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The Story of Urban - The Boy Who Started It All

Written by Špela and Samo Miroševič, Urban’s parents

Urban was born on June 14, 2019, with a perfect Apgar score. He was a beautiful, healthy baby boy – ten tiny fingers, ten tiny toes, and an angelic smile, as if he somehow knew he would change our world forever.

As parents, we knew what milestones to expect. Babies usually hold their heads steady between 2–3 months, and start bringing toys to their mouths between 2–4 months. Urban wasn’t reaching these milestones.

At a routine check-up, his pediatrician noticed that his muscle tone was extremely low and that he showed signs of a movement disorder. We were referred to the Pediatric Neurology Department, where Urban underwent a series of examinations – EEG, MRI, genetic testing, and hospital observation.

On March 25, 2020, we received the diagnosis: CTNNB1 Syndrome. 

At first, we didn’t know what it meant. We only knew that the word syndrome rarely came with good news. Then we read the medical description:

“CTNNB1 is a severe intellectual disability–progressive spastic diplegia syndrome. A rare genetic disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, visual impairments (strabismus), facial dysmorphism, and behavioral anomalies (autistic features, aggression or self-injury, sleep disturbances).”

We were shocked. Until then, Urban’s doctors had only mentioned motor delays, and no one seemed concerned about his intellectual development. Accepting that Urban might never walk was one thing. But imagining that he might never speak, never understand us, never say “I love you, Mom” or “I love you, Dad” – that was something we couldn’t accept. In a single phone call, dreams of playing games together, watching movies, and sharing everyday family moments were taken away – all because of one tiny change in his DNA.

We refused to believe there was nothing we could do. With only about 400 diagnosed cases worldwide, CTNNB1 Syndrome was too rare to attract funding from pharmaceutical companies. That meant if we wanted to find a treatment, we would have to fight for it ourselves.
 
We started learning everything we could about the CTNNB1 gene – what type of mutation Urban had, whether it was loss-of-function or gain-of-function, and what that meant for potential treatments. We discovered that CTNNB1 was an excellent candidate for gene therapy, a revolutionary approach already showing incredible results in similar disorders – children learning to walk and speak for the first time.
 
Špela, a researcher by training, began diving deep into every published study on CTNNB1. She attended gene therapy conferences, connected with experts, and reached out to more than 200 researchers worldwide asking for help – all while raising two children under the age of three and working full-time.
 
Within just two months, we had assembled an international team of scientists ready to develop a gene therapy – not only for Urban, but for every child living with CTNNB1 Syndrome. Today, that therapy is already in development. Its potential extends far beyond Urban, offering hope to children around the world affected by this rare genetic condition.
 

We believe that luck favors the brave. Even in moments of fear, doubt, and exhaustion, there is nothing more important than giving Urban the best life possible. We have the science. We have the team. And we have hope. Now, we just need a little luck to turn that hope into reality.