The patient was diagnosed with a heart defect (tetralogy of Fallot with pulmonary atresia) before she was born, which was repaired after birth. She was also found to have problems with the connection between her brain and spinal cord (Chiari I malformation) and the spinal cord itself (tethered cord). She … read more
At 13 months, the participant was diagnosed with a tumor (sacrococcygeal germ cell tumor), which was managed with surgery and chemotherapy. After receiving chemotherapy, she developed bilateral hearing loss (sensorineural hearing impairment) as well as speech delay. At three years of age she began to experience vision loss and presented … read more
The participant experienced early developmental delays. She crawled and sat independently at 9 months and had a vocabulary of 3 words by 12-15 months. However, she lost her language skills after her seizures began at 14-15 months. Her generalized tonic-colonic seizures occur about once a week in addition to more … read more
