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Personal Stories > Sean’s Story
 

Sean’s Story

Ear-to-Ear Smile

Everyone who knows Sean Matthew Rabus loves his ear-to-ear smile and infectious laughter. They appeared soon after he was born a healthy baby and continued after he and his family began fighting to cure his epilepsy against all odds.

At 7 months old, Sean started having spasms. His pediatrician said it was just his nervous system developing, but his parents sought a neurologist’s opinion. On a Wednesday morning, Sean had an abnormal EEG and was immediately admitted to the hospital. He endured a CAT scan, an MRI, a spinal tap, and blood draws, never crying once. Less than eight hours after his first EEG, Sean was diagnosed with Infantile Spasms (IS) and began taking adrenocorticotropic hormone (ACTH) medication.

The next question was what caused his IS? Initial testing indicated that Sean may have a genetic disorder, and genetic testing confirmed it. Sean has Menkes disease – a copper absorption disorder almost always terminal by age 3.

Sean’s parents rushed to contact the premier Menkes doctor in the U.S. and the only drug company producing a therapeutic treatment. Sean was granted emergency compassionate access to copper histidine. Still awaiting FDA approval, this medication is the only therapeutic treatment to help kids with Menkes resume development. Sean’s IS stopped for a while after his initial treatment but returned later that fall – round two of ACTH. Sean has always been a fighter and once again laughed when his mom gave him daily injections. His smile disappeared while he underwent ACTH treatments – perhaps the most challenging thing for his parents during that time. But the return of his smile in December 2019 showed his never-ending resilience to fight his epilepsy and his Menkes.

Sean is now 3 1/2 years old, and his recent EEG registered no seizures – a major milestone. He loves Curious George, Cars, gear toys, and playing with his best friend and little brother, Danny. He can control his head, he’s working on sitting and putting weight into his legs, and he communicates using eye gaze. Sean’s parents speak about when, not if, he will talk and walk, believing there’s nothing he can’t do. Sean works hard every day with his team of therapists; his nanny, Maggie; and his extended family to develop his abilities. There are no organizations dedicated to Menkes research, so his parents are especially grateful for CURE Epilepsy’s unwavering commitment to curing seizure disorders, allowing kids like Sean to grow and thrive.