Pola was diagnosed when she was five months old. The first signal that worried us and the doctors was her head — larger than the growth charts suggested. Even before we knew the diagnosis, Pola was already “in training”: from her third week of life, we were taking her to rehabilitation, first to an osteopath, then to a physiotherapist. After several visits to different doctors, we were referred for WES testing — and that gave us the answer: TAOK1, a de novo variant. To this day, we remember the feeling of seeing that name for the first time. Back then, it meant nothing to us. Today, it is part of our lives — and the reason this foundation exists.

Pola’s variant is extremely rare even by the standards of this condition — it affects a non-coding part of the gene. That sounds very scientific, but on a daily basis Pola effectively reminds us that a diagnosis is just one of many things we know about her — and not the most important one at all.

Because Pola is, above all, an incredibly cheerful, sunny, and clever child. She is intelligent and inventive, she talks a lot, and her intellectual development is right on track. Pola’s biggest challenge is motor development: because of her larger head and reduced muscle tone, she reaches every motor milestone with more effort than her peers. But she does reach them — step by step, on her own terms, with a determination that sometimes puts us to shame. Her second challenge is nutrition: Pola has a histamine allergy, and gluten and dairy are excluded from her diet as well. Planning her meals is a form of advanced household logistics.

And what fills Pola’s days? At the moment, the undisputed leaders in her ranking of favorite activities are Hot Wheels cars, play dough, and helping with household chores — vacuuming with Pola takes longer, but it is definitely more fun. Everyone around her loves her for one thing: an incredible joy of life that she passes on to anyone who spends even a moment with her.

It is for Pola — and for all children like her — that we do what we do. If you are reading this story because your child has just received a similar diagnosis: you are not alone. Reach out to us.