4 years old
Montevideo, Uruguay
Warrior #222
Martina was born during the COVID-19 pandemic; she turns 5 on August 29th. At 9 months old, we noticed certain signs that raised our concern: lack of response to stimuli, strabismus, and motor difficulties. The pediatrician immediately referred her to a pediatric neurologist, beginning a long process of various tests (MRIs, several EEGs, hearing tests, and eye exams), all with normal results. However, the signs of developmental delay were evident. That was the beginning of our one-way journey, uncertain, filled with worry and anxiety.
Since then, Martina has continuously followed an intense therapeutic process that includes physical therapy, which she completed at 18 months, speech therapy, psychomotor, occupational therapy, and equine therapy—treatments she thoroughly enjoys. Despite her progress, she continues to have significant language difficulties; she babbles, wears diapers, and exhibits episodes of self-aggression when she is unable to communicate clearly. She currently does not experience major sleeping or eating problems.
2024 was a year full of emotions. In July, due to her presumptive diagnosis of Autism Spectrum Disorder (ASD) and demands such as having a therapeutic companion and reduced hours due to a lack of trained staff, she was dismissed from the MSP (Ministry of Public Health) kindergarten where she had attended since her first year. This situation, experienced as an act of discrimination and lack of empathy, led us to an exhaustive and unsuccessful search for weeks looking for an institution that would accept her. Finally, Garfield School accepted her mid-year, without any exclusionary conditions, bringing us great peace of mind and happiness.
In November 2024, after a third genetic study, she was diagnosed with a mutation in the SYNGAP1 gene. The geneticist reported that only a few cases were known worldwide. There is no known cure, and the only medical recommendation was to continue with therapies and prepare for an uncertain outcome. We were devastated. There was nothing we could do to change that. It took us many days to process this overwhelming information. Then, we started to visit many other specialists, including a physiatrist and an orthopedic surgeon, and everything came back normal.
We did not stop with the genetic results; we looked for international support. Thanks to a group of families and professionals in Argentina, the US, and other countries, we realized that the episodes of sudden absences and falls that Martina was suffering were tied to untreated epileptic seizures. The communication and contact from several people abroad were immediate, which particularly moved me to share. We also had a virtual consultation with a geneticist in Argentina, who suggested another genetic study using the Sanger technique, which we are currently in the process of doing.
In Uruguay, this approach has not been considered. No SYNGAP1 patient has been registered in any health system of this country, reflecting the local backwardness and lack of knowledge about this syndrome, It made me felt helplessness and loneliness. Her inclusion in the National Plan for Rare Diseases of the B.P.S. was even rejected for not meeting certain pathological criteria and requirements, despite being the only confirmed case in Uruguay.
Martina has an enthusiastic life, and she is improving positively. She enjoys the outdoors, music, TV, the beach, traveling, animals, and she loves the pool. She seeks out her peers, but she is still struggling with social skills. She has a strong and very special connection with one of her brothers (Agustin) – we are so proud.
As parents, our commitment is to provide her with every possible opportunity for her development, well-being, and love. We ask for empathy, institutional support, awareness of her diagnosis, and new therapeutic opportunities that will improve her quality of life.
We appreciate the opportunity to share our story and remain available to connect with the international networks that warmly support us on this journey, collaborating not only with the human aspect but also with dissemination, awareness, and emotional support.
