Royal Oak girl receives ‘revolutionary’ treatment at Beaumont

By: Sarah Wojcik | Royal Oak Review | Published June 27, 2018

 The Dilley family, of Royal Oak, is photographed around the holidays in 2016.

The Dilley family, of Royal Oak, is photographed around the holidays in 2016.

Photo provided by Robert Ortlieb

 Megan Dilley, 8, and her brother,  Matthew Dilley, 9, of Royal Oak, pose for a photo earlier in June.

Megan Dilley, 8, and her brother, Matthew Dilley, 9, of Royal Oak, pose for a photo earlier in June.

Photo provided by Robert Ortlieb

Advertisement
Advertisement

ROYAL OAK — After the U.S. Food and Drug Administration approved a new medication for a rare genetic seizure disorder in April 2017, an 8-year-old Royal Oak resident became the first person in the U.S. to receive treatments covered by insurance.

The availability of the drug came as a relief to Jennifer and David Dilley, parents of Megan Dilley, whose condition worsened since she was first diagnosed with a form of Batten disease at age 4 1/2.

While not a cure, Brineura replaces an enzyme that those who have the disease do not naturally produce, effectively halting the progression of the disease.

Jennifer said her daughter suffered her first seizure at 3 1/2. 

“Around the same time, we started to notice that she wasn’t gaining new skills and new language and things,” she said. “It took a year from her first seizure to diagnosis.”

Genetic testing confirmed that Megan had CLN2, a rare brain disease.

Dr. Daniel Arndt, a seizure specialist and section chief of Beaumont Children’s Neurology Division, explained that the disease can progress rapidly and is a degenerative form of epilepsy.

“Most patients with CLN2 die by their early teens,” he said in a statement. “Before this breakthrough treatment became available in April 2017, CLN2 was always fatal.”

Jennifer said the diagnosis did not surprise her because she had done a lot of research on her own and had a feeling that her daughter might have been suffering from such a disorder.

“Obviously, it was life-changing,” she said. “Things were getting worse, and she was having a harder time walking and talking.”

Megan was diagnosed one month too late to qualify for a Brineura clinical research study, but Jennifer said they made friends with the families of the three children in the study and kept in touch.

“We saw firsthand that the enzyme replacement was working with those kids, pretty much holding where they were,” she said. “It wasn’t fixing anything, but it helped them maintain.”

After the FDA approved Brineura, Jennifer said, Megan underwent surgery to implant a port in her brain in June 2017, and in July 2017, she received her first infusion, six days after turning 7 years old.

At that point, Megan had lost the ability to walk, speak and eat, and she needed constant care.

Since Megan began receiving infusions every two weeks, Jennifer said her daughter is more emotional, smiles and laughs at appropriate things, and cries to express displeasure or pain.

“She’s more communicative in her own way,” she said. “She’s eating more by mouth and can coordinate her swallow better. She’s not walking, but she’s moving her limbs more and can pick up her head and move it.”

She said Megan just finished first grade at Keller Elementary School, where she learned with other kindergarteners, first-graders and second-graders in a classroom for students with special needs.

“She likes the same TV shows girls her age like. She loves Taylor Swift music. We have a beach house up north, and she loves to go to the beach,” Jennifer said. “She loves to be around other kids, and she loves to go to school.”

Being able to receive Brineura has been “like a ray of sun,” Jennifer said, and the family looks forward to a cure.

“We’re not spending all that time and energy pushing for her to get access to treatment. Now we can do more normal things,” she said. “Beaumont has been super helpful, and we receive treatments in the beautiful new infusion center.”

She said that for each treatment, they normally arrive around 8:30 a.m. and leave around 3:30 p.m. While Megan is not put under, Jennifer said her daughter normally sleeps the majority of the time.

Arndt said the new medication is “revolutionary.”

“These children have a genetic disease that doesn’t enable them to make an enzyme that helps break down components of nerve cells, which leads to a buildup up proteins,” he said. “Theoretically, they are halting the disease’s progress in patients. It’s a huge development.”

He said the Dilley family is “unique,” “remarkable” and “strong.”

“Both Mom and Dad have been amazing advocates for Megan and been able to get her into the right situations to get the right care,” he said.

The next step, he said, is for researchers to take the knowledge that the missing enzyme can be replaced through medication and find a way for cells to produce the missing enzyme themselves.

“We don’t have great evidence yet that this treatment can definitely reverse the course of the disease that may have progressed, but a few symptoms of patients in the clinical trials have improved,” Arndt said.

Patients experienced a decrease in seizure frequency, and some regained the ability to walk or talk over time, he said.

“We’re super thrilled we’ve been able to connect (Megan) with medication that can stop the progression of her disease,” Arndt said.

 

Advertisement
Advertisement