Mom kickstarting global movement to save her child with a super-rare genetic disorder
Urban is a two year old toddler who looked perfectly healthy when he was born, but was found to lack muscular tone, not grabbing toys, not lifting up his head, also being too slow in cognitive development, all these a couple of months into his life. What looked like cerebral palsy was diagnosed as the CTNNB1 syndrome in his 10th month. There are currently 400 kids around the world with this diagnosis, but there are probably orders of magnitude more kids with this gene defect, as most stay misdiagnosed. There is no treatment for this disorder.
And yet, Špela, Urban’s mom, decided to act. She first learned all there is to learn about the disease, attended conferences, started learning about genetic treatments. In a year since her son’s diagnosis she kickstarted the CTNNB1 Foundation, an organisation of global experts and parents, progressing at a lightning speed, already gathering 700k€ of needed 2m€, and currently already in the preclinical studies of the gene therapy candidate drug.
Špela presented this amazing story at this year’s HealthDay.si conference in November 2021. See her story here: https://youtu.be/VUmlTts5fRw?t=13438.