Martha is 2.5 years old and lives in a village of Mytilini in Greece with her parents and her sister. She was diagnosed with a SYNGAP1 gene mutation in November 2021. When she was 1 year old, we decided to go to Athena to a pediatric neurologist because we noticed that she was behind in relation to her age and something different was happening to her. After many tests, she was diagnosed with the specific mutation.
Martha suffers from epilepsy. When she was 18 months old the episodes started, she lost her senses and her head fell forward. After a year, the seizures have improved. Also, she has a motor, mental and verbal delay, so she follows a program with physiotherapy, occupational therapy and speech therapy.
Martha is sociable and she likes walks in the stroller. She really enjoys swinging. She likes animals and the sea! She is smiling and loves songs and games with sound! She also likes contact with children. Martha is still breastfeeding and that in breastfeeding she finds peace and comfort when she complains. In general, breastfeeding has helped her a lot!
We believe in her, she seems to be interacting with us and we hope that as time goes by she will continue to develop. We have hope for the future!
We can use your help to raise awareness about SynGAP1.