John Gourley, lead singer of the Grammy award-winning band Portugal. The Man, has taken on a new role as an advocate for rare disease research following his daughter Frances’ diagnosis with DHDDS, an ultra-rare genetic condition. The family has launched initiatives to raise awareness and funds for research and treatment.
Key Takeaways
- John Gourley’s daughter, Frances, has been diagnosed with DHDDS, a rare genetic mutation.
- The family has launched Cure DHDDS USA to support research and other affected families.
- A GoFundMe campaign has been started to raise $5 million for research and treatment.
- Frances is one of only six known cases of DHDDS in the world.
The Diagnosis and Initial Response
John Gourley and his partner, Zoe Manville, were initially devastated by their daughter Frances’ diagnosis. Frances, now 12, had been experiencing a range of symptoms including seizures, tremors, migraines, and muscle weakness. The diagnosis of DHDDS provided some clarity but also highlighted the lack of available treatments and research.
Launching Cure DHDDS USA
In response to the diagnosis, Gourley and Manville helped launch Cure DHDDS USA, a charity aimed at raising awareness, supporting families, and driving research into DHDDS gene mutations. The organization seeks to build a support network for families navigating similar challenges.
Fundraising Efforts
The family has also started a GoFundMe campaign titled "Frances Changed My Life – Our search for a cure," aiming to raise $5 million. The funds will go towards both Frances’ treatments and broader research efforts. As of now, the campaign has raised over $327,000.
The Challenges of Rare Disease Research
Due to the rarity of DHDDS, which affects only a handful of people worldwide, research is in its infancy. Experimental treatments are being explored, but the lack of full-field studies makes progress slow. Gourley believes that drug repurposing shows promise for treating rare conditions like DHDDS.
Frances’ Journey
Despite the challenges, Frances is doing well overall. She has been selected for a program by n-lorem, a nonprofit foundation that treats nano-rare patients. Frances also shares her parents’ love for music and has even contributed vocals to Portugal. The Man’s latest album.
Looking Ahead
Gourley plans to continue advocating for rare disease research and support. He aims to remove the feeling of helplessness that many families experience and provide a path forward for treating and potentially curing rare genetic conditions.
"It’s bigger than just Frances," Gourley said, emphasizing the broader impact of their efforts.
Upcoming Events
Portugal. The Man will be performing at The Sound in Del Mar on February 2, with proceeds supporting their initiatives.
Conclusion
John Gourley’s advocacy for rare disease research highlights the urgent need for funding and support for families affected by ultra-rare conditions. Through Cure DHDDS USA and their fundraising efforts, the family hopes to make a significant impact on the lives of those battling these challenging diseases.
