The first few years of Saylor Baysden’s life involved a good deal of medical confusion. Her family pursued testing, leading to two diagnoses in 2020-21: autism and epilepsy. But her doctors suspected that there was something deeper going on, so Saylor underwent genetic testing. According to reporting from Wavy, this led to Saylor’s official diagnosis of SYNGAP1-related non-syndromic intellectual disability, or SYNGAP1. Prior to her diagnosis, neither her neurologist nor parents had ever heard of SYNGAP1. 

Now, the Baysden family is more committed than ever to supporting their daughter, the community, and the push for awareness. Right now, 5-year-old Saylor is part of a community of just over 1,000 people who have been diagnosed with this condition. But given the fact that SYNGAP1 may be misdiagnosed or underdiagnosed, advocating for families, research, and awareness is incredibly important. 

To contribute to increased education, Saylor’s mother Corey encourages other families to ask questions, do research, and pursue testing. If a family feels like something isn’t right, says Corey, go to the doctor! Keep searching for an answer. In an article for the SYNGAP Research Fund, Corey even shared resources for genetic testing. Genetic testing can be a challenging process, but it can help provide more insight into a child’s health.

What is SYNGAP1?

SYNGAP1 gene mutations lead to SYNGAP1, a rare neurological disorder caused by missing, deficient, or inactive SynGAP protein. Normally, this protein regulates synapses—the area where neurons (nerve cells) communicate with each other. When the neurons can’t communicate properly, it leads to various neurological difficulties. An estimated 1-2% of intellectual disabilities result from SYNGAP1 mutations.

Symptoms related to this condition may, but do not always, include:

• Mild-to-severe intellectual disability
• Problems with coordination
• Hypotonia (poor/weak muscle tone)
• Developmental delays and/or developmental regression
• Hyperactivity
• Autism spectrum disorder
• Visual abnormalities
• Seizures 

No cure exists for SYNGAP1 at this time. Doctors may prescribe certain treatments or specialty care—such as physical, speech, occupational, rehabilitative, and behavioral therapy—to assist with care.