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 IRS Determination 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

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A Tale of Two STXBP1 Journeys

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Our History