Hattie was diagnosed with SYNGAP1 in May 2021. Since she was a baby, Hattie struggled to meet her mile-stones, and we started working with therapists at 13 months. Specialists diagnosed Hattie with global developmental delay at age 2, and deemed that she did not fall on the autism spectrum because of her desire to be social and the eye contact she would make (a common misconception). By the time Hattie was 4, we were not convinced that this was the case. A friend encouraged us to seek a second opinion from a child psychologist, and Hattie was diagnosed with ASD in December 2020. We decided to take things a step further, and elected to get full exome sequencing because the limited panel of genetic testing that her doctors gave her came back normal. Soon after receiving her SYNGAP diagnosis, her epilepsy diagnosis shortly followed. Hattie was having countless absence seizures daily that we were not picking up on because they would be as unnoticeable as quick eye blinks or briefly staring into space. Doctors told us these episodes were related to her motor processing delays, but therapists at school continued to make us aware of these spells. Hattie also struggles with nightly sleep disturbances that we were told were because of the manner in which she falls asleep (with mom in her room), but we now know she is likely having seizures in her sleep. Epilepsy was confirmed with an EEG on her 5th birthday.
Hattie adores puppies, jumping on the trampoline with her brothers, and spending countless hours watching Moana. She lights up a room with her sunny disposition, and is extremely mellow (especially compared to her rambunctious brothers). She is able to communicate her needs to us in 2-4 word phrases, and continues to expand her vocabulary through speech therapy. She is working to learn to use eating utensils, and we are currently working on teaching her to ride a bike with training wheels. Hattie goes to a therapeutic preschool that we believe has changed the trajectory of her development. The ABA therapy she receives there has been paramount. They have her almost potty trained, and are working on teaching her social skills.
Receiving Hattie’s SYNGAP diagnosis was an unbelievable relief for us. It not only answered so many questions, but we were welcomed into the most warm and loving community of other families. While there are not any other known Syngapians here in Kansas City, we have been able to connect with other families while on vacation. The feeling of meeting others like our Hattie has made us feel that we are not alone in this very special journey. We are so hopeful and encouraged that with awareness, research, and all the incredible advances in science and technology that we will find a cure.
We can use your help to raise awareness about SynGAP1.