Celia was diagnosed with Syngap1 at 17, by chance, after her participation in a study done in a hospital in Barcelona. Prior to that she had undergone many tests with no results. When she was much younger (5-6 years) Celia went to many hospitals in the US to try and get a diagnosis but nothing came of it at the time. But now that we have a diagnosis we are receiving great help from our local neurologist who specializes in epilepsy.
Celia has no verbal communication, only 4 words, motor problems to walk, severe intellectual disability, severe disruptive behavior and she is very sensitive to stimuli.
Until she was 19, Celia attended school in a special needs classroom. Unfortunately her seizures have prevented her from attending school regularly. Celia suffers from generalized, drop, and myoclonic seizures.
The key to keeping Celia happy is maintaining an active lifestyle. Walks, swimming, going to the beach, are all activities she enjoys doing regularly.
When she was younger she traveled a lot with the family but now it is not possible due to behavior. She likes going for a ride in the car and loves getting into buses to go to the city center. Celia has always kept up a heavy therapy schedule as well.
She loves music, dancing, using make-up, dolls, using her ipad for music, etc. She communicates in a very effective way trying all the strategies she has (signing, inventing her own signs, pulling other’s people hands), she is very energetic and seems happy all the time, she needs a friendly environment and no stress at all.
She is under strong medication in order to control behavior and epilepsy. Medication apparently produced ammonium high levels in blood, during the last year she is having difficulties for walking and we have to use a wheelchair frequently. However, in the last two weeks she is gaining some strength after some drug changes.