Parents Take Action After SynGAP1-Related Disorder Diagnosis

June 16, 2024

Zoe Bailey is the Volunteer Coordinator for SynGAP Research Fund. and mother to Kaia, who was diagnosed with SynGAP1-Related Disorder when she was almost two years old. To recognize Syngap1 International Awareness Day on June 21st, Global Genes asked Zoe to talk about the diagnostic journey for Kaia, and her progress to date. The genetic address of Syngap is 6p21. 32, so Syngap Awareness Day is recognized around the world on June 21st.

Kaia was born in July 2020 and thrived in a COVID-conscious, isolated world. Despite slow weight gain and delay in meeting developmental milestones, her pediatrician dismissed concerns. When she was one, Kaia spent time with a peer in childcare. Her delays were undeniable – she was not walking, or babbling, and her comprehension was far behind the norm. Despite these signs, we clung to the belief Kaia was simply a late bloomer, influenced by our pediatrician’s reassurances.

At 18 months her pediatrician suggested that we get her assessed by our local regional center. This was heartbreaking news for us, and the first of many times we would be overwhelmed with the fear of Kaia’s well-being. Assessments from several therapists were a gut punch, as there were some areas in which her development was at a six-month-old level.

Kaia took her first steps when she was 22 months old and just before her sister Harper’s arrival, an extremely special memory. A neurologist mentioned genetic testing, but due to progress (albeit slow, Kaia’s progress still reassured us), a lack of known treatment options if a diagnosis was found, and the fact that the neurologist didn’t push for it, we opted against testing. We focused on Kaia’s existing therapies (OT, PT, Speech).

At the beginning of 2023, we had a newborn, moved to a city where we knew only a handful of people, and became first-time homeowners. Kaia continued to have severe delays across the board, and her differences were becoming more and more pronounced. We finally arranged a genetic test. When the results came back with a diagnosis of SYNGAP1-Related Disorder in March 2023, we were shocked. 

Since then, we have undergone several overnight EEGs and two qEEGs. While no seizure activity has been detected, many Syngapians start having seizures around her age, so we will continue to monitor with regular EEGs.

We relish the bright moments every day. Kaia verbalizes about seven words and knows many signs – even more than we do, which can be frustrating for all of us. Her challenges with dexterity make sign language difficult. While she still has an unsteady gait, she recently began running and loves jumping with both feet in the air! Kaia longs to be socially accepted but does not always know how to engage in ways that her neurotypical peers respond well to. Once in a while, a peer embraces her and we treasure their connections.

Kaia loves the water and recently started private swim and adaptive gymnastics classes. Kaia’s laughter, smile, and ability to connect give us life! Kaia loves deeply and connects with those who put in the time and effort to get to know her. Kaia is an expert flipper on her gymnastics bar, bursts into laughter when playing peekaboo, and exudes enormous pride when she can verbalize and be understood. 

See Kaia’s story on Syngap Research Fund website

Zoe and her husband Earl reside in Fairfield, California with their two daughters Kaia (3) and Harper (1).

Stay Connected

Sign up for updates straight to your inbox.