9 years old
Buenos Aires, Argentina
Warrior #225
Emma (Emmita) was born on November 1, 2016. She’s a very sweet, super loving, and active little girl. This year she started a special school, which marked a turning point in her life. The changes she’s made since changing schools have been enormous, in her learning, behavior, and especially her independence.
Emma was diagnosed with SYNGAP1 in March of 2024. Until then, we had never heard of the condition. We had received previous diagnoses since we began noticing delays or anomalies in her development, such as specific language impairment, pervasive developmental disorder, Asperger’s, and autism. But none of these diagnoses fully explained to me, as her mother, why things were complicated or different with Emma. That’s why we continued the search until we finally arrived at the much-desired diagnosis.
Emma’s gross motor skills have improved significantly; her gait is more steady and less unsteady than before. She swims very well—in fact, she loves to swim. After her diagnosis, she began equine therapy, which has been incredibly helpful because it has dramatically improved her confidence in performing tasks and actions she was previously afraid of. Her fine motor skills are still well below what is expected for her age, but she has been progressing little by little.
She speaks mostly in single words and has difficulty pronouncing certain letters, which means she can’t pronounce some words correctly, but she is still understandable. To date, she has not shown any symptoms of epilepsy, which has greatly helped her progress. The biggest challenge we face today is her sensory overload seizures. These have become less frequent thanks to her development and because she is on CBD treatment (as recommended by the neurologist). Even so, when something disrupts her routine and structure, she tends to become overwhelmed and have a seizure, which she now always does at home with me.
Emma loves thrills: she absolutely loves going down tall slides, water slides, zip lines, roller coasters, and all those kinds of rides, not caring if she gets hurt in the process. She goes repeatedly. She loves nature: being in the water is her favorite thing to do. Even before her diagnosis, I always told her she should have been born a fish because in the water, she’s a completely different child. Water even helps calm her outbursts (most of the time).
Emma came to teach me so many things, open me up to new ideas and to an atypical, different, but no less special kind of motherhood. Her smile when she achieves something, her excitement when she does what she loves, and every time she comes and says, “Thank you, Mommy, I love you, Mommy!” makes me feel that everything is worth it and makes me never want to give up fighting for her!
Sabrina Valdez (Mom).
