. TCSF invests in scientific (both bench and clinical) research to better understand SCN8A generally--but, of course, that information is only as good as it's actual impact on the lives of our loved ones--better treatments, better outcomes, better quality of life!

When we decided to fund this grant to Dr. Schreiber, it came from a place of frustration that we had known some important basic information about best practices for pharmaceutical treatment for individuals with SCN8A, but that information was not always making its way to the clinicians who treat our children. So, we funded Dr. Schreiber's work to better understand why that was the case--and to advise on what could be done to change this, and quickly! 
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Here is the full report of his results. We are grateful for Dr. Schreiber's dedication to our SCN8A community and that we are able to fund this kind of import research!

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A little over two years ago, I used my opening remarks at the 3rd Annual SCN8A Clinician, Researcher, and Family Gathering in Washington DC to talk about a little boy named Bruno. Bruno's father, Roland, was a member of our SCN8A Support Group on Facebook, and I had asked his permission to talk about Bruno at the event because I just couldn't stop thinking about him. Bruno was a little boy whose story, as his father says, appeared not long before to be a positive example of life with SCN8A--Bruno was developing well, he was medically stable, and he was so very happy. And then, one night, in July 2017, the unthinkable happened: Bruno died in his sleep. 
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He would have turned seven in a few short weeks.

As is, unfortunately, the reality in our SCN8A community, Bruno's death wasn't the only loss we suffered that year, or even that month. At that same Gathering in DC, we heard via a pre-recorded video from another family who lost their son with SCN8A, Will. Will also died in July, as he slept.

Will was also a sweet, happy seven-year-old boy. In their video Will's family talked about Will and about SUDEP (Sudden Unexplained Death in Epilepsy). I can still clearly remember looking at Will's mother, Liz, as she spoke and wondering if I would have been brave enough to share in this way, were I in her shoes. 

As the recipient of one of our Mandy Harris Memorial Travel Grants, Roland was invited to speak at our Friday evening reception. He stood up to share some words about Bruno's life--and brought the entire room along on a journey with him. When Roland began speaking, many of us still had tears in our eyes--because the memorial moments for all of our SCN8A Angels directly preceded Roland's talk. However, listening to Roland talk about Bruno, there was a startling amount of joy to be had between tears. 

What Roland had to say about his son, which I include in its full form below, took ahold of my heart and the hearts of everyone else in the room. As Roland spoke, I sat next to Will's mom, Liz. I held on to her, as we cried, but, also, I found myself unable to stop smiling at the way in which Roland's words managed to draw a picture of his son before our eyes...at how, in remembering him to us in that room, Roland was allowing us to help keep a part of Bruno alive. 

​Toward the end of his speech Roland said something that has been playing in my head ever since:

That's not his problem, it's our problem. We have to deal with it.

I realized only later, why this spoke to me so deeply. It is because it is precisely right. We have to deal with it. It is our problem.

And this is exactly why TCSF exists. It is exactly why that event continues to exist, and it is exactly the reason those of us in that room where there--because seven years of life is too short.

That is our problem to try to solve for our children, and in honor of our children. 

We grieve together. And this is such an important thing to do. It is meaningful in so many ways that are hard to articulate, but easy to feel. ​

And we also get to work, together--even when it is hard, even when the work isn't to benefit our own children, but to honor them. Both Liz and Roland sat on the first meeting of the foundation's Parent Advisory Board to help guide us as a foundation in how to address the needs of parents on a host of issues. And their insights included ways to provide support to bereaved parents, to develop monitors that work better, to help de-stigmatize end-of-life discussions, as well as helping keep the memory alive of Bruno, Will, and all of the children we've lost.

This is our work, our grief. Our problem. 

First of all, I’d like to thank Karen and Hillary for setting us up so nicely with the
Angels slideshow, to make sure we’re all extra emotional, but that’s just the
way it is.

First of all, I’m really happy and grateful and excited to be here and meet all of
you, in person as opposed to 3 by 5 centimeter Facebook profile picture. And
before I continue I’d like to warn you or request that you forgive me, I’m guaranteed to choke up at some point, have to catch my breath, wipe my eyes, and all the rest of it, just so you’re ready. This is going to happen, it has happened already.
​
OK, I’m just going to give you a quick run-down of what many of you probably
know, but many probably do not know. Bruno’s story, I’ll keep it short and
sweet. Sweet is a good connection.

We only got the diagnosis “SCN8A” in January or February 2015, after we’d
been trying to track down another suspect. As it turned out, the other suspect
was innocent. Something showed up on an MRI scan, which then disappeared,
but the seizures didn’t disappear, so we knew we were on the wrong track. As
it turned out, the medication he’d been given anyway happened to be a
sodium channel blocker, so we got lucky, in a sense. Then I discovered this

group, and I thought, “Yeah, one of these days I’ll, you know, connect up and
share my story,or Bruno’s story, a bit more to the point, share Bruno’s
story as a positive, optimistic outlook, because I’d seen so many stories and
family tragedies of difficult lives. I thought, maybe a spot of positivity wouldn’t
hurt, because Bruno actually was at the extremely healthy end of the
spectrum: he was walking, he was talking, he had the odd ataxia and he wasn’t
completely coherent. But he was doing well, he was steadily progressing, there
was no downturn just yet, so I thought maybe this would be a good story to
add to the collection, to the anthology. 

And then, as it happens, before I got down to actually doing it, SUDEP came first. So, then I had no choice but to change the ending of the story. It was going to be a Happy-End story, but now it’s just an “End” story, with plenty of “happy” taking place before the end. He
was one of the happiest people I’ve met, and he loved sharing his happiness
with everyone. If he walked in here now, you’d all be grinning up to your ears.
Guaranteed.

I’ve been made to feel very, very welcome by this group when I decided to join and to participate and to get to know at least the thumbnails of everybody. And I always repeat myself, it’s just so nice to really meet you all in the flesh and 3D and in life-size, as opposed to, you know, “click”.

His neurologist, who took care of Bruno from the very beginning, which is from when it all started, age six or seven weeks, right up until the funeral, he was a great guy, very very involved, and I think he went to extra lengths to try and figure out a solution, maybe the cause, but mainly a solution, in the first step, and he said something to us which was very memorable. He was at the funeral and he came up to us and his eyes were all puffed up, he’d been crying like a baby, and this was a full-on professional, he came up to us with these very puffy eyes and said, “I’d like to have a meeting with you as soon as possible, this has been much on my mind ever since I got the terrible news.” And in this meeting, he said to us: “One question has been bothering me, and I’m sure it’s been bothering you too: Could this have been prevented?” And he said, there’s a short answer and a long answer. The short answer is “Yes.” The long answer is “Yes. BUT.” And then came this excessively long “but”. Essentially, what he said is, we could have probably got all the various devices and gadgets and mattresses and wristbands and oxy-pulse-oxy… everything! But then, what would have changed? Well, something crucial would have changed: Bruno would have been patient first and child second. And the way we did it, without all this high-tech, he managed to be child first by a long distance […] Then he said, which was even more impressive, “if it had been my son, I would have done it exactly the same.” And that’s a very comforting thought.

Now, Bruno was doing really, really well with the meds that he was taking and with the team surrounding him, and I don’t mean just the family, but all his various therapists and his pre-school team, and just everybody, but death, especially SUDEP has this nasty habit of just creeping up on you and coming out of nowhere. So, by making sure, […] or at least by trying to make sure that every day was the best day of his life, I feel I can say this quite safely, he really had a fantastic life. The fact that seven years, or even a little less than seven years is way too short – that’s not his problem, it’s our problem. We have to deal with it. From his perspective, he was happy every single day of his life, and that’s something we can all aspire to. I hope I can say that, you know, when my time comes, that I was happy every single day of my life. I doubt it.

So basically, all of you here are a big group of heroes: parents, clinicians, researchers, everybody who is  involved in making sure that everybody’s life can be the best day… […] that everybody here can say that every day is the best day of everybody’s life. Keep it up.
The togetherness… All of us together, never give up hope, every day, start the next day, keep on hoping, and if need be even further. It works, you’re doing great. Thank you very much.

1. There are both joys and challenges to bringing your kiddos along. We brought our kiddos along (our typically developing daughter, and Shirley Rose, our SCN8A warrior). We also had my parents along to help us care for the girls so we could focus when we needed to. I think we got the best of both worlds. But not everyone has that luxury. So know that whatever you choose, it will be GREAT. It’s helpful to able to focus and go to the late-night outings without worrying about meds or bedtime. Still, there is a joy in having these kiddos all together. One momma, Nora Lyons, said, “Blake got so much out of meeting people who ‘get it’ right off the bat.” 

2. If things go wrong, you are surrounded by people who understand and can help. Traveling with a medically complex child is intimidating. It’s one of the things that held me back from wanting to go. But I found comfort in knowing that not only was I surrounded by other parents who also live this life every single day, but I’m surrounded by clinicians who can help if something goes wrong. Jenny McGill Weaver, a momma at the event, shares her experience “…my youngest had a seizure during one of the seminars. My husband was outside taking a work phone call, so I hurried up and got her emergency meds out of my bag, and my husband pushed her stroller down the hallway to the bathroom, not realizing I was being followed. When I got into the bathroom, there were two other ladies from the conference who came into the bathroom to ask if I needed help and just stood there with me while I ministered meds and checked on her and got her levels back up. There was no judgment. There was no looking at me strangely. It was all very routine for us. To have that support and someone there to say, “It’s okay, we’ve got your back. It’s okay to be scared. It’s okay to run down the hallway.” Just knowing we have that support was a blessing to me that day.” 

3. You will be up late! One of the things we had to think strategically about was the fact that many of the sessions were after 6pm. So if you plan to bring your child(ren) along, account for bedtimes, and tag team with your spouse, or bring a grandparent along. And drink some coffee. We lucked out by staying in the same time zone, but others were coming from all over the world and were exhausted. 

4. You don’t have to remember everything. At first, I had this sense of panic. I felt like I should be writing everything down so I could remember all the details. But, the volunteers at TCSF are fantastic and make sure to record everything. They make it available to the families after the event, so we have the opportunity to listen to it again later. So don’t fret. You can go back and listen again.

5. You belong. Let me say that again: You belong. I had some serious imposter syndrome when I first arrived. I felt out of place. I didn’t know anyone. I have a reasonably introverted temperament, so meeting new people is quite intimidating to me. But within an hour, it hit me; these people get it. They understand the struggles, they understand the joys. They GET IT. And never have I felt so known in this journey with Shirley as I did hearing the struggles and celebrations of other SCN8A families. Some of you may feel this sense of belonging right away, but for others like me, it may take you a while to warm up. But regardless of your temperament, you will know that you belong before the weekend is over.

6. You will be overwhelmed at moments. And it’s okay! There is a lot of scientific talks, and unless you have a framework for science, some of it will be very confusing. Take some time to talk with your neurologist before coming about the science of the variant SCN8A, read up on the way sodium channels work, or just come ready to learn and ask lots of questions. Depending on your personality, you may like to feel prepared, or you may want to come in open-minded and learn as you go. Just know that it’s okay if you don’t fully understand some things. One thing that is helpful to know is your child’s specific variant. 

7. Some of the best moments won’t happen during a session. Roland Waegner says it well when he says, “Bring spare time. And if you’re bringing your kids, make sure there’s someone else with you to look after them, because the socializing in between events or at the bar is where I felt the real magic happened. Parents (veterans and first-timers), clinicians, pharma people are all completely eye-level peers once removed from the lecturer-audience context, and you can feel the tremendous energy and dedication on everybody’s part.” Some of the best conversations and connections we had were not during a session but in the in-between times. Talking with families who have been walking this journey for years, hearing how far things have come, asking how they cope with some of the struggles, it was all so encouraging to my soul.

8. You will leave part of a beautiful community. During this event, you will realize that you have never felt so understood in your journey with your child. During one of the sessions, a clinician asked how many parents felt their kids were sensitive to sounds or easily startled, nearly every hand went up. He asked how many parents felt their child had a high threshold for pain, again many hands went up. These are things that the researchers can’t explain with science(yet), but we parents are living it firsthand. These parents, clinicians, and researchers are a powerful community. A community who is a driving force to gather more understanding and better treatment, so that we can give these kids their best shot, despite a really crappy diagnosis. You may start the gathering uneasy, but you will leave feeling part of a family. 

At the two-day event, TCSF also offers a series of learning sessions for the families in attendance. Historically, these sessions revolve around practical issues pertaining to life with SCN8A. However, since TCSF is so invested in creating lines of communication between the medical professionals and the family community, last year we began an SCN8A Science Education session--led by a neuroscience research assistant . This year we held it in the hours prior to our main event, in order to help the families with a pre-conference crash course on what they needed to know to follow along during the medical professional presentations. 

In 70 person group of families we learned about action potentials and neuronal excitability--and then had the opportunity to ask any questions we might have. The level of discussion was really impressive. And all of that 101 session, together with a number of other resources from the event--including a key word finder, presentation slides, information on the speakers, and, soon, videos of the presentations--are all available on our family-portal. ​

A family-fun dinner outing rounded out the end of our event. Every detail was planned perfectly for our night out on the town by TCSF leadership team member and volunteer Karen Varner. We enjoyed a brisk walk in downtown Baltimore and gathered at a local restaurant. Our meals were pre-ordered in advance to expedite eating in such a large group. Music and laughter filled the air while we drank and enjoyed a meal together. It was a nice time to relax, unwind and chat with one another. ​