DNM1L Progressive Myoclonic Epilepsy

At first, it was easy to explain away. A stumble here. A dropped step there. For then six-year-old Londyn McMiller, the falls seemed like the kind of thing any child might go through. But her mother, Shanice Bonner, began to notice something more. Londyn’s hands started to jerk unexpectedly, and small movements that didn’t quite make sense.

That uncertainty led them to Children's of Alabama, where doctors began the careful process of searching for answers. At that point, Londyn hadn’t yet had a seizure. Initial tests didn’t reveal anything definitive. More tests followed. Still nothing. They were sent home, waiting and watching.

Then, months later, everything changed: Londyn experienced her first seizure while she was asleep.

“I didn’t know what was going on,” Shanice says. “I just thought she was shaking. It was terrifying because I didn’t know what was going on—she wouldn’t respond.”

They rushed back to Children’s for further testing, but there were no immediate answers. Doctors prescribed medication to help control the seizures, but the condition continued to evolve. A few months later, after Londyn became sick, the seizures escalated into something far more serious: prolonged, unrelenting episodes known as status epilepticus.

Londyn’s care team decided at that point to bring in the genetic testing, which revealed Londyn has a rare mutation leading to a form of progressive myoclonic epilepsy, DNM1L Progressive myoclonic epilepsy.

“That diagnosis brought some clarity, but it also brought some fear,” Shanice says. “The condition can worsen over time, with seizures that grow more severe. But it also gave Londyn’s medical team a clearer path forward.”

That path forward became an adjustment of medications, at one point layering four to five seizure medications at once. Eventually, Londyn became more stable. She may go months without a seizure, and when they do occur, they are shorter and far less severe.

Though controlling the seizures was critical, Londyn’s journey at Children’s wasn’t complete. The condition took a toll on skills she once performed with ease. Before her diagnosis, she could walk, talk and move independently. Now, much of her care focuses on helping her regain those abilities.

At Children’s, she participates in an intensive therapy schedule: physical and occupational therapy twice a week, and speech therapy once a week. For Shanice, the care was immediate and meaningful.

“The therapists have been so good,” she says. “They jumped right in and began giving recommendations of what they think she needs and what needs to be adjusted for her. They’ve shown me things that weren’t being done before, and it’s helped her so much, and helped me too.”

One of the most promising tools in Londyn’s therapy journey is something she’s just beginning to explore: augmentative and alternative communication. This technology provides Londyn an alternative means of communication when speaking becomes difficult. Through weekly therapy with her speech therapist, Londyn is learning to navigate her communication device by selecting words or images on a tablet that produce speech.

Londyn currently uses touch to access her communication device, but she is also building her skills to access the device through eye gaze for times when speaking and touching the device are too difficult.  
“We’re practicing right now—it will be her first time ever using a communication device,” Shanice says. “They are training her to use it.”
For a child who sometimes struggles to get her words out, the technology opens a new door.
“It’s supposed to help her communicate if she can’t use her words,” Shanice explains. “It’s amazing. There is so much they have to help kids.”

And for Shanice, that level of care—both for Londyn and for her as a parent—has made all the difference.

“I’m so grateful for them,” she says. “They have truly saved her life.”