Daphne is 4 years old – she has been diagnosed with PTEN since she was just over one although they knew since birth that she had a genetic condition. She was born 11 weeks early and weighed only 2lbs. She had a white birthmark extending from the tip of her nose to her forehead, as well as an odd linear sebaceous that made the doctors in the NICU take a closer look during initial exams.
They found multiple brain malformations, which were more clearly identified when she was large enough to handle an MRI. Her malformations are polymicrogyria (right frontal lobe), hemimegalencephaly, and agenisis of the corpus callosum. She started having seizures at 1 month old, and these progressed to infantile spasms, which she is still treated for today. She has several diagnoses due to her condition including hypertonia, global developmental delays, kidney stones, lipomas and other benign tumors.
She started walking just before she turned three and has a communication device that she is quickly progressing on using in addition to sign language for communication. She is a smart young lady who loves school, cartoons and getting messy. She is brave, strong, and we are very proud of her.
