Posted on:

3 years old
Fairfield, CA

Kaia was born in Oakland, California in July 2020 after a typical pregnancy and an uncomplicated birth. COVID shutdowns were in full effect. The world was scary but Kaia helped us create the sweetest most loving utopia and escape from the outside world. Friends came over but stayed outside and far away from us. Only a few family members came and very sparingly. We took walks but kept extreme distance from others. Looking back, this level of isolation allowed us to stay in our naive bubble that Kaia was developing on track.  She was within the normal range of weight and height, however her weight gain in infancy was slow. She loved nursing and also loved food – so again, we did not worry. Her doctor never raised any red flags about weight but we continually noticed that she was slowly entering a lower and lower percentile of weight gain. This is one of many things that we think back on now as signs of concern but at the time we brushed off. As parents we often find ourselves excessively worrying, and many times our worries were grounded in things that were nonsense. In this situation, the slight worry was there, but maybe the overarching denial was a protective measure for our hearts. 

Around the age of 1, Kaia and another 1-year-old started spending days with Kaia’s paternal aunt who was caring for them while we worked. This was another time there was no denying Kaia was not anywhere near the level of development as her peers. However, since our pediatrician was not worried, we held onto the fact that our sweet Kaia was just a super chill and late blooming baby. At this point, she was not walking, not making many sounds, not understanding commands or instructions and only sometimes responding to her name.

At 18 months her pediatrician expressed concern and 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. This is now a feeling and reality we’ve learned to live with everyday. 

Getting her assessed by an occupational therapist, developmental specialist, speech therapist, and physical therapist was a gut punch as there were some areas in which she was registering the same developmental level as a six-month-old.

We got Kaia into a preschool that had specialized services and it was a beautiful experience. She’s just so lovable, happy, easy-going and absolutely loves to connect to others. She was a class favorite!!

At this point we were well into our second pregnancy. Our second daughter, Harper was born one month before Kaia’s second birthday. Kaia started taking her first steps a couple months before Harper was born. We were in awe and proud of all of the hard work and effort she put into this amazing milestone! There were many days that we feared this day would never come.

During that pregnancy, we were connected with a neurologist for Kaia. The neurologist said that there was an option to do a genetic test to see if a genetic condition could be contributing to Kaia’s delays and hypotonia. Not thinking much of it at the time, we interpreted it as a way to check that cause off the list, rather than an opportunity to find an answer. Kaia continued to make slow progress but progress nonetheless- which is why the neurologist was not pushing that option. She shared that realistically, if anything showed up on the genetic test, there wouldn’t be any other interventions other than the OT, PT and Speech which we were already doing. We opted not to do the genetic test at that point. We already had so much going on as we were moving to another city, about to have our second child and still dealing with everything related to Covid. 

At the beginning of 2023, Kaia continued to have severe delays across-the-board and her differences were becoming more and more pronounced. We finally agreed to the genetic test and in March 2023, when we were given the diagnosis of SYNGAP1.

We are writing this more than a year after the diagnosis. In 2023, our family was in total disarray. We had a newborn, moved to a city where we knew only a handful of people, became first time homeowners and spent too much time googling every detail of the scary future that could be ours. The news of the diagnosis was absolutely the biggest trauma we’ve ever experienced. 

However, while the grief and fear is steady in our hearts, we’ve entered a new chapter of acceptance and altered expectations. We met two incredible Syngapians; Grayson and Tony, as well as their beautiful siblings and parents. The isolation that we felt is now being met with beautiful souls and others part of the SYNGAP1 community. They are embracing us while giving us strength and hope. 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.

As a family, we have struggled with the idea of managing Kaia’s aggression and self-injurious behaviors with medication. We are currently working on getting her an Autism diagnosis so we can start ABA interventions. We are slowly but surely learning that being flexible, doing our own research, and challenging much of what we thought was ‘right’ parenting, have been necessary in navigating this new path.  

Kaia is such a special soul. Her and her sister Harper light up the world in an unmatched and absolutely beautiful way. Kaia goes to special education preschool 5 days per week. She receives school based and private occupational therapy and speech therapy as well as insurance based physical therapy. She has about five verbal words and lots of signs. She does more signs than we even understand which can be frustrating for both of us. Kaia continues to wear DAFO orthotics to help with her pronation. While she still has an unsteady gait, she recently began running and loves jumping with both feet in the air! Kaia has a longing to be socially accepted but does not always know to engage in ways that her typically developing peers respond well to. However, once in a while, a peer who is warm and kind and accepting, embraces her, and we could not be more grateful for them! 

At this point, we have undergone several overnight EEGs and no seizure activity has been detected. We know that many Syngapians start having seizures around 3 or 4 so we are keeping a very close eye and will continue to have EEGs every 6 months for the time being. 

Kaia is absolutely obsessed with Ms. Rachel and she even calls her ‘mama’.  Kaia loves the water and recently started private swim and an adaptive gymnastics classes. Kaia is extremely curious and intrigued by dogs, she’s also mostly petrified of them- except if they are calm and don’t bark or make sudden movements. Kaia’s laughter and smile and ability to connect gives us life! Kaia loves deeply and is able to deeply connect with those that put in the time and effort to really 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 is able to verbalize and be understood. 

We are hopeful for a bright future for Kaia, Harper and our family as a whole. SYNGAP Research Fund (SRF) and the Syngapian community have given us newfound peace, strength and purpose; for that, we are eternally grateful.