My husband I thought having more children was not a possibility. That changed in 2020, when we were surprised to hear the news that I was pregnant. February 13, 2021, we were blessed to meet our daughter Eliza who is now 2 years old. It wasn't until she was a couple months old, we noticed she had some eye issues. When she reached 4 months old, we began to realize that she wasn't meeting certain milestones. We spoke to her pediatrician about our concerns, she then referred us to an Ophthalmologist and Hope services. Eliza then started to receive Occupational Therapy and Physical Therapy once a month. On May 17, 2022, we visited the Ophthalmologist, and he diagnosed Eliza with Nystagmus, Strabismus, and Anisocoria. He ordered an MRI which came back normal. He was not sure what was causing her eye issues, so he referred us to an oncologist in Stanford and a neurologist in Santa Clara. We prayed every night that Eliza would not have cancer. In July of 2022 Stanford did an MRI from the head to abdomen. The results also came back normal. Meanwhile, we seen the Neurologist and we described how Eliza would stiffen her legs when she was tired. On November 16^th, 2022, the Neurologist ordered a video EEG and results came back abnormal. Eliza was then diagnosed with focal seizures beginning in the occipital lobe. On December 21^st, 2022, we finally got an appointment to see a genetic counselor at Stanford. Eliza’s transferrin was slightly elevated for Congenital Glycosylation Disorder. At this point, it was an emotional roller-coaster for us. Four weeks later they retested, and Eliza’s results came back normal. On January 17^th, 2023, the Ophthalmologist confirmed Eliza’s nystagmus and strabismus corrected itself. We started to feel we might never find answers to what is happening to our daughter. It was the unknown that scared us the most. In early March of 2023, we had an appointment with another genetic counselor in Santa Clara.

On March 30, 2023, we received the diagnosis of Syngap1. It was heartbreaking, but we feel relieved to finally have answers.

Eliza stopped babbling and imitating words at 6 months. She is now nonverbal and is not yet walking. She started crawling on all fours at 20 months and at 21 months she was pulling to stand. In March of this year, she learned to feed herself with and without a spoon. Eliza loves her big sister Violet who is 11 and her doggy brother Wilson. She loves to cuddle and give slobber kisses. She is very social but must be the one to come up to you. She fears strangers at first until she warms up. Water is her absolute favorite! Once she hears the bath running, she comes racing down the hall. Her shape box, riding her car to the park, and Mrs. Rachel is also on her favorite list. She is a very good eater and likes to share every meal with her dog brother. Eliza does not like stuffed animals, she will whine and crawl away from them, real fast! Sometimes, she fears new sounds and new things. We just keep introducing them and she seems to do ok. She likes to make a grumpy face either when she is upset or just playing. She must fall asleep by cuddling both dad and I. Eliza is a very sweet, observant, funny, and loving girl. We believe God gifted us with her for a reason. She brings light to everyone she meets. Though, it has been a short time we have been part of the Syngap community. We feel like we have found a family, who are not only fighting for the same purpose, but are supportive and caring to one another.