Margot was born healthy with no complications in 2021. At 3 months old, she started having focal seizures and needed genetic testing. The testing revealed a diagnosis of a new de novo mutation in the SCN8A gene. Margot is the only known patient with her specific mutation, making her nano-rare.

Since diagnosis, Margot has developed infantile spasms, a catastrophic type of epilepsy. She has been on 11 anti-epileptic drugs, but still has up to 80 tonic and clonic seizures a day. The SCN8A gene regulates many functions that involve the brain. As a result of her mutation, Margot’s muscles don’t work well either: she has low muscle tone and cannot control her head or sit up. She also has cortical visual impairment, meaning her brain cannot process visual input, and has trouble seeing. Margot powers through 7 hours of therapy each week to work on various skills and strengthen her body.

n-Lorem brings Margot’s family hope for their precious baby girl and for all other patients affected by nano-rare diseases.