Elsie is from Greenville, South Carolina and was diagnosed with SYNGAP1 in July of 2020. She will be 3 years old in May (2021). She does not currently have an epilepsy or autism diagnosis, but we are continuing to monitor and evaluate for both.
We first noticed delays before Elsie’s first birthday. She was not crawling, talking, or walking and was not interested in solid foods. Elsie was diagnosed with global development delays and failure to thrive and began PT, OT, Speech, and Feeding therapy just after her first birthday. In the search for an answer to these delays, various lab tests were performed, all coming back normal. We were referred to an endocrinologist for further testing as well as a neurologist where Elsie was given a brain MRI. All normal results. We were then referred to genetics where Elsie was given Chromosomal Microarray testing, results still coming back without an answer. Finally, through Whole Exome Sequencing, we found that Elsie has a genetic mutation on the SYNGAP1 gene. With this result came both relief for an answer and immense grief of what the future holds for Elsie.
Each day is a challenge with SYNGAP1, but with these challenges comes tremendous joy. We have truly learned to celebrate the small things. We celebrate Elsie’s milestones in her own timing. Elsie is currently able to walk short distances with assistance, she is working hard to learn to walk independently. She is not yet able to speak, has poor coordination, and still struggles with eating. Elsie loves to swing, go for walks in her stroller, she loves bath time, books, her big sister, Ivy, and watching her favorite shows. Elsie is affectionate, loves big squeezy hugs, she can be silly and loves to giggle.
We have big hope that we can work towards finding a treatment for SYNGAP1 in her lifetime to improve her quality of life. We are so very grateful to have found a community of support from other SynGAP parents.