There was an initial feeling of helplessness, John Gourley remembers, a punch in the gut that conveyed the daunting reality of the situation.
The Portugal. The Man singer/guitarist and his partner, Zoe Manville, had just received news on their daughter’s health. Frances, now 12, had struggled with a battery of symptoms including seizures, tremors, migraines, nausea, vomiting and muscle weakness.
On some level, a diagnosis was positive — it gave the family an answer, a name to attach to the symptoms, a small dose of surety.
But they learned Frances has DHDDS, an incredibly rare genetic mutation that inflicts only a handful of other people worldwide.
That meant precious little research, virtually no developed medications or treatments — and therefore, little help from insurance. Still, Gourley and Manville started a mental audit of how they’d move forward, including selling their house north of Portland to fund treatments. Their doctor put a quick stop to that.
“Keep your house,” Gourley recalled the doctor saying. “Frances needs a place where she feels comfortable. She needs to be home. All of these kids need to be at home. You can’t afford it.”
The hard truth of the situation hasn’t dissuaded the family, which made the diagnosis public over the summer. The nature of the disorder has necessitated alternative methods for both funding and treatment.
Gourley, who was born and raised in Mat-Su, and Manville have become parent-advocates. They helped launch Cure DHDDS USA, described on its website as a “charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations.”
As important as the research is, Gourley said, developing a support network for families who feel alone as they navigate the diagnosis can be just as beneficial in the near term.
“I see parents who just want to connect with somebody who is going through the same thing but really have no idea how to go about finding help,” he said. “The possibility of treatment seems like it’s not real, and that’s pretty heartbreaking.”
They’ve also launched a GoFundMe for Frances, with the hope of being able to develop a dedicated source of funding for fighting the disorder.
“These types of diagnoses leave families isolated and overwhelmed with the gargantuan task of raising the funds that go to improving and hopefully saving the lives of the people they love,” Manville wrote on the fundraising page.
So far, the GoFundMe has raised more than $263,000 out of a $5 million goal for developing treatments. It’s a staggering amount, unattainable for virtually any family.
“Hearing that we couldn’t afford it. I’ve got a Grammy on the shelf. A billion streams on one platform,” Gourley said. “You look at all this stuff. If I can’t afford it, average working-class families can’t afford it.”
Gourley said his daughter has struggled with “an avalanche of emotion” at times, frayed by the symptoms she is sometimes overwhelmed by frustration, fear and even guilt.
“Tackling that for the average kid, hormones and everything, at age 12 is difficult,” Gourley said. “Let alone adding all these other factors in the mix. That’s a really difficult thing to watch any kid go through and see her recognize that is hard.”
Since her diagnosis, their family has made progress. Frances was selected for a program by n-lorem, a nonprofit foundation that treats nano-rare patients, people who are one of less than 30 patients worldwide with that exact mutation.
Still, at this point, the treatments are in experimental phases and research is in its infancy. Gourley said that as Frances gets older, gene therapies will become less effective. With a lack of full-field studies, personalized medicine is likely the best bet for an effective treatment. Gourley believes drug repurposing — or using drugs already established for use in other illnesses — shows a lot of promise in cases like Frances’ and other rare diagnoses.
Although their family has noticed Frances’ symptoms for years, the scope of the illness has also come into focus. Aside from seizures, tremors, photosensitivity and frequent nausea, the illness also causes developmental delays. Recent genetic tests show Frances is half her age developmentally.
Despite the upheaval, Gourley reports that overall Frances is doing well. She shares her parents’ love for music and sometimes joins the band onstage to sing. She even contributed vocals to two songs on the band’s most recent album, “Chris Black Changed My Life.”
“Frances is really good,” Gourley said. “She’s got into a new school, for kids with different needs. And that’s been really helpful for her.”
Gourley laughs when he describes his daughter’s outgoing personality, a sharp contrast from her parents.
“She’s so funny,” he said. “(Zoe and I) are both introverts. To have this kid that is so explosively extroverted. ... I love seeing her come out of school each day and introduce me to these kids that are nervous about meeting an adult parent, and she’s just like, ‘I want you to meet Rebel and Winston and Charlie.’ It’s so fun.”
Last weekend, Portugal. The Man hosted a block party in Portland that raised money for DHDDS. Gourley, who was in Alaska earlier in September, said he plans to return to the state for a fundraiser for Frances and DHDDS. He said he’ll continue to work on issues involving Alaska’s Indigenous people and in the state with the PTM Foundation, which Gourley founded with bandmates Eric Howk and Zach Carothers, who also grew up in Alaska.
Gourley said a major goal is to remove that feeling of helplessness and give families a path forward for treating and potentially curing rare genetic conditions.
“Sitting in that room and going ‘We can’t afford it,’ ” he said. “Looking at your kid and saying that ... we’ve got to fix that for other kids. It’s bigger than just Frances.”