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What you told us at the SIFM

Hello Families,

Thank you for entrusting us and joining us on this journey. We hope that our combined efforts are making things better for our children.  As promised, I want to share key themes that we learned from the community and researchers.  The raw materials from our family break out session, Menti survey results, and more detail on the output from the researcher discussion on day 1 is also shared here.

Along with the input from our researchers at the SIFM, your perspective will shape the direction of the STXBP1 Foundation. From here, the STXBP1 Foundation will consult with our Advisory Board to determine which types of initiatives we will fund and how we will do this.  This process will be announced and will be transparent to the community.

In closing, we look forward to continuing our collaborations with both the research community and our families.  In the coming months we will be preparing for our STXBP1 3rd annual 5K and also AES. There are also opportunities for involvement and hope that we will see many of you there.

Key Themes – Families (Menti Survey & Breakout Sessions):

  • Communication and Cognition are biggest things families would improve (graph)
  • Gene therapy/ MicroRNA and drug repurposing (including natural products) are areas of greatest interest for long-term research
  • Caregivers will know if a therapy is working based on: Reduced seizures, improved communication, cognition, improvement in motor skills, and by reaching milestones
  • 78% of respondents would definitely participate in a Natural History Study
  • 81% of respondents see no hurdles to joining the Simons registry. 
  • When asked about investment in research in the next 1-5 years, the top choices were gene therapy (35%), drug repurposing (23%), & natural history study (15%). The remaining 27% were split among developing new drugs, animal models, & cell-lines (graph)
  • 96% of respondents would potentially consider gene therapy
  • All respondents were willing to engage in some amount travel to a study site and 96% are willing to be hospitalized for at least 1 day
  • The majority of the community choses to invest in research regardless of direct benefit to their child 
  • The majority of respondents (56%) would consider a phase 3 or would use an already marketed medication 
  • When asked to rate mediations they would give, a medication that: “makes nothing worse”, or “if it works on some symptoms” was rated most highly.
  • The community has a low tolerance for risk; 71% would consider only a medication with a low number of minor side-effects

Key Themes – Researchers:

  • A well-designed, FDA-compliant, prospective natural history study is needed
    •  Must know what to track, what therapies to give, and if there are any degenerative aspects of this disorder (outside of epilepsy)
    • Funding options are limited especially without preliminary data
    • It is important to know what happens in adults
  • An understanding what happens when we overexpress: (ie, make too much) STXBP1 in a variety of cell types & animals is needed
  • Animal results vary from lab to lab and a lack of standardization presents challenges. Standardizing and giving open access to animals and technology may help
  • Understanding the biology of what STXBP1 looks like within a species and across different species will help us to better understand this disorder


Overcoming the Pain of Milestones as a Special-Needs Parent

As a parent, we are all aware of the charts they use in the doctor’s offices to gather facts and objective data about our children. There is a head growth chart, height growth chart, weight growth chart, and then there is the dreaded developmental milestone chart. My daughter who has an STXBP1 gene mutation is the baby of our family. I don’t remember cringing when those charts came out with my first two children. I saw them as a way to monitor progress. I felt certain they would meet all the points they should and even if they didn’t, that they would soon enough.

These charts came to mean something very different to me when my daughter was born. They were now a way to monitor failure and points my daughter had not met and may never meet. They were a reminder to me of all the things she wasn’t and oftentimes left me in tears and feeling so discouraged and even depressed. I got to the point where I just convinced myself none of these things were going to happen. That way, when they didn’t, it wouldn’t hurt as much.

Much more so than the charts, I found birthdays to be absolutely devastating for me. It was an in-the-face milestone jammed full of the many things my child should be doing and was not. It was also a time to grieve the realization that the baby I had lovingly grown for 9 months was not the baby and future little girl I had envisioned. With these thoughts came a ton of guilt. Guilt over not being able to just celebrate her birthday and another year with her, guilt that I could not accept what was and be grateful for what I had been given.

I’m not sure I can say for sure what caused a change in my thoughts and feelings toward milestones. I do remember it was when Emma received her diagnosis at the age of five. It could have been the passage of time healing the wounds, maybe it was the need to find a way to enjoy my daughter and who she was, or perhaps it was the diagnosis presenting yet another trial for her. But suddenly, I saw her for the person she was, apart from my daughter, and the lost hopes and dreams I had for her at one time.

I saw a little girl who had to work hard at everything, even the simplest of things, and how she met each challenge with a smile and a motivation to “figure it out this time”. It took her four years to learn how to sit by herself, four years! She didn’t give up and when she finally got it, she was so excited and proud of herself. I don’t think I have ever stuck with anything for that long without seeing noticeable progress. Now when I look at her, I am inspired. I feel so blessed to be able to watch her and learn from her. My worst day could not amount to what she faces on a daily basis and there is no chart that could even come close to accurately measuring that. There will always be small moments of grief and that is okay, but there are many more moments of gratitude and my heart swelling with pride.

– Jennifer

Turning Anger into Joy

It’s a warm, sunny day and the kids and I decide to try out the new water park a couple towns over. I have begun to take for granted that we are an expected sight in our little town and few people pay us any mind. Everyone recognizes us and rarely are we confronted by uncomfortable stares.  You would think being 8 years in with a child with special needs would have toughened my skin and such a thing as 50 pairs of eyes watching us walk through the water park to find a place to leave our things wouldn’t phase me. Let me tell you, it is just as awkward now as it was when it first became obvious she was much too big to be a baby sitting in a stroller. 

The pain always catches me off guard. I believed I had felt about as much agony as was possible in regards to Emma, but the extreme discomfort of witnessing someone judging your child and maybe even making fun of them is indescribably painful. My first instinct as a mother is to protect. I feel angry and want to shelter her from the rude stares, the parents shushing their children’s questions of, “what’s wrong with that girl?” My next feeling is sadness and hurt, for her, for my boys, for me, for our family. “Will she ever be accepted for who she is? Will people always stare at her like she is an alien? What will happen when I’m not there to protect and shelter her?” Once I plow through those initial feelings, my thought is always, “If only they knew her. If only they knew our story and could see her sweet smile in the morning when I get her out of bed and she sees me for the first time that day. If only they were there in the delivery room when she suffered her first seizure and all my hopes and dreams came crashing down around me.”  

This has happened to us often and I slowly grew to dislike the way it left me feeling; resentful we couldn’t experience things like other families without stares and angry at people for their ignorance and often, blatant rudeness. If there is one thing my daughter has taught me, it’s that every challenge we face is an opportunity to learn and grow as a person and most of the time, these challenges are made much less so when we do use it for this purpose. I knew there had to be a way for me to work through this so it no longer stole our joy during outings. I also knew that people’s reactions stem mostly from fear and lack of education in regards to the special needs population. Of course, the brain knowing this is quite different from the heart feeling it. Still, was there a way for me to turn these uncomfortable situations into something positive for us, but also the people we were encountering? Could I educate and be okay at the same time? 

From these thoughts, ideas formed that if I could somehow introduce people to Emma and our family without having to say anything, it may ease some of the tension during these interactions, and open the door for people to ask questions and embrace acceptance. I created cards that had a brief introduction on the front of them of Emma and on the back contained information about her rare gene mutation and the medical issues that accompany it. I began carrying these little cards everywhere with us and started handing them out at the places we frequented the most. Our favorite grocery store, the pharmacy, and her brother’s school all got some. When I caught someone staring, I handed them a card with a smile on my face. Before I knew it, we couldn’t go anywhere without someone stopping us and saying, “Is this Emma?” 

The response to these cards has been inspiring and heartwarming. It still isn’t easy for me to see someone staring at Emma and sometimes I have to remind myself  of the reasons they do it and make a conscious effort to continue spreading awareness and educating. I know, though, that choosing education and kindness over isolation and anger has helped turn something painful into an opportunity for everyone, including me, to learn and grow. The journey has been long and uncomfortable and continues even now. More often than not, I am rewarded with reminders from the people in our community. Today, I pulled up to the pharmacy window and the tech greeted me with a warm smile. I pushed the button to roll down the back window so she could see Emma and say hi to her. I sign for the medication while Emma makes the tech laugh with her raspberry blowing. We wave goodbye and then I slowly pull away from one of our weekly, mundane errands filled with joy.  


Don’t Shoot the Messengers….

We live in a world right now where access to research dollars continues to shrink.  As I network at conferences and symposiums and meet with organizations that provide research dollars it becomes increasingly clear that labs are all competing for the ever-shrinking piece of the pie.  Many labs are struggling to make it.  Regrettably, epilepsy receives a MUCH smaller piece of the pie than it should given our numbers.  Being that  1:21 people are affected by epilepsy, it is unfortunate that we obtain less funding than diseases  that when combined are less than the people with epilepsy.  ALS, MS, Parkinson’s, CP are an example of similar diseases that each receive more funding than epilepsy but when COMBINED do no equal our ever-growing numbers.

When I look at our disorder, I see that  STXBP1 is at least 10 years behind similar genetic epilepsies with less numbers. STXBP1 is not as rare as many suggest and this belief is holding us back as a community.  In this climate where scientists, and increasingly physicians, are not trusted we can’t continue to dismiss work from scientists and physicians who have taken the time to passionately investigate our disease. It is easy to think that our reality is the same reality for others in our community when it isn’t.  A sample size of one or two, maybe ten may be important to those families in a small case study, but in the larger context we are all part of the tapestry that makes us STXBP1.  Our collective experiences combined into a large Natural History study will create a better picture of what STXBP1 really is.

Instead of fighting what does not represent our individual reality, or those with the loudest voices, why not trust in what the numbers are trying to tell us.  One study is a start but let’s continue to explore even larger studies so that we can TRULY understand what STXBP1 really means as a whole.


CSL Behring Makes Generous Donation to STXBP-1

We are inching closer to our first STXBP1 Natural History Study with CHoP! The team is working on an IRB and on Grants to secure additional funding for research so that we may properly fund this effort.

A HUGE Thank you is in order to my amazing company, CSL Behring, and my colleagues for their generous donations. This study will be the first step towards finding a cure, bringing more courageous families together, creating greater awareness, and attracting attention from the best and brightest scientists as physicians alike.


Pictured here: Megan O’Brien (CHoP Registry Coordinator), Dr. Helbig, Dr. Bearden (Leads), Anne Johnson and her son Mitchell, and Cameron Barrett (CSL Behring)

About Us: Leading the Charge Against STX Disorders

Our Scientists

It is a beautiful thing that parents come together around disease.  All of us from different walks of life, different corners of the globe all come together to learn and understand STXBP1.  As our numbers grow so will our growing pains as we struggle to find our identity in this orphaned disease world.  I would describe our community in many ways but one way stands out from my perspective.  There are those of us with very sick children who are desperate for a cure.  I want something that will stop me from repeatedly running into my son’s room to make sure he is still breathing, especially on those sleepless nights when he requires Oxygen (We lovingly call them O’s).  There are others with wonderful children who are making incredible strides in their development.  Many of those parents want to enjoy those children and live in a world where they can create lasting and wonderful experiences for their children.  In essence they accept their beautiful child as they are.  

There are others who are scientists or parent-scientists who have taken to devour and embrace science without the benefit of formal education.  Our “scientists” are those who want to move the community forward so that we have a therapy one day soon, even one that will only make an incremental improvement.  We do this so that will be ready with those who want to participate to open the door to more possibilities.  With the information, validated by geneticists, and neatly tucked away in a form usable by scientists and physicians we have a hope of moving forward. We want to move quickly towards progress.  Many organizations make the mistake of thinking that the parent organizations alone will be enough.  They are a beautiful thing for many but they are not enough if therapy is the end goal.  For those of us in this position we need to keep our eye on the prize and move forward in this difficult journey.  Our path is extremely painful, full of frustration, tears and sadness. It repeatedly tests our sanity, strength, our faith, and our relationships with others because of our passion to change the world.

There are many questions that weigh heavily on my mind (enough to keep me up many nights). Will we be ready if/when our research scientists come through for us?  If we are not, what will this mean for future exploration in STXBP1? How can we keep the scientific and medical community engaged enough to keep their focus on STXBP1? I am so grateful to the many “scientists” who came before me and laid the initial steps that we can build upon.  Building animal models was no small feat and I/ and many will eternally be in their debt for the sacrifices and passion it took to get us to this point.  

As our community grows, will we be forgotten?  Science is extremely unsexy and difficult to understand for many.  It is not fun to discuss, unless you are a total dork like me.  Science is expensive and it often takes years to realize benefits from an initial investment.  Science is a sacrifice and is selfless because it may mean helping the next generation.  Science is faith believing that the next improvement is right around the corner.  Investment in R&D in this country is shrinking and we only have each other and our friends in this lonely journey called STXBP1.  Let’s change the conversation and make science sexy again…. Let’s continue to stick together to help change the conversation.  Let’s continue the fabulous work my fellow world scientists are doing to keep the focus on STXBP1.