Stronger Than SCN8A-Related Epilepsy: Sibby’s Story

Jen and Evan were thrilled to learn they were expecting their third child, Sibylle, or Sibby for short.

As with their other pregnancies, they opted to perform prenatal genetic testing, an optional screening, and the results were typical.

Sibby’s medical journey began when she was born in August 2022. After a brief stay in the NICU, Jen, Evan and Sibby headed back home to join her siblings as a new family of five. Between moving states and settling in with a newborn, Jen and Evan were certainly kept busy during this time. During the winter of 2022-23, however, they noticed that Sibby was falling behind on her developmental milestones and sought care at another medical facility near their home.

After some initial testing, Sibby was diagnosed with infantile spasms, a form of epilepsy that affects children under the age of 1, and more testing was performed to make an official diagnosis.

After more than a year of genetic testing, Sibby was diagnosed with SCN8A-related epilepsy, a rare disease that affects how the body uses sodium within the nervous system. Sibby is unique because she is the only known person so far with her variant of the gene.

“There is no cure for SCN8A-related epilepsy, however, we are able to monitor and treat Sibby’s orthopedic conditions related to her new diagnosis, specifically scoliosis and hip dysplasia,” said Bethany Lipa, M.D.