ANCHORAGE, Alaska —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.”
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