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.

In December 2023, Sibby and her family came to Shriners Children’s Philadelphia for her first appointment. During that appointment, she was evaluated for her physical disability and from there, as part of our wrap-around care approach, a care plan was put together including many of our in-house orthopedic specialty departments.

Sibby’s care team is led by Bethany Lipa, M.D., and other orthopedic providers within our cerebral palsy clinic. It also includes the Pediatric Orthotic and Prosthetic Services team to provide custom-fitted braces for proper support and alignment of her feet and ankles, physical and occupational therapy, and our wheelchair and seating specialist, who, alongside one of our vendors, gave Sibby her own custom pink wheelchair. “Because every girl needs a Barbie dream car,” said Evan, Sibby’s father.

Now 3, Sibby returns to Shriners Children’s Philadelphia every six months for an evaluation of her spine and hips to monitor for changes in her scoliosis and hip dysplasia.

A Family Connection to Shriners Children’s

Jen and Evan are so incredibly grateful to members of Shriners International, the fraternity that supports the Shriners Children's healthcare system. What makes their connection even more special is that this past summer, Sibby’s great-uncle Roy was able to make his first trip to Philadelphia through the transportation program, driving Sibby to her appointment.

“Knowing that Shriners Children’s is part of our team is a blessing in itself,” said Evan.

At Shriners Children’s, every patient receives their own wrap-around care plan. From routine to rare conditions, our team is here to help children thrive. Learn more about the specialized care that Shriners Children’s provides.