September is STXBP1 awareness month.
STXBP1symptoms can include Epilepsy, Global Delay, Cognitive impairment (mild to profound), Movement Disorders, and Autism.
STXBP1 changes impair the vesicular release of neurotransmitter along the synapses. #epilepsy #autism
During the 2017 Disorder: The Rare Disease Film Festival several patient advocates and caregivers sat down to share their experience including leaders in the STXBP1 org Melissa Hioco and Charlene Son Rigby. The film covers 8 different rare diseases. It will be screening at #GGSummit22 in San Diego in two weeks.
Also screening there is a brand new film on STXBP1 by @Bo Bigelow called Together We Travel, A STXBP1 Journey. #STXBP1
You can watch Bad Days, Good Days, Rare Days below:
ββββββ
------------------------------
Daniel DeFabio
Global Genes
Director Community Engagement, Global Genes
------------------------------