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Marathon

 

Following the success of our 5K, there are many analogies to what we did on 10/21 and how we live our daily lives. In our search for a cure and living with medically fragile children, it is important to remember that our lives are more of a marathon and not a sprint. If you look at it all it is overwhelming and the importance of pacing is key to survival and also our success. We also know the importance of passing along the baton when we need a helping hand. Our lives work because of the people who surround us whether it is the dedicated nurses, physicians, therapists, or those amazing friends who will take our calls when we are breaking. Our lives could not function without our intricate network of friends, family, and professionals. I know that this is the case with me as well as many others in the community.

When it comes to breakthrough therapies, it can take decades to realize all of our hard work. At any moment in our journey parents, we as parents could easily become fatigued. Our dedicated physicians and research partners may move on or retire. Nothing is constant and change is really the only certainty in this world of ours. Special needs and families truly understand that chain reaction something as simple as a cold can affect.

Translating all of this to our efforts, we realize that our organization must live on matter what. Our information must live on matter what. Our momentum must live on no matter what. It is a tall order to support a non-profit while at the same time being a parent to one of our beautiful STXers. Burnout and tragedy may affect our roles at any moment. This is one of the reasons we have set up our organization the way that we have with transparency and information sharing. Even though we are a small group we try to keep each other in the loop of everything that we do.

In the same spirit, we chose a registry that is institution agnostic that is incredibly well funded (self-funded). It has the support of gene counselors so that we may empower parents worldwide with the information needed for them to make the decisions that are best for their families. In addition to storing surveys, we have an option to store stem cells and fibroblasts so that we can encourage and entice study in STXBP1 across our globe. We have done this so that no matter where the road takes us the legacy of our information and learning can live beyond each of us. We want to put the power in the hands of all of us so that our families are set up no matter where this road takes us. We hope to cross the finish line with all of us together.

Get to Know us

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!

-Anne

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

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.

STXBP-1-Team

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.

-Anne