Ciitizen launches SCN8A Program: Helping Patients Control Their Medical Records and Drive Research Forward
Head over to the portal to sign up here:
Being a parent to an SCN8A warrior can be overwhelming. In the rare disease world, it seems like many families have to become experts on the diagnosis, so that they can train and teach their medical teams and professionals. If you’re lucky, you end up at a healthcare institution that has maybe 3 or 4 kids with the same diagnosis, and you may have to go through several medical institutions before you get there. With advancing technology, wouldn’t it be great if that clinical data could be compiled for you, stored for review at any time, and shared easily with your physicians?
Ciitizen has a free sherpa service to help patients do exactly that!
What is Ciitizen?
Ciitizen is a free service that helps patients get more out of their healthcare records, by giving you access to all of your child’s medical records in one easy place. The best part, they do all the work for you. It only takes 10 minutes to sign up and then the team at Ciitizen takes it from there. Once everything is compiled, you can pull up and see the medical records at any time and share them with whomever you choose.
However, they don’t stop there--while patients benefit immediately from this service--Ciitizen has created an efficient process to extract information from the medical records we’ve already collected and continue to collect in order to produce a regulatory-grade natural history study for our community.
A New Kind of Natural History Study
Ciitizen’s machine learning and expert team analyzes the digitized, de-identified patient data collected for all the SCN8A patients within the Ciitizen platform. Ciitizen employs a team of experts in HIPPA law and medical coding, genetic counselors, software developers, and scientists to apply world-standard terminologies (like SNOMED codes, RXNORM codes, etc) to SCN8A compiled data.
Traditional Natural Histories are essential tools for clinical trials, but they are prohibitively expensive, very time consuming, and they often require patients to resubmit to testing they have already undergone. Ciitizen makes it possible to quickly and inexpensively utilize existing medical information to create a retrospective natural history to help better understand our children. These findings are available to families and shared with academic researchers and consented non-profits at no cost. And patients do not need to travel to academic sites to take tests they have likely already received in the course of their treatment.
How This Supports Clinical Trials
To test a treatment, we need actual physical measures that show progress over a range of patients with different ages, genetic backgrounds, severities, and medications. Often companies developing treatments in rare diseases like SCN8A need to establish and fund lengthy natural history studies in order to prove efficacy. This is costly, and it is not easy on patients.
In order to keep Ciitizen free for patients, Ciitizen charges commercial entities a license fee. This fee is lower than if these commercial entities established their own Natural History Study. It's also faster since the Ciitizen data is ready to go but traditional studies will take at least a year. Even better, Ciitizen shares a percentage of any licensing fee back to the foundations working on the SCN8A community, so we can continue investing in our community.
How do I sign up?
The Ciitizen portal for SCN8A patients will open on April 1st, 2021. There will only be 50 spots open. Get ready to grab one of those 50 spots by making sure you have the following read to roll:
Head over to the portal to sign up here:
Everything in 2020 felt different, didn't it? This year The Cute Syndrome Foundation's 6th Annual Clinician, Researcher, and Family Gathering was no exception...as we moved forward with a fully virtual Gathering.
While we have always offered live streaming of the event for our families who cannot travel, this year we focused on creating a virtual gathering experience that increased the opportunities for interaction and a sense of connection. We certainly missed seeing one another in person. And we all we all know that the experience of being present together, of wrapping our arms around someone we've only ever known on Facebook, of playing with each other's children is entirely irreplaceable.
However, a virtual Gathering allowed for some important benefits to the wider community. There were increased opportunities for participation among families who might never have been able to travel for an event due to geographic, financial, or medical limitations. And, thanks to our other 2020 Virtual Programming for our families--including Social and Emotional Support, Clinical Trial Readiness Education, and Pre-Gathering Vitual Sessions--our families were especially prepared for not just listening, but engaging--offering observations, asking questions, and connecting--in a virtual platform.
However, the virtual can sometimes use a bit of help from hands-on experiences. In order to add to the Gathering experience, TCSF provided a “Conference in a Box” in order to add to the conference going experience...and also to provide attendees with physical reminders of the community we have built around SCN8A.
These boxes included SCN8A-family-made goods including face masks, decals, and a cocktail/mocktail list as well as notepads, pens, and a thermal mug. We also included our annual magnets, showing the faces of our children and featuring the faces of the children we have lost--reminders that are visibly present in some of the labs and offices that are most invested in our community.
We welcomed over 200 total Gathering attendees, including families, industry professionals, researchers, and clinicians. Participants represented 20 different countries around the world. We also saw incredible engagement within the platform chat during the meetings--both between professional attendees, continuing discussions post-presentations, as well as between family participants and professional attendees. We have been able to capture those conversations and, in some instances, provide further opportunities for family education, information sharing and/or professional connections.
Our goal for this Gathering was to see the virtual setting as an opportunity--not to create another webinar or another prerecorded powerpoint presentation, but to provide a human-scale, emotional, and living event experience. Ahead of the Gathering we collected videos from our families--which were woven throughout the event, to ensure that our children were never far from our minds. TCSF Founder and Director, Hillary Savoie kicked off the Gathering, setting the stage for this approach:
Using a virtual event hosting platform allowed conference attendees to receive information, ask questions, and interact with one another in a variety of ways, including informational sessions, interactive sessions, virtual expo booths, and a chat feature. Fun fact: a total of 1880 messages were sent throughout the course of the two-day Gathering!
Our sessions included SCN8A 101, a clinician roundtable, research roundtable, siblings panel, cocktail/social hour, separate discussion groups for moms and dads, and an interactive session on how to develop developmental forms that take into account the humanity and uniqueness of our children. As always, we concluded our event by taking some time to listen to the SCN8A families about how TCSF can continue to best meet the felt needs of the community.
Throughout this year’s Gathering, the SCN8A community was treated to videos that were created by SCN8A families, highlighting their children’s stories, struggles, accomplishments, and overall cuteness. We also featured two longer Parent Story videos. Check out Heather's story about her son Tate, here:
And Gaelle's Story about her son Milo:
The full public sessions will be available on our website soon! You can watch Michael Hammer, PhD's presentation on his SCN8A mouse models on our Gathering video page. All of the videos made by our families are there as well. As always, our families say it best:
Thank you for the glimmer of hope.
I love the collaborations happening. Best way to move forward.
Wonderful information and so thankful for everyone.
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 Founder/Director, Hillary Savoie, as she talks about the foundation and life as a special needs parent.
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.
Q: Where does the name “The Cute Syndrome” come from?
A: The term “The Cute Syndrome” came from a conversation with my friend Dana when Esmé was a newborn. I told Dana that the doctors had said that she likely had some kind of syndrome, and Dana responded, “yeah, she has a syndrome--she has the Cute syndrome. I mean, look at her!” As Esmé grew, and her disabilities became more and more visible, people would often ask me what she “had” or, more insensitively, what was “wrong” with her. I found the questions frustrating for all kinds of reasons--not the least of which was that those kinds of questions sometimes felt rude, invasive, and exhausting, especially since we still didn’t have a diagnosis, despite the best efforts of a number of doctors. So, when I could muster it, I would just smile and say, “Oh, she has the Cute syndrome, can’t you tell? Obviously she’s the cutest kid ever!”
When I started blogging about Esmé, I named the blog The Cute Syndrome. And when I started the foundation, it seemed the natural name. Over time, due to TCSF’s work in SCN8A, The Cute Syndrome has become a synonym for SCN8A in some circles. I found that difficult at first--because, as far as I was concerned, Esmé was the only person with the Cute syndrome. It was invented for her, but once I saw how meaningful the name was for the SCN8A community, I was just happy to know that we were able to share. We just occasionally remind people that Esmé is The Cute or The Original Cute!
Q: When and why did you decide to start a non profit for SCN8A?
A: Well, TCSF originally focused on PCDH19, the first mutation of Esmé’s that we were told about. However, Esmé did not clearly fit the phenotype of PCDH19, so we left the mission open to be able to support other communities. When Esmé’s SCN8A mutation was found in 2015, we found a community that seemed a whole lot like Esmé. They were facing very similar challenges and although we knew quite soon that Esmé’s SCN8A mutation was unlikely to be pathogenic, I had fallen in love with this community...and, just like that, we were family.
Q: How has your goals changed for the foundation over the years?
A: Honestly, when I started TCSF, my goals were quite simple: I wanted to share Esmé’s story--both the challenges and the beautiful moments--as a way to help raise awareness. I thought I might be able to raise a little bit of money to help support research. My initial goal was $10,000 to help support one grant. That year we raised nearly $64,000. By the end of this year we are projected to have raised $600,000 over the seven years we have been a foundation. We will have funded 10 grants for rare genetic epilepsy clinical and bench research and held seven meetings for clinicians, researchers, industry partners, and families.
Q: What is your greatest achievement for TCSF so far?
A: Well, it really isn’t one thing so much as it is an environment. There are two pieces to this:
First, we have set a standard for how we talk about our children. I believe that we can both want to help our children be healthier and safer through medical advances AND see them as absolutely perfect as they are. In fact, I believe that is the only way to help our children...because they are amazing, every single one of them, as they are. And our job is to help them have more chances to safely be all of what is extraordinary about them. Creating an environment for celebrating our children and what we know about them is absolutely key, in my opinion, for moving forward to help our children from a position of hope.
Additionally, we are, all of us, as caregivers of medically complex children, scientists, medical professionals, and advocates--we are part of the key to understanding how to advance treatments for our children. TCSF has always wanted to support families *at the table* with clinicians, researchers, and industry partners. We have never seen the model for advocacy of having meetings behind closed doors and reporting back to families--it has always been based on what families need and want to share about their experiences. This is most clear in our annual meeting when we have families tell their stories alongside medical and scientific professionals, while our children are in the room, making noise, playing, crying, and sometimes seizing...and without a doubt, every year, we hear again and again from these professionals that it is this part of the event that sticks with them--that drives them to continue their work and that provides insight they would not otherwise have.
Q: How do you balance being a medically complex parent and running an organization?
A: Not always well. I am tired a lot...and I know Esmé might hate the foundation sometimes. In fact, I have asked her to do a message for the upcoming Gathering and I am a bit afraid of what she might say. But I do tell her often that she is a very lucky girl--that she has had access to the best medical and therapeutic care we could ever hope for...and that just by being herself and letting me tell others about her, she is helping other children who might not be so lucky.
At the end of the day, though, I know I am not doing any of this to help Esmé--because none of it will. The science we fund, the drugs in the pipeline for SCN8A, they won’t be answers for her. Sometimes that is a challenge, I’ll admit. But at the end of the day, the SCN8A community is our family...and we all do what we can for our family.
Q: What are ways people can get involved?
A: There are several ways for you to get involved with the foundation. We cannot do what we do without funding, so we certainly welcome donations to TCSF. You can make a donation here: https://www.thecutesyndrome.com/donate.html.
We wouldn’t be able to operate without volunteers. There are a wide variety of projects and events throughout the year and it takes a lot of people to help these efforts run smoothly. If you are interested in volunteering for TCSF, you can reach out to Karen Varner at email@example.com.
Last but not least, you can help by spreading awareness. Follow us on Facebook, Instagram, and the blog. Share our stories. Tell others why SCN8A and TCSF are important to you. Encourage them to get involved! The more people know about us, the better we can reach the people who need us most!
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!
The Cute Sydnrome Foundation is thrilled to announce that starting on September 30th we will be holding a five-week Clinical Trial Readiness Educational series for the SCN8A community. Take a look at the topics we have planned below:
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.
We are grateful to our generous sponsors, including Neurocrine Biosciences and Zogenix, for helping to make this important series possible!
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.
Take a moment to watch Rachel's message to the SCN8A community:
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.
Joining this book club not only gives me a reason to take time for myself, but also an opportunity to be with others who are in the same situation and allows us to focus on something other than our daily lives.
Food and Drink Club and Hello Fresh Meal Kits
We did the hello fresh meal kits, no pictures because we made them and ate them right away! So delicious and such a nice change from our usual routine 😊
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.
For me the Food and drink event was all about sitting back and unwinding and spending time with everyone. Most important was the laughter. Right now our world seems to have lost its humor so for me the laughter helped to ease my stress!
2020 has been quite a year. I know we are all disappointed about not being able to all be together in person for our 6th Annual SCN8A Clinician, Researcher, and Family Gathering in December. However, with the help of John Schreiber, Manoj Patel, and TCSF's volunteer team, we are planning a virtual Gathering so that we can convene as a community to share our work and updates from the last year. The Gathering is tentatively scheduled for Dec 4.
The Gathering platform will require a slightly different approach. We will also be piloting a new approach for sharing research--we invite all of you to submit abstracts for consideration for a panel discussion at our main professionals and families event as well as in-platform poster sessions.
Abstract Submission Information:
1. We are requesting abstracts detailing your SCN8A-related research. This is a great opportunity to share your recent scientific work and observations on SCN8A with the SCN8A community.
2. Abstracts should be 300 words or less (yes, please feel free to use your AES abstracts!)
3. Submit to me at firstname.lastname@example.org by September 30th, 2020
Looking forward to "seeing" all of you in December!
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!
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!
This is a sad story. Perhaps it is two sad stories--stories that begin with the loss of two boys. But it is also a hopeful story. It is a loving story. And, I share it as a reminder of why TCSF prioritizes bringing our SCN8A families together at our Annual Gathering: We are not here for our individual experiences alone, because we are a community that has decided to love, to share, to mourn, and to fight...together.
-Hillary Savoie, PhD
Founder and Director, The Cute Syndrome Foundation
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.
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.
It never occurred to me that two years later, in Baltimore, I'd have the chance to wrap my arms around both Liz, in from California, and Roland, traveling from Germany, for the first time--and, together with the SCN8A community, help them mourn their sons, each in their own way.
But this year at our Fifth Annual Clinician, Researcher, and Family Gathering, that is exactly what happened.
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:
I feel I can say this quite safely, [Bruno] 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.
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.
Later, after the event Liz wrote to me to say thank you for the event, to explain what being there meant to her. With her permission, I include some of her words below:
I was reflecting this morning about my time here and realized how significant it was for me to grieve Will’s death surrounded specifically by other SCN8A parents. The memorial time when I was weeping and comforted by the embraces of Kenz, you, and Karen was something that I’ll carry with me forever. It just needed to happen as part of my process of grieving. So thank you, from the bottom of my heart.
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.
Roland Waegner's Speech at the 2019 TCSF Annual Gathering
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.
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.
When we heard about The Cute Syndrome Foundation's Annual Gathering, I thought, oh, that would be so neat, but there’s no way we could make that happen. Then we realized it was only 2 hours away, and my husband insisted we try to make it work if we could. I went in, not knowing what to expect. I felt unease and uncertainty, but, in hindsight, it was a great decision.
My time at the Gathering it left me wanting to create a guide for other SCN8A caregivers for when they attend their first Gathering. However, since my experience is unique, I thought I would reach out to my new-found friends, to inquire what other first-time Gathering parents experience. Here is what I learned:
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.
Written by Faith Titus, SCN8A Mom and first-time TCSF Gathering Attendee