…a smile that speaks louder than words.
Nikolka is 4.5 years old, and at first glance she looks like any other little girl. She is always smiling, full of curiosity, and her eyes shine with joy when she hears music or sees animals. She loves dancing, being around children, and she absolutely adores animals – especially horses and dogs. She is her mommy’s greatest love, and she always wants to stay close. She already has a strong sense of fashion – simply a little lady who wants to be beautiful. And if there was an evening ball, she would surely create the most magical hairstyle for you.
Nikolka is our little girl of pure joy – because that is exactly what she brings into our lives. Her smile can light up an entire room. Her hugs are full of a love so pure, they can warm even the coldest hearts. She is extraordinary, because she naturally brings out the best in people and spreads love everywhere she goes.Every single day, she teaches me how to be stronger, more patient, and a better mother… and a better human being.
Her smile is a quiet miracle… but her world is a little different.
Behind her beautiful smile, there is a story that changed our lives forever. Nikolka was born with an extremely rare genetic syndrome that we didn’t know about. Until she was about 2.5 years old, we truly believed she was just a healthy little girl who was developing a bit slower – walking later, and without speech.
But slowly, the delays became more visible.There were countless examinations, hospital visits, and appointments with specialists. We were searching for answers… but none came. Until the end of December 2025. That was the moment when the genetic test results arrived.
It was one of the hardest moments of my life. A shock that took my breath away.But at the very same time… an unexpected relief. Relief from knowing that I didn’t fail as a mother. That all the sleepless nights, all the fears, all the questions and tears had a reason. From that moment, our lives changed forever. But one thing never changed — Nikolka’s smile, her love, and the light she brings into this world. And that is why we will never stop fighting for her future.
Nikolka’s diagnosis is called MED13L syndrome.
It is a rare genetic neurodevelopmental disorder that affects chromosome 12 (which is responsible for development and progression). There are only about 200 children in the world with this condition, and so far, we are the first reported case in Slovakia and the Czech Republic.It most commonly causes developmental delay, low muscle tone (hypotonia), severe speech difficulties or complete absence of speech (up to 99%), intellectual disability, and neurobehavioral symptoms (autistic traits, restlessness, hyperactivity, and emotional outbursts).
This means that her overall development is affected – speech, fine and gross motor skills, learning, behavior, and everyday functioning.
Associated diagnoses can also include congenital heart defects, epileptic seizures, and brain MRI findings – fortunately, Nikolka’s heart is healthy and she does not have epileptic seizures.
She has a de novo variant, which means the genetic change was not inherited from either her mother or her father.
Things that are natural and effortless for other children are daily challenges for Nikolka. She still cannot walk up stairs independently without help, she cannot jump, and she lacks confidence in her movements. She needs a lot of therapy and rehabilitation to one day achieve what other children learn naturally.
She is also very selective with food. She has severe histamine intolerance and an allergy to cow’s milk protein.
Even ordinary days therefore require a lot of attention, patience, and adaptation.
What hurts me the most is that Nikolka cannot speak. We don’t always know what is happening in her mind — what thoughts she has, what she wishes for, what she dreams about… But she understands most things. She perceives, she feels — she just cannot express it in words yet, even though she is trying very hard.
Every small progress is a huge victory for us. Every new movement, look, effort, and word — has immense value.These are small things that make her world beautiful, and we are learning to see beauty exactly in them.
Why are rehabilitation therapies so important for Nikolka right now?
With MED13L syndrome, the most important thing is to start as early as possible. Nikolka is still very young, and her brain currently has an incredible ability to learn new things – this is the period when her development can be influenced the most.
Our greatest hope lies in intensive rehabilitation stays, regular therapies, specialized speech therapy, and other targeted treatments. Unfortunately, these therapies are not covered by insurance and are financially very demanding.
A 14-day rehabilitation stay at AXIS Piešťany (Cognitive program) costs 2,940 EUR (12 therapy days), and this price does not include accommodation or meals.
My dream is for Nikolka to start speaking and one day be able to live more independently. The truth is that today, no one can say exactly how many therapies she will need, when a breakthrough will come, or how fast her progress will be. The future is full of unknowns.
We don’t know how far Nikolka will progress, what she will learn, or where her limits will be…But we do know one thing – without regular professional support, her chances decrease. And the more quality therapies Nikolka receives, the greater her chance to progress.
And I don’t want to lose even a single opportunity that could open the door to a better life for her.
PLEASE, to all friends, family, and kind-hearted people — help us, help Nikolka, so that her future depends on her effort… not on our financial possibilities.
If you decide to support our daughter, you will help her take another step forward — toward movement, words, greater independence, and a better quality of life.
From the bottom of our hearts, thank you for every share and every form of support.
With love, gratitude, and humility,
Nikolka’s Mommy
