Meet some of our European STX-ers!
Meet the individuals and families who make up our European STXBP1 community. These personal perspectives highlight our shared resilience, hope, and community connection.
This is Inga. She is almost 6 years old from Lejre, Denmark. Hear more about Inga's story from her mother, Katja.
At what age was Inga diagnosed with STXBP1, and what was that journey like for your family?
The pregnancy and first 8 weeks with Inga were completely normal. We were happy that the birth went fine. We left the hospital four hours after the birth being the super cool and calm second time parents as we were. I remember having the talk when she was 4 weeks old that is was a lot of work having a 3 year old and a new baby, but at least they were both healthy. Four weeks after that we found out that Inga wasn't. At 8 weeks she began making strange faces. We knew that it didn't look right and went to the doctor the next day. We were sent to the hospital and at first they thought it was digestion problems because she seemed like a complete average newborn.
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.
Lars Schuyesmans is 41 years old and lives in Belgium. It wasn't until he was 39, after a search spanning decades, that he finally received the diagnosis of STXBP1. For his parents, this finally brought relief and clear answers after nearly 40 years of uncertainty.
Personality in 3 words:
Cheerful • Empathetic • Flexible
His favorite things:
Music is indispensable to Lars; familiar children's songs offer him peace and a sense of security. He travels between his facility and his parents, and in every bed, a favorite stuffed animal awaits him to give him a familiar feeling. Lars is a wonderful uncle, loves helping to care for the rabbits and alpacas on the farm, and brings warmth and cheerfulness wherever he goes!
Imke was born in 2004 and lives in Lokeren, Belgium. She received her STXBP1 diagnosis at the age of 9 via UZ Gent and UZA. From Monday to Friday, she stays in a self-established parent project, where she lives with 8 other young people.
Who is Imke? Imke is an easy-going girl, a real cuddle bear, and 99% of the time an incredibly happy "ray of sunshine"! She can also be rigid at times and needs clear structure and assignments to get started.
Her favorite activities
• Flipping through books, preferably her own photo albums with pictures of people she knows
• Listening to music and watching TV (Studio 100 Plop, Nachtwacht, Like Me, FC De Kampioenen, and Sinterklaas)
• Driving, walking, and cycling
