John Gourley and Zoe Manville are members of the hit band Portugal. The Man and are also parents to a 12-year-old daughter Frances, who has a rare genetic mutation.
They’re now using their platform to raise awareness about the genetic disorder, which is known as DHDDS.
The couple first caught wind of their daughter’s condition when she started having seizures during the lockdown period of the pandemic.
“Everything had shut down. So we had all this time at home and we’re hanging in. We just started seeing her having these seizures. It was just a couple a day and Zoe really just stayed on top of it and documented everything. It went from a few seizures a day to hundreds,” Gourley explained.
Once their daughter was diagnosed with DHDDS, they were extremely concerned.
“I took to the internet to read everything I could find, which was not very much,” Manville explained. “It was pretty terrifying. Some of the symptoms and the way it was described, I kind of stopped reading that stuff because I didn’t know if I was actually looking at the right thing. It didn’t seem like Frances. So I kind of stopped until we had a genetic counseling appointment. Five months later, and somebody kind of confirmed that that was what she had.”
As this condition is rare, they have helped launch Cure DHDDS USA to help support families going through the same thing and to bring a sense of community.
“We’re kind of growing that community, there are people getting tested now for seizures and some of those symptoms,” Manville said. “We’re seeing a couple of new people every other week and so we all find each other, which is really helpful. I think when I found out we were the only ones, there wasn’t anybody in this country to talk to and now we’re slowly finding people and coming together.”
The couple shared that this is a “progressive disease,” and see more signs every day from their daughter.
“The seizures came on pretty quickly or (the) tremor has gotten a little bit worse,” Gouley said. “But she’s a kid man. She’s so fun and so funny. I mean, it is scary when you look at the future and we’re really hopeful and optimistic thinking about these two treatments available. I mean, they’re there. They can be created.”
While there is no cure for DHDDS, doctors and scientists are working on finding and creating more specific treatments the organization’s website explained.
“They just have to be tailor-made and it takes time. I think the scariest thing is time and affordability,” he continued. “When we got hit with the cost of these developments, it really made me think about all the parents out there that work two and three jobs like we can’t afford this treatment.”
“We just want to raise awareness for genetic testing and how important this stuff is trying to push forward drug repurposing and just the science for everybody.”