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 offers 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