We are part of the STXBP1 Foundation and are a parent organization that provides money to the fund for pursuits that will benefit research. We are comprised of a diverse team of families and their supports, scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy. In fostering partnerships with physicians, researchers, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and accelerate the time to finding a cure. We believe that through our work, we are leading the charge towards improved therapies and ultimately ending STXBP1 Encephalopathy. Our International STXBP1 Family has grown tremendously to 300+ united and strong and we will only continue to grow our numbers as other families have access to genetic testing.
- Create awareness in the disorders associated with STXBP1 mutations
- Fund Research to accelerate discovery of a cure
- Provide families with tools to help them understand the disease & how to get involved
- Advocate to improve early detection
- Foster activism to help change policies in favor of orphaned diseases
- Improve the lives of our STXBP1 Family
Meet Our Board
Anne Johnson – President
Charlene Son Rigby – Vice President
Melissa Hioco – Treasurer
Russ Novy – Marketing Director
Jennifer Clatterbuck – Communications & PR Director
Heather Jones – Secretary
Anne Johnson, PMP (President) Philadelphia, Pennsylvania
I was born in Spain (two months prematurely) my devastated parents were told I would die as a result of my underdeveloped lungs and central nervous system. Well, I proved every Dr wrong and now I can speak with 100% certainty that my son has the same fire and determination. In his four short years, we have lived through half a dozen very close calls. I was told that my son would not see a cure in his lifetime and am determined that the parents in our community will prove them wrong.
I was drawn to science from as early as I could remember because of my brilliant grandfather’s (Yayo). I was pushed even more resolutely, after mourning his loss to ALS. I didn’t want other families to deal with the same loss so my destiny was set in motion. I obtained my BS from Drexel University and attended graduate courses in pharmacology at Thomas Jefferson University. I worked in Genetics laboratories at GSK, Thomas Jefferson, and Merck where I became very familiar with basic research and the discovery process. After several years working as a Business Consultant at GrantThornton, I returned to my roots and now work as a Medical Writer.
Charlene Son Rigby (Vice President) San Francisco, California
I am excited to join STXBP1 Foundation Board. It’s amazing to think that 10 years ago we didn’t even know about the STXBP1 gene. Now we have the ability to diagnose patients with STXBP1 disorder through genetic testing. I am eager to help build awareness of STXBP1, and accelerate discovery of new treatments and hopefully a cure.
Professionally, I have spent the last 20 years building new biotech and technology companies. Currently, I am Senior Vice President, Customer Operations at Fabric Genomics, a genomics software company focused on rare disease diagnosis. My career work in rare disease started coincidentally right before my daughter, Juno’s, diagnostic odyssey started.
Juno,started missing milestones around 4 months old; she was diagnosed after a 2.5 year journey. Her positivity and persistence inspire me. I am committed to doing everything I can to help her live a full and happy life.
I live in San Francisco, California. I previously served on the Board of the UC Berkeley, Haas School of Business, as the Co-Chair of the Haas Alumni Council, and as Treasurer of the Planned Parenthood – Golden Gate Action Fund. I received B.A. in Human Biology from Stanford University and an M.B.A. from U.C. Berkeley.
Melissa Hioco (Treasurer) Roseville, California
I grew up in the Central Valley of California, where I graduated from CSU, Fresno with a degree in Health Science. Soon after college, I married my high school sweetheart and we moved to Northern California, where we still reside today. After a few years of marriage, we were blessed with a beautiful baby girl. After four more years, which included a career change to teaching and a military deployment for my husband to Iraq, we were blessed with our second child, a son named Alex. His birth would forever change the course of our lives.
Alex’s development was delayed from the beginning, and he began to experience documented seizures at one year of age. Over time he was diagnosed with cerebral palsy, epilepsy, autism, ataxia, reflux, and a mitochondrial mutation. However, we knew that there was something else that we just had not discovered yet. We knew that we were on a mission to explain our unique and special boy. In 2014, after completing a newly developed whole gene exome test, we discovered what had been eluding us for many years. We discovered the culprit of all of Alex’s symptoms, an STXBP1 disorder; a rare genetic disorder. We were ecstatic that we had discovered the answer, yet saddened that there was little information known about the disorder.
With nowhere to turn, but to our own devices, we began to research what little was known. While searching for information we discovered an STXBP1 disorder online parent community. What an amazing discovery! It was clear that I had to get involved in this community.
I am now proud to be a founding member of the STXBP1 Foundation. It is my calling as a mother of a child with the disorder to be an advocate for our children and to raise awareness of this unique disorder. It is my goal & the goal of the STXBP1 Foundation to better understand STXBP1 disorders, and thus better understand our children in hopes of improving their lives.
Jennifer Clatterbuck, (Communications & Public Relationships Director) Marietta, Ohio
I spent 5 years traveling all over the Eastern United States, reaching out to doctors and research facilities trying to find a diagnosis for my daughter. Finding the answer did not provide the closure I had hoped it would since STXBP1 was still new and not much was known about it or its role in the body. Stopping there was not an option. I wanted to direct the energy I had been using to find a diagnosis toward pursuing treatments, finding funding for research, and raising awareness. I have been working on developing relationships with our local media and am most passionate about raising awareness and ultimately, support for our children and the STXBP1 foundation.
I have a health science degree from Ohio University and am a licensed Physical Therapist Assistant. I am a single mother to 3 amazing children, Christian, Wyatt, and Emma. The lessons I have learned from my daughter, Emma Rose, are too numerous to mention here. I barely recognize the person I was before, having been forced to hone patience, tenacity, and intuition over the last 9 years. My life plans and the path I had chosen were literally derailed in the best possible way. Now the lessons she has taught me will be used to help others.
Russ Novy, (Marketing Director) Danville, California
I joined the STXBP1 Foundation Board of Directors in May, 2017 as a founding member to help make a difference in our special community of families affected by rare genetic diseases. I personally believe that with the drive and determination of loving parents, we can accelerate awareness of the STXBP1 disorder and fund research to find better treatments and a cure. I am proud to volunteer as the Director of Brand & Marketing where I can leverage my strategic marketing experience gained from over 30 years of expertise and leadership roles at SAP, CBS, Adobe, Mitsubishi, as well as various agencies and start-ups.
I reside in Danville, CA with my spouse, John, and our two girls, Allison and Katelyn. Our Katelyn was diagnosed with the STXBP1 disorder in 2012 after 9 years of searching for the cause of her condition. Katelyn is the sweetest, most lovable little Angel and my favorite part of being her parent is simply slowing down to live in the moment with her.
Heather Jones, (Secretary & Sponsorship Director) Raleigh, North Carolina
I am so honored to join the STXBP1 Foundation Board and to represent our close-knit and supportive community. I was introduced to the STXBP1 world when my son was just 3 weeks old. He was born with an unexpected cleft lip and palate and several other midline anomalies so the PICU doctors quickly ordered a microarray within hours of him entering the world. We didn’t expect the test to come back with any findings but were floored when we found out that Camden had a microdeletion of over 4 million genes (one of which was STXBP1) and when we were informed that he may never walk or talk. So began our journey to find out everything about STXBP1, prove our geneticist wrong and pour our hearts and souls into joining the fight to find a cure.
I wasn’t sure how I could use my skills to help join the fight, but I knew I wasn’t going to take a backseat. I am a CPA by trade and have been working in both the public accounting and corporate accounting sectors for the past 13 years. I am excited to leverage the business acumen gained during these years to help the Foundation lead the charge to finding a cure.
I’m supported in this journey by my husband, Matt, and our three kids – Clara, Ralston and Camden. We have lived in North Carolina since 2015 and resided in Ohio for many years prior.