Davide – Born November 2013 in Zurich, Switzerland – STXBP1 genetic syndrome

Davide is a child of two and half, from Switzerland. Salerno 2
Originally his family was from Italy. He was born after 42 weeks of pregnancy in a caesarean delivery. Right from the start, he suffered epilepsy attacks. A few months later he was diagnosed with a mutation of gene STXBP1 which is important for brain functions. It is a very rare disease, and only 40 cases have been found in the world. He was also diagnosed with hypotonic tone.

When the family met Shai Silberbusch for a first assessment, Davide couldn’t sit unassisted, couldn’t hold his head up, and lying on the stomach was very difficult for him. Supported by the AEMO Association, the family began a therapeutic process with First Step that entailed one week of therapy in Italy, and one week of therapy in Tel Aviv. During the therapy process, we focused on a few major aspects in his development – motor, communication, balance and vestibular system, sensory etc. The family received a program of daily exercises to work with him at home. During their July summer holiday in Italy – they had another 3-week therapy with a First Step practitioner who helped them to implement the therapy together with all their extended family in Southern Italy.

“Davide has made some important progresses,” say Diego and Damiana – his parents. “He’s holding his head much better, and his balance has improved tremendously. We have been welcomed by a very good team of therapists, headed by Shai, that guided and supported us through the process. As a family we’ve learned so much, and Davide has made lots of improvements. We are also aware that the journey ahead is still long, and we need to have perseverance and patience”