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Get to know the STXBP1 Foundation/STXBP1 Disorders

These last few months have been a whirlwind for the STXBP1 Foundation board members, since becoming an official 501(c)3 (see letter) in June of this year.  We would like to personally thank Harbor Compliance for their professional assistance and guidance during the acquisition of our non-profit status.  Harbor Compliance continues to be a valuable resource to the STXBP1 Foundation in helping us navigate the many facets of the non-profit world.  I know I don’t only speak for myself when I say that it is a true honor to serve and be a member of this community.  We love our families and have genuine affection for yours,  which is why we work tirelessly to create a better life and future for our children. While we can’t promise a cure,  we can tell you that this is our ultimate goal and one we will make every effort to achieve it.  If you have questions regarding our organization, please feel free to comment below and we will do our best to answer. 

Let me begin by thanking our board and Stephanie Smith White for their participation, tireless efforts, and generous donations of 1K intended to cover our anticipated operating expenses. This is done so that external donations can be applied to our mission (research, advocacy, & awareness).  Our board members can be found most evenings either on the phone with one another or with researchers, and sometimes even speaking to other parent organizations to further our cause. Every day each one of us juggles the many hats of a career, caring for our special needs and medically complex children, enjoying a personal life, and supporting the STXBP1 Foundation.  No one on our board is allowed to financially benefit from this affiliation and is never paid a salary. 

This is truly a labor of love and part of a genuine passion to serve our community. Most of our board is new to the non-profit world, so navigating this area is a bit of a learning curve, however, I can assure you that we are all up for the challenge! Along with myself, I would encourage you to take the opportunity to thank Russ Novy, Charlene Son Rigby, Jennifer Clatterbuck and Melissa Hioco for their tremendous efforts in getting this organization off the ground and for their continued support working for our community!


What have we already done?

  • Assembled our Scientific Advisory Board
  • Reviewed requests for research partnerships
  • Managed relationships with various labs & CHoP
  • Met with Congressmen to discuss topics that are important to our community (e.g. education, healthcare, early detection, increasing investments in research, etc.)
  • Created Brochures and promotional materials to provide at conferences and to share within our community
  • Attended NORD & Global Genes conferences (not financed by the STXBP1 Foundation)
  • Set up financial processes & systems
  • Recruited 30 families into our registry at Simons VIP
  • Prepared for AES conference in December

What do we plan to do over next year?

  • Hold our first scientific advisory board meeting 
  • Host Parent/Simons meeting in December in Washington D.C.
  • 5K Run/Fundraiser in Ohio & Pennsylvania 
  • Initiate planning for our first scientific strategy workshop in California
  • Translate Brochures to Spanish and French as well as any languages where we have parents willing to translate
  • Improve website 
  • Fundraise (Hold large Fundraiser in Feb. 2018)
  • Find more amazing volunteers
  • Expand our registry membership and information in it (data and bio-samples)
  • Continue to manage research partnerships
  • Continue to review new research requests

Our History

 Prior to forming STXBP1 Foundation/ STXBP1 Disorders 

  • February 2015 My son Mitchell, was diagnosed with STXBP1
  • March 2015 Joined Parents of STXBP1 Facebook Page – Learned so much from amazing parents and began to form strong relationships with Erin, Leslie and some other members in the community
  • April of 2015 (3 months after Mitchell’s diagnosis) I was convinced that classic gene therapy would work and was pushing CHoP to help us.  I looked at the STXBP1 gene and saw that it fit nicely into the standard vectors used for Gene therapy.  I also saw that we saw that Dr Sudhof’s lab was able to restore STXBP1 Function in neurons with the STXBP1 was added back into neurons so I thought this was a plausible approach.   In my search for experts I found Dr Davidson, Dr Kay, Dr  Rizo-Rey, and finally Dr Ingo Helbig.  
  • Additionally, I created a parent survey and from the 5 patients I questions I began to see some trends. The questions were based on questions that I saw coming up repeatedly in the threads.  When I shared my initial findings with CHoP they felt it was  interesting and suggested a patient registry was best next step. 
  • May 2015  Attended ASGCT Conference in New Orleans began to meet other gene therapists and learned about potential future therapies and some of the challenges for STXBP1
  • August 2015 After much deliberation and analysis of the existing literature on STXBP1 and gene therapy, we collectively felt it was not safe at this time to move forward with this approach.  Dr Davidson encouraged me to work with Ingo to begin to host some events and a future strategy session in order to begin the creation of a parent organization. 
  • September 2015 Mitch was near death in the hospital and I had to keep myself occupied so I created our first logo and started writing NIH grants to pass the long nights in the hospital. The only way I knew how to cope was by fighting STXBP1 in the only way I knew how. 
  • My best Friend Mandy Younger gave CHoP $10,000 so that we are able to open the CHoP STXBP1 Fund.  She did not want to wait to see us fundraise so she generously donated allowing us to open the fund.
  • October 2015 Attended NORD and was introduced to staff who quickly became mentors to help in our journey.  NORD suggested that our  first step was a website and wanted us to form a non-profit. 
  • I contacted a tax non-profit specialist who advised me to wait until I could prove that I was able to raise funds.  They did not want to see me become distracted with the paperwork and thought our time would best be spent laying down the rest of the ground-work first. 
  • December 2015 hosted first CHoP parent’s night in Philadelphia and 8 parents attended! It was amazing to meet the group of parents there and I also met John and Russ (phone) and together we exchanged ideas and saw the need to form a parent organization.  Russ dove in and helped drive most of the website creation.  Together we learned the ins and outs of WordPress!
  • February 2016 Held our first fundraiser in my hometown of Doylestown. Raised ~ $13,000 for CHoP ($875 from STXBP1 Community)
  • Russ surprised me right before our event by making our first website go live just in time for the Charity Ball.
  • Ingo Helbig & Hannah Stamberger  published the largest STXBP1 Study at that time.
  • March 2016 Russ and I began our search for the right registry.  We started working with the Spanish Dravet Foundation to develop a tool that could be customized for use with our children (Wacean).  This platform offeres real-time comparisons of de-identified information and  of medications for families and allows for seizure tracking.  In the end, the patient-entered platform did not seem to be utlized by our families, though we still have this currently available to our families. 
  • April 2016 Theresa Johnson held first 5K for CHoP in Winnipeg in support of Ella! $530 raised from her generous friends & Family.
  • June 2016 Colleagues at work ran a drive for Mitchell and raised over $5,000
  • July 2016 In order to take STXBP1 a little further, I  used personal funds to hire John Crawford (graphic designer) and brought in my good friend Julie Shumaker (SEO/web expert in life sciences) to help us improve the website. 
  • September 2016  I hosted the 2nd STXBP1 CHoP – Hosted event  for 20 parents! While there, I met Jennifer and Melissa and we knew we needed to work together!
  • December 2016 At AES, John, Izabella, and I met Alex Crawford (Zebrafish researcher – Natural products & Drug Re-purposing) in person as well as Mingshan (Mouse Model). We discussed our kids and ways to best work together in the future. 
  • I met various organizations who support registries and learned about some of the benefits and challenges for each.  At this stage, it became clear that Simons VIP probably offered the best option. Simons VIP has counselors on hand to support accurate entry into the system.  The Simons VIP patient registry is Funded by the Simons Foundation, so there is no cost for families or to the STXBP1 Foundation, and it involves minimal patient entry.  Patient-run registries can be difficult to manage and expensive to maintain so Simons really took much of the risk out and offers many benefits.
  • Later in December, I held a call with a handful of parents to determine if this is a tool that we could leverage and the decision was a unanimous YES! 
  • February 2017  2nd Annual Charity Ball held in Doylestown, PA $4,000 raised including $625 from STXBP1 community!
  • I met Charlene and was inspired by her energy, intelligence and kindness and I knew we would build great things in the future. 
  • March 2017  The board began its journey in forming our Non-Profit
  • June 2017 The STXBP1 Foundation became recognized as an official 501(c)3. The STXBP1 Foundation also listed STXBP1 Disorders as its operating company. 

~ Anne Johnson


Celebrating the Journey of Inchstones instead of Milestones

Paul was diagnosed with a deletion of STXBP1 in the Fall of 2010. At that time we were told by the geneticist that he was one out of two children in the world to have STXBP1. I felt isolated and lonely. I started a FB page called Sir Sweetness Paul in 2011 in the hopes that others with STXBP1 would find us.

During that time I enjoyed reading blogs by parents of children who had disabilities. I came across an article by Rachel Zook in 2011 called, “Learning to Enjoy the Inchstones.” She talks about looking at a baby book of “milestones” that her daughter was supposed to reach and at what age. She finally got tired of looking at what her child couldn’t do, and decided to rejoice in the progression her daughter was making, no matter how slow. She coined the term, “inchstones.” That changed my paradigm of thinking as I watched Paul develop milestones behind schedule.

I decided to be his personal cheerleader and celebrate each inchstone he had! Paul started rolling at 13 months old, he clapped for the first time when he was three years old and he also said “momma” for the first time with intention, he sat unassisted for 5 minutes and started being able to feed himself his bottle when he was four years old. When he was five years old he learned to use his hands more and was able to hold and play with a stuffed animal. Currently, he is 7 years old and we use a device which is helping him learn to crawl. We mourn when he loses an inchstone, like saying “momma.” I hear it maybe twice a year for a few days then that skill is gone again. When it comes back we rejoice and do the “happy dance.” We never give up on him learning more inchstones or relearning the ones he has already mastered.

STXBP1 Disorders is introducing you to a person with STXBP1 each month, called the STXBP1 Squad. In part we started the Squad because no one needs to be alone on this journey. We all can cheer on the squad as they reach new inchstones. It’s all about the process and celebrating where your child is at now. Do you have any #stxbp1inchstones you’d like to share?

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.