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STXBP1 genetic syndrome

STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders. It is a very rare disorder affecting most important brain functions. The mutations of the gene may manifest as neonatal epilepsy, global delay, cognitive impairment, autism, movement disorders and Cerebral Palsy.

Read below the story of Davide who was treated by the First-Step therapy.


THE STORY OF DAVIDE

Davide was born in 2013, after 42 weeks of pregnancy in a caesarean delivery,  in Switzerland. Since his birth, he suffered from epilepsy attacks and a couple of months later he was diagnosed with a mutation of gene STXBP1, which is a rare disease influencing  brain functions. He was also diagnosed with hypotonic tone.

When the family met the First-Step therapist Shai Silberbusch for a first assessment, Davide couldn’t sit, hold his head up and lay on the stomach without assistance. 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, first focus was on major aspects in his development – sensory, motor, communication, balance and vestibular system. After this two-week intense therapy process, the family received a program of daily exercises aiming at the continuation of the process at home with parents. During their 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, 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, which 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” – Diego and Damiana, Davide’s parents.

 

More on First-Step Therapy for children with STXBP1 genetic syndrome