1-1/2 years old
Wilmington, North Carolina
Warrior #221
May 15th, 2025 … a good day that became very emotional. May 14th we received a portal message from her neurologist requesting a telehealth appointment for the next day. May 15th at 9:45 am, we received news that Charlotte has been diagnosed with SYNGAP1-related disorders.
Here is a little back history:
Charlotte is 18 months old; she is our beautiful blue-eyed girl. We live in Wilmington, NC. She was diagnosed May 15th the same day she turned 17 months. Over the last year we noticed Charlotte wasn’t meeting her milestones. Everyone said stop worrying and don’t compare her to her brother; every child is different. Deep down I knew something was different with her.
We finally got the referral to neurology. We had genetic testing, but the preliminary test came back negative. I forgot that more extensive testing had been performed. Charlotte has delays in crawling, walking, speech, feeding, motor skills, sensory issues, and temperature regulations. She has a wonderful big brother. He is her biggest cheerleader and her Hero.
When Brayden is in the same room, mommy and daddy do not exist. Charlotte’s biggest joys are seeing dogs, singing itsy bitsy spider, drinking her oat milk, and eating her favorite peanut butter snacks. She loves to smile, giggle, and clap. She loves music and trying to walk. The only treatments we’ve started are PT and OT. We are starting our journey this coming week. Our first appointment directed towards SYNGAP1 is UNC genetics this coming Friday, June 27th. In July we have several appointments scheduled for her. We are being referred to CHOP for the Clinical trial.
My advice … it’s okay to cry, be angry, ask God why, grieve the future you thought you had planned. Always, look at your precious child and know God gave you this beautiful gift, and He knew you could handle this battle. Never give up fighting – your child was given a diagnosis, but this does not define them. The sky’s the limit!!
