Jocelyn was diagnosed with SynGAP1 in January of 2021. She is nonverbal and does not walk yet. Unfortunately we live in a small town in Kansas and we do not have a lot of resources here which means she has yet to start speech, occupational, feeding, or physical therapy.
In October of 2020, her MRI findings showed she was majorly delayed as this was prior to her SynGAP1 diagnosis. In the beginning of November, I started seeing her look like she was sleepy even after she had just woken up. For a while I thought she was just tired until she did it more frequently. Jocelyn would stand in her crib and then just drop. Of course after noticing this, I did some of my own research and decided she was most likely having seizures. I called her neurologist and told her what was going on and so we eventually hopped into the car for an 8 hour drive to Kansas City to Children's Mercy Hospital. After an EEG, she was diagnosed with epilepsy. Jocelyn suffers from drop seizures.
We are thankful to currently have Jocelyn’s seizures under control. Next we are hoping to find a way to get all the different therapies she is in need of.
Overall, Jocelyn is a very happy little girl. Her smiles and laughter just make me so much stronger and know that I have to keep fighting to get the help that she needs. She loves being outside, going for car rides, and being with her older siblings. Jocelyn does crawl and can get up and down from the couch. I try my best to walk with her around the house as much as I can as she needs full assistance. Her sleep schedule changes every 3-6 days. As she has minimal communication skills we have to guess when she is hungry, needs changing, etc. I hope that one day she will be better able to communicate her needs with me.
I love my precious daughter very much and I hope to find out more about Syngap1 as we are only at the start of our diagnosis journey.