Monica Weldon of Bridge The GAP - SYNGAP talks about this rare neurological condition that is linked to autism.
Monica Weldon is a rare disease advocate whose son, Beckett, has SYNGAP1. Beckett was one of the first people diagnosed with SYNGAP1. Advocacy has become Monica's platform and she believes that advocating and telling your story is one of the most important things that a newly diagnosed patient or family member can do.
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder.
For more information, visit www.bridgesyngap.org/
