Urban was born on the 14th of June 2019 with a perfect Apgar score. He was born as a perfectly healthy baby boy. With five fingers on each hand, and each toe and an angelic smile on his face. Like he knew he would change our world forever.
Because we already had a daughter we knew that babies should be holding their head between 2-3 months and that they should be bringing the toys in their mouths between 2-4 months. Urban was not reaching any of these milestones.
At Urban’s regular check-up the pediatrician observed that his muscle tone was extremely low tone and that he had a movement disorder. We immediately arranged appointment at the Pediatric Neurology Department. Thorough examination – EEG, MR, genetic testing, and hospitalization – revealed the diagnosis.
On the 25th of March 2020 Urban was diagnosed with the CTNNB1 Syndrome.
We did not have any clue what this mean. The only thing we knew was that if it is called a “syndrome”, this is not a good sign. We started reading the literature:
»CTNNB1 is a severe intellectual disability-progressive spastic diplegia syndrome. A rare, genetic, syndromic intellectual disability disorder characterised 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 behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances)«.
We were shocked. Urban was progressing so well that nobody worried about his intellectual development. Doctors only mentioned his motor delays. It was possible to accept that Urban will not walk. But not speaking and understanding was a completely different thing. Not hearing his lovely voice saying “I love you mom, I love you dad”. All of the fantasies about playing Monopoly and Chess or watching movies together, doing all the basic and fun stuff that families do together, were taken away in a single phone call. Because of a single letter change in his genetic material.
The first thing we learned was that if you want to do it right, you need to know the basis of the biology behind the disease. You need to know if the child has a loss-of-function or a gain-of-function, which is missense, nonsense or frameshift mutation. You need to know every detail of the mutation, so it is possible to look at which treatment solutions are better for each type of genetic variant. So, you basically need to become an expert on your child’s gene.
We learnt that the CTNNB1 gene is a very good candidate for the gene therapy. Gene therapy has already been applied to similar genetic disorders like Urban’s and the results were incredible: kids started to speak and walk for the first time in their lives.
Because Špela is a researcher, she is going through all the published studies on CTNNB1. She has attended conferences on gene therapy and is communicating with researchers around the world concerning possible treatments. Besides being a mom of two kids under 3, and having a full-time job – finding a cure became her night-time job. Špela reached out to over 200 researchers worldwide asking for their help.
Within only two months time, we have gathered a team of researchers from all around the world willing to work on development of a gene therapy for Urban and every other child diagnosed with this syndrome. At this moment gene therapy is already in the making. This treatment will not only help Urban but will have a much greater potential to impact the lives of thousands of children just like him around the world.
We have always believed that luck is on the side of those who are brave. And even when experiencing fear, insecurity, and hopelessness, there is nothing more important than helping Urban to get the best life he deserves.
We have our team supporting us and we have faith. Now we need just a little luck to make our hope a reality.