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Poland
2.5 years old
July 14, 2021

Julia

Our daughter Julia was born a seemingly healthy child. There was no indication that she was so seriously ill. Around 4-5 months of age, we were concerned that she was not holding up her head. The doctor diagnosed her with low muscle tone. We thought it was nothing terrible, a bit of physical therapy and it would be ok, but time passed and our daughter had more and more motor and intellectual delays, in the meantime she was diagnosed with epilepsy. We received the SYNGAP1 diagnosis in May 2021 when Julia was 2.5 years old. We learned that there is no cure for SYNGAP1, which was a huge blow to us and we felt a sense of helplessness. However, we have hope and deeply believe that through the SRF foundation, extensive research into the invention of a drug for SYNGAP1, treatment is possible in the near future.

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