(Pictured) Anna with her dog, Rachel.
Anna Lives Life to the Fullest Years after Dravet Syndrome Diagnosis
Anna Mimms, 25, was 11 months old when she suffered her first seizure. It lasted for over 45 minutes and, unlike most seizures, did not end on its own.
Her mom, Angie, took Anna to a nearby Northern Kentucky emergency department before eventually being transferred to Cincinnati Children’s for testing. After a second prolonged seizure a month later, Anna began taking new medications, but continued to have seizures over the months and years ahead.
With the support of a multidisciplinary epilepsy team at Cincinnati Children’s, Anna underwent brain surgery in 2007, which temporarily eased her seizures. The real turning point, though, came the next year.
That’s when Anna was officially diagnosed with Dravet syndrome, a rare form of epilepsy that affects one in every 15,000 children. Dravet syndrome usually presents in the first year of life with prolonged seizures that are difficult to control with medications. The diagnosis was a breakthrough moment, allowing Anna to receive a personalized treatment plan—including medications—that met her specific needs.
“It was a long journey with lots of different medications and treatments, but once we got the Dravet syndrome diagnosis, there was one specific medicine, stiripentol, indicated specifically for this syndrome,” said Angie.
Number of Seizures Drop Drastically
That new medicine, along with a specific set of other anti-seizure medications (ASMs) did the trick: Anna went from having 428 seizures in 2008 to 125 in 2009, with the numbers continuing to decrease every year.
During one incredible period, she went almost three years completely seizure-free.
“Anna lost a lot of life for a long time. These new treatments gave her life back,” Angie said. “That was the turning point. And it’s come a long way since. Children with Dravet syndrome may do better now because it’s more known. A lot of people have been working hard, and we’re so grateful for these therapies. It saved her life.”
Anna’s diagnosis coincided with new research into Dravet syndrome, which in 2008 was not widely diagnosed worldwide. During this time, though, research was progressing after the discovery of a genetic link to Dravet syndrome nearly a decade earlier: a gene change (mutation) called SCN1A.
“As we were doing all the treatments and testing and things not working, Dr. Franz always gave us hope that we would find something to help Anna,” Angie said. “He never gave up. We kept hitting roadblocks, and he kept looking for different routes.”
Improving Outcomes for Children with Dravet Syndrome
The goal of treatment for patients with Dravet syndrome is to improve their quality of life by controlling seizures and improving cognitive outcomes. Anna’s care team has been thrilled by her continued progress.
“Dravet syndrome is a spectrum disorder, and some cases can be very severe and hard to treat,” said Francesco Mangano, DO, director of the Pediatric Epilepsy Surgery Program. “We treated Anna more than 15 years ago, and now she’s a young adult thriving in her community. It’s one of the most gratifying things for our care team when we can eventually see our patients from so long ago being young and happy adults.”
Still commonly misdiagnosed, research continues on Dravet syndrome. As a result, more and more children are being diagnosed earlier and seeing better outcomes. Early diagnoses are essential, allowing families to address developmental concerns earlier in a child’s life when therapies are most helpful.
“The earlier children can get the proper treatment, the better they can control the seizures,” Angie said. “What saved Anna’s life doesn’t work for everyone, but there are a lot of different treatments out there.”
A New Life for Anna
Anna still has limitations, including intellectual and physical disabilities that affect her daily life, but she’s living it to the fullest: She plays Miracle League baseball, does Special Olympics cheerleading and bowling, performs in an all-abilities band at the music clinic at the University of Louisville, and she works at a chicken restaurant she adores.
“Anna loves her dog, Rachel, and she loves her birthday,” Angie added. “She loves to draw and write and has such a great sense of humor.”
Anna still has seizures. But she’s been averaging only about two per year, and they have been stopping on their own.
“We are still vigilant about triggers and a healthy lifestyle to avoid seizures as much as possible,” Angie said. “But we’re just a little family that tries to take care of our girl and plans birthday parties every year.”