Parents Take Action After SYNGAP1-Related Disorder Diagnosis

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With SYNGAP1 Awareness Day coming up on June 21, Global Genes offered SynGAP Research Fund the opportunity to use their platform to raise awareness. SRF reached out to our new Volunteer Coordinator, Zoe Bailey, and she agreed to write about her family. Zoe and her husband Earl reside in Fairfield, California with their two daughters Kaia (3) and Harper (1). The Global Genes copy of this blog is here.

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; 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.

The moment we received the email that Kaia was diagnosed with SYNGAP1, our entire world changed. Within days, we connected with the SynGAP Research Fund (SRF). It took more than a year to catch our breath; however, the second we accepted our new reality, SRF embraced us. SRF has been an unmatched support system with an incredible team working on treatments and therapeutics for our sweet baby.

Leaning deeper into acceptance while also being brave and strong enough to hold hope that our baby will have the opportunity to be cured, has lit a fire in us. We recently participated in the Children’s Hospital of Philadelphia,Natural History Study through the ENDD Clinic. We also finished our first Sprint4Syngap fundraiser and raised a little over $6K while raising awareness in our community.

Both Earl and I now volunteer with SRF. We understand that to help fund the research for a cure, there is much work to be done. As a Licensed Clinical Social worker by trade, I am well-versed in advocacy, case management, navigating systems, and providing social/emotional support. These skills will help me in my role as Volunteer Coordinator and State Advocate Lead (California) to connect newly diagnosed families with resources needed to navigate the challenging path of being a special needs parent.

Earl will soon be joining SRF’s Diversity, Equity, and Inclusion Board to do what we can to find and help families of all backgrounds through their journey living with SYNGAP1. SynGAP Research Fund understands that the population of those diagnosed with SYNGAP1-Related Disorder underrepresents patients of color, and this board will hold SRF to the highest standard in diversity, equity, and inclusion.

We are ever so grateful and honored that we get to be a part of this family-led group of MIGHTY folks dedicated to creating community and finding a cure for SYNGAP1! We are hopeful for a bright future for Kaia, Harper, and our family. SRF has given us newfound peace, strength, and purpose; for that, we are eternally grateful.

SynGAP Research Fund is a 501(c)(3) public charity incorporated in 2018. Its mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies, and support systems. Completely family-led, SRF is the largest non-government funder of SynGAP research with over $5.75M funded to date.

Read Kaia’s Warrior Story here.
Zoe’s SRF Bio is
Learn more about the SynGAP Research Fund at
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