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.

But the days that followed, the 'faces' continued more and more frequently so by day three she made 50 of them in one day. That was the day we found out that she had epilepsy - the day before Christmas 2020. We spent Christmas Eve in the hospital while our three year old girl was with her grandparents. Four weeks after that, we got the devastating diagnosis. Inga was 12 weeks. D-day 13th January 2021. A day that we try to forget because it holds so much grief.

STXBP1 slowly became a word in our vocabulary - wish we didn't know it. A printed out article about this horrible disorder was handed to us and out of the hospital we went. Not ourselves anymore but a family completely crushed by reading about the inevitable.

Our perfect 3 month old baby that had not yet missed any milestones and with seizures under control since that horrible day before Christmas.

Starting to read about STXBP1 online only made it worse. The most claustrophobic feeling imaginable. Like knowing you are all going to be in a car crash in a year and you can just wait for it to happen.

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

Seizures are still under control, and we are grateful for that.

But STXBP1 affects Inga in many, many ways even though she is seizure free.

A short sentence like 'she is non verbal and her cognitive age is 1 year' really sums up the most awful impacts of STXBP1. It shapes Inga as a person and inhibits her from growing up. She will maybe forever be a very small toddler and that is a scary thought.

She also has little to no sense of danger, still puts stuff in her mouth, and her hands shake when she uses them.

It takes absolutely forever to learn a new skill, and even with repetition 1000 times - it is not everything she can learn.

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

Inga has recently learned to jump and she is soooo excited about that!

How would you describe Inga's personality in three words?

Inga has a great sense of humour, is curious, and persistent.

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

Her big sister Lisa.

Water in any way shape or form.

Slime.

Jumping.

Playing with things that she knows she is not allowed to 😅

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

Inga is positive about anything that we present her with. It absolutely amazes us how open her mind is to both new people and new experiences. She really brings joy wherever we go. We can bring her anywhere it seems. We haven't found her limit yet. She can find something fun in any setting as long as we run around with her. And we will. Always.

Are you or your family doing anything special for STXBP1 Awareness Month this September (2026)? 

We don't have any plans yet but we will probably do something for her birthday in October instead when we have more energy than at the moment❤️

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

This is so hard because I would love to write a cute little catch phrase or a quote that made this seem more light or positive.

To us, STXBP1 is a daily struggle. But we are very very grateful that so many scientists and pharma companies are trying to find a cure for this disorder. That is for sure not a given with a disorder as rare as STXBP1. Sometimes we say that we are the lucky of the unlucky having science deeply involved in STXBP1. ❤️🧬