Alabama

Hello, my name is Chylynn Bastian.  I live in Spanish Fort, Alabama with my husband David and our three daughters, Rebecca, Emily and Grace.  Grace, 8, was diagnosed with STXBP1 when she was 3 months old.

California

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Hi there and welcome! My name is Niki Marsden and I am the mother of Jada who is 16 years old. She received her STXBP1 diagnosis in 2015 when she was 7 yrs old. She is also a stroke survivor. We reside in San Diego.

¡Hola y bienvenido! Me llamo Niki Marsden y soy la mamá de Jada. Ella tiene 16 años y recibió su diognostico de STXBP1 cuando tenia 7 años de edad (en 2015). Ella tambièn tuvo un derrame cerebral como reciennacida. Vivemos en San Diego.

California

Raquel and her daughter, Keyarah, are both from California (born and raised!). Keyarah is 21 and received her STXBP1 diagnosis when she was 13-years old.

Colorado

Hi, I'm Jennifer Wilson and my STXer is my 14 year old daughter Niley.  She had seizures since 3 days old and experienced delays in her development from about 6 months old, but we did not receive a diagnosis until she was 6.5 years old.  

She was born and raised in Michigan, along with her two younger siblings -Norah and Nate, and we recently moved to Colorado.  I'm originally from here, and am thankful to be near my family again (even though we are missing my husband's family).  I'm also thankful for the great resources Colorado provides compared to Michigan!  I'm still learning everything, but I'm very happy to share all my lessons learned from the past year with you!

Connecticut

My name is Meagan Acampora and I live in Woodbridge, Connecticut with my husband Paul Acampora, Sr.  We have loved and raised five children together, including our son Paul Jr. that has been diagnosed with having a microdeletion in his STXBP1 gene.  

I’ve held a diverse range of jobs from technology and marketing to preschool teacher.  My most important job has been dedicating my energy and love to our son Paul and all that keeping him healthy, active, and engaged requires.  In 2018 I became a grandmother for the first time and welcomed our second granddaughter last year.  The current position I hold (but not limited to) managing Paul’s schedule and health needs, “soccer mom” for my freshman daughter Grace, and watching my granddaughter full time.  

I am super excited to be involved in the Foundation's state representative program and hope that this resource is a blessing to any additional STXer families in Connecticut. 

Florida

I am mom to STXer Benjamin, age 2, and amazing big brother Nico, age 5. Benjamin was one week old when he received his diagnosis after a day of seizures prompted a hospital admission. We were officially diagnosed through whole genome sequencing and received a call from our neurologist on Saturday, August 20, 2022 with the results. Serendipitously, as we googled “STXBP1”, we were lead to the STXBP1 Foundation’s live family summit happening that exact day and our world was open to this amazing new family of support and resources. Since that time, we have been fortunate to build an amazing team of therapists and physicians to support Ben locally as well. I hope as an STXpert to extend to others what the foundation has so generously offered to us.

I am originally from Louisiana, but grew up in Orange Park, FL outside of Jacksonville. My husband, Marco, and I have lived throughout the state of Florida, as well as Birmingham, AL and New Orleans, LA. We moved to Orlando, FL in 2018 where we currently reside. We both work in the medical field and feel blessed to have this as a resource in navigating Benjamin’s care. In our free time, our family enjoys soaking up all the fun Central Florida has to offer from the beaches, restaurants, and attractions, traveling, and also having must needed low key days at home.

Illinois

Ayla -8

Diagnosed in 2020 at age 4

Maryland

STXer: Milo, age 7

Diagnosis @ 20 months of age 

Michigan

Hello! My name is Sandi Ray and I live in Michigan with my husband, Kyle, and our three kiddos—Kenny, Colin & Quinn. Quinn is our youngest and our sweet STX’er. She was diagnosed at 3 years old and is currently 10. As a family we love to be outside talking walks or bike riding!

Minnesota

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Hi! I’m Allison and live in the suburbs of Minneapolis, Minnesota. Our STXer, Ellen, 3, was diagnosed shortly before her 2nd birthday. She was born as a “neurotypical” baby and never showed any signs that anything was amiss and was hitting her milestones as an infant, until she wasn’t. Her slow progress to sit up around 9 months gave our pediatrician pause but didn’t cause concerns for her or us (she also was not experiencing seizures.) However, around the 18 month-mark, she wasn’t meeting her developmental milestones and that triggered genetic testing which showed she had a genetic deletion of the STXBP1 gene.

Ellen, or Ellie, joins our family as our third child and has two older brothers – Ben and Max – who adore her. While the diagnosis was life shattering and continues to fill us with uncertainty for the future, my husband John and I take each day as they come and work with Ellie on her timeline. We celebrate her “inch stones,” and have been thrilled to see her take her first steps and take up walking last year. We keep cheering her on and have been so excited to see her try to increase her communication skills. Additionally, the STXBP-1 Foundation and families have been such a huge resource and sense of support for us, we feel very grateful for this community.

Montana

Hello! My name is Katy Thomas. 

I live in Montana, USA and my STXer's name is James. James is currently 4 years old. He was diagnosed with infantile spasms at 3 months old and the STXBP1 diagnosis followed about a month later, after some genetic testing was completed. 

I am looking forward to helping out and using James' and our family's story as a source of drive and inspiration for families who are new to this journey.

North Carolina

My name is Julianne Stickley, and I live in Asheville, North Carolina with my husband and two boys. Callum is our STXer and is almost 4, and Desmond is our typically developing almost 2 year old. I work for a non profit called Read To Succeed and Jon is a touring musician. We got Callum’s diagnosis in August 2022 when he was almost 2. We have so much hope for what we know Callie can learn and do in the future, he’s doing so much and working so hard, and is spreading joy and love everywhere he goes. He’s our STX Sunshine boy!

Pennsylvania

Anna Thomas is mom to Ella, who is 21. Ella was diagnosed with STXBP1 in 2022. Anna lives near Philadelphia, PA with her husband Scott, Ella, and other children John (18), Peter, (16), and Audrey (13)

South Carolina

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Elisa Marin is a dedicated mother and passionate advocate based in South Carolina. She is the proud mother of three children: a spirited 11-year-old, a curious 7-year-old, and a vibrant 3-year-old daughter with STXBP1-related disorders. Elisa's journey as a mother has been profoundly shaped by her daughter’s diagnosis, igniting a fierce commitment to raising awareness and seeking a cure for STXBP1 disorders.

In addition to her family responsibilities, Elisa works full-time at a software company, where she leverages her skills to contribute to innovative solutions in the tech industry. Balancing her career with motherhood, she exemplifies resilience and determination.

Elisa is actively involved in advocacy efforts, connecting with organizations and communities dedicated to research and support for families affected by rare genetic conditions. She uses her voice to raise awareness, share her family's story, and inspire others to join the fight for a cure.

South Carolina

Hi my name is Megan Gilmer and I live in Anderson, SC. My husband, BJ, have two daughters, Aubrey and Riley Kate. Aubrey is my STXer she is 4 and was diagnosed in November 2021. She is an absolute ray of sunshine and one of the happiest little girls you will ever meet.

Texas

My name is Monica Hall and I live in Saginaw,TX. a growing area just minutes north of the Fort Worth Stockyards. Our STXer is my granddaughter Willow. She is a wonderful 5 year old and brings us so much joy. Willow was diagnosed when she was 3 months old. Her mom, my daughter Sarina, lives with us along with Willow and her younger siblings.

Vermont

Hi! 

My name is Harlei. 

I currently live in Reading, Vermont and I have three children. My STXer is my middle child, and her name is Astraea. She received her diagnosis in April 2021 when she was 2 ½ years old. She is one of the minority of STXers who do not have seizures. Having an official diagnosis can be difficult and rewarding at the same time, and we are continuing to navigate the ups and downs that happen on this journey. I'm very excited to represent Vermont and all the resources that it offers, especially as a descendant of a long line of Vermonters.

Virginia

Jen Reese is the Regional Network Coordinator for the Center for Family Involvement (CFI) at the Partnership for People with Disabilities at Virginia Commonwealth University. Jen is a co-creator of the Genetic Navigator Program at CFI which helps families navigate barriers to genetic diagnosis, and then provides support after diagnosis. 

Jen’s older daughter Cailyn, now 16, is diagnosed with a rare Genetic Diagnosis of STXBP1.

At first Jen’s advocacy was focused on Cailyn’s healthcare needs and a multitude of specialists. As the years went on she learned more about supports and services available for kids and started educating other families. Sharing their story became a part of the Reese Family’s life.

Jen has marched in Richmond with the Arc of Virginia and met with State Senators and Delegates. She participated in a round table discussion with Senator Tim Kaine concerning threats to Medicaid in 2017 and is a supporter of the Little Lobbyists. Jen has served as a guest lecturer at Shenandoah University for both nursing and physical therapy students.

Jen is a 2014 graduate of Partners in Policymaking run by the Virginia Board for People with Disabilities. She worked at the ENDependence Center of Northern Virginia for four years serving as a Medicaid Service Facilitator and Director of the Loudoun Satellite office.Description goes here

Washington

Amelia & Steve are the Washington STateXperts and happy to talk with anyone living in or moving to the area. They live in Seattle with their son Rowan who is 12 and was diagnosed with STX when he was 2 years old. Amelia is a professor and Steve works at a K-8 school.