Kimberly Gauthier, from BC Canada, is the Vice President and she has a son with ASH1L difference. Kevin Prenger, from Ohio USA, is the Treasurer and Secretary and he has a daughter with ASH1L mutation. Mukti Reddy, from Toronto Canada, is the Chair of the Board and President and she has a son with ASH1L deletion. They joined hands to revolutionize the research and science involved in ASH1L. Patients with ASH1L mutation exhibit several phenotypes including, but not limited to, Autism Spectrum Disorder, ADHD, Intellectual Disability, Schizophrenia, Tourette Syndrome, Hypotonia, Musculoskeletal deformities, Sleep difficulties, GI Disturbances, Speech disorders, Feeding Issues, Hearing & Visual Impairments, Heart abnormalities. The research on ASH1L is limited and at Care4ASH1L we pledge to advance the research and provide equal access to clinical trials for those affected. We envision to build a strong ASH1L community and empower the families to advocate for their affected ones. Our mission is to have a cure for ASH1L and every interested family should get equal access to clinical trials. Care4ASH1L's agenda is to establish a Patient Registry to encapsulate the detailed information of ASH1L patients and to have a Biobank to enable access to iPSCs to researchers. Our mission is to increase awareness on ASH1L, reach out to as many researchers as possible, create a conducive and trustworthy platform for ASH1L community to network with confidence and support ASH1L researchers. Care4ASH1L wants to raise funds to support the research work which will eventually help the ASH1L patients. The disease costs and affects the quality of life. Many ASH1L patients struggle to lead a regular life and their families suffer to provide them adequate therapies. We hope with advances in research a cure could be established which can improve and ameliorate the lives of those affected. Every individual affected with ASH1L mutation deserves a life of dignity.
