This is Annie. She will be 10 years old on September 25, 2026 and lives in a valley (Niedermennig) close to Trier in Germany. Hear more about Annie's story from her mother, Katja.

At what age was Annie diagnosed with STXBP1, and what was that journey like for your family?

Annie was diagnosed at the age of nearly two years. It was very complicated to find out what was going on because she was absolutely healthy but she did not develop or show the typical milestones other children of her age did like being able to sit, turn around, crawl, etc. When she was 17 months old she had a series of seizures which then led to several more detailed genetic testings until we had a match.

What are the main ways STXBP1 affects Annie day-to-day? 

Annie is not able to stand or walk alone, she does not speak. She needs permanent care.

Is there a therapy, milestone, or victory (big or small!) that Annie is currently working on or recently achieved?

We are working on her balance and movement. Once a week she has a therapy in a „LOKOMAT“, a kind of robot that makes her walk. She likes that very much and we hope that she will be able to imitate the movement herself and make some individual steps.

How would you describe your Annie's personality in three words?

Happy, patient, curious.

What brings the biggest smile or belly laugh to your Annie's face? 

Annie loves music, she loves to „play“ the drums and the guitar herself. She adores swimming and water and horses. When she is riding a horse, you see that she is very proud and concentrated. She also loves soap bubbles and she likes windy days. She then observes the trees. Annie loves her sister Lilli and her cousin Lara who often play with her. Her favourite toys are balls.

What is Annie's "superpower" or the thing that inspires you most about them?

Her superpower is her motivation and her curiosity. She is interested in everything I show her and loves observing things, people and places. She is very motivated when she has to practice standing or sitting alone on a chair. You can really see that she wants to progress as much as possible.

What is one piece of advice or hope you would give to a European family who was just newly diagnosed with STXBP1?

There is always a solution to everything. My recommendation is to take small steps and only to focus on things needed now. I love the message on the fortune cookie I got some days after the diagnosis: Your path is hard, but it will be amply rewarding. 😉