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Minnesota, USA
7 years old
August 12, 2020

Isabella

Isabella was given a Syngap1 diagnosis in March of this year. She was first diagnosed with epilepsy at about 18 months. Our first clue something was off was a delay in walking despite being quite strong. I kept asking her pediatrician and he would say, “She’s a redhead, they are stubborn.” Then she started having eye rolls and flutters when she was eating. She would choke on her food.

We have tried so many meds, the ketogenic diet, and  CBD oil. Bella was also diagnosed with Paroxysmal Tonic Upgaze, but never really treated for that as most doctors and neurologists don’t know much about it.

The neurologists kept telling us they thought she had a syndrome that hadn’t been discovered.

She has had speech therapy, occupational therapy and physical therapy off and on since her diagnosis of epilepsy. When we read the symptoms of Syngap 1 it was almost like reading a diary of her life!

Bella loves music, swimming, swinging, baby dolls, watching TV, playing outside, and riding her adaptive bike. You can’t ever go too fast for her. The faster a ride the happiest she is.

She struggles with sensory issues (SPD), talking and learning. She is very friendly, but can have horrible fits. Her “weird” sensory issue right now is licking (which drives mommy crazy). She doesn’t like transitions but once dressed for example, she is fine. She would live in Under Armour clothes if I let her.  She isn’t potty trained which is our number one goal for 2020. She uses some sign language for communication (I was a sign language interpreter before staying home with her full time), some talking and we just got her a communication device.


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