When Ireland was 6 months old, she had her first generalized tonic clonic seizure, which led to an epilepsy diagnosis and genetic testing. The testing revealed a CACNA1A pathogenic variant, of which the effects have been absolutely devastating. Her parents were told that no targeted treatment options were available as she was the only known case of her unique variant, classifying her as nano-rare.

Ireland presents with cerebellar ataxia, a convulsive seizure disorder with status epilepticus, developmental delays, apraxia of speech, hemiplegic migraine, and autism. Her biggest challenge is poor seizure control, despite trying a long list of AEDs, the Modified Atkins Diet, Epidiolex (CBD) and a VNS (vagus nerve stimulator) device. Ireland’s seizures are severe, never stopping without multiple rescue medications. She can completely stop breathing, requiring immediate airway intervention and support. Ireland has been intubated 9 times for status epilepticus. Between recovering from massive neurological events and frequent medication changes, Ireland often feels pretty terrible. Her family dreams of the precious day that personalized experimental ASO medicine allows her to take steps towards returning to her sweet, happy feel-good self.

Ireland works very hard in PT, OT, Speech and ABA therapies. She is able to walk, hop, climb, feed herself, and speak in single words. She continues to make developmental progress, despite setbacks caused by seizures. She has a supportive village of family and friends who dream of a treatment to reduce the heavy burden caused by her genetic variant.