The Genetic Diagnosis That Ended This Family's 37-Year Diagnostic Odyssey

For many families impacted by rare diseases, they experience what’s often referred to as the “diagnostic odyssey.” A diagnostic odyssey reflects the journey from uncertainty and unexplained symptoms to an accurate diagnosis and a pathway to care and community.

Every diagnostic odyssey has a different timeline. Some may take months. Some may take years. 

Luca Foschini’s family experienced a 37-year-long diagnostic odyssey for his brother Guido. It wasn’t until the Foschini family was connected with comprehensive genetic testing that they finally received an accurate diagnosis for Guido: Phelan McDermid syndrome. With this, the Foschini family finally had answers and an end to their diagnostic odyssey. 

In the article “The Improbable Journey to Unravel Guido’s 37-Year Diagnostic Odyssey,” Luca Foschini shares keen insights from his family’s decades-long search for a diagnosis – including how it shaped his own path. Motivated by a desire to support people in their health journey, Foschini built a career in biotech. As he states in his article, that pursuit was all “because of Guido.” 

Despite having the latest health technology at his fingertips, Foschini’s family still faced many challenges in getting an accurate diagnosis. 

Furthermore, families who have undergone genetic testing before may not have the full picture. Healthcare teams may only order specialized genetic tests that don’t screen for every genetic variation. Indeed, Luca’s family went through several rounds of genetic testing before finally getting an answer. Whole genome sequencing is the most comprehensive test available – and even this requires a deep analysis in order to uncover an accurate diagnosis. As genetic science advances, it may be worth revisiting testing again especially if it was not whole genome sequencing. 

It’s also why Foschini chose to share his story. Inspired by another writer’s own 30+ year diagnostic odyssey, Foschini encourages other families to keep searching for answers and to press their healthcare teams until they’ve explored every testing option. As Foschini puts it, “these stories need to be told, not to collect sympathy, but so the next odyssey is shorter.”

This is the driving force behind Start Genetic’s mission and why Genetic Testing Action Day exists. 

An accurate diagnosis doesn’t just end a search, it opens doors to answers, care options, and a community that already understands what you’ve been navigating. For the Foschini family, it meant they were connected to answers that reshaped how they approached Guido’s care. It lifted decades of guilt his mother carried. And even though there is no cure yet, it joined the Foschini family with a network of advocates that are pushing research and treatment options forward. 

Moreover, every new accurate genetic diagnosis provides a more accurate picture of a condition’s prevalence. For rare diseases, this can be the key to expanded investment in research and care. And, as Foschini shares so eloquently in his article, understanding one family’s genetics can provide insights into answers for the global community. These genetic insights can lead to understanding of “why any of us sleep, remember a skill, or lose a track of a thought.” 

That’s why rare disease research matters. And why it’s critical that every family has access to genetic testing resources so they can get access to genetic testing before decades pass, not after. 

This Genetic Testing Action Day, we invite you to start the conversation. Share stories like Luca’s and others’ on social media. Talk with your healthcare team. Discuss with your loved ones about getting genetic testing. Share Start Genetic resources with the people in your community. If you or someone you love has been living with unanswered questions, a genetic test might be the next step toward real answers and a real community. 

Like Luca Foschini, Start Genetic is working towards a future where the next family doesn’t face a protracted diagnostic odyssey. We’re grateful to Luca for sharing his story so that the next family can learn from it.

Together, we can make genetic testing accessible for everyone – unlocking understanding, community, and a way forward.

Read Luca Foschini’s full essay, “The Improbable Journey to Unravel Guido’s 37-Year Diagnostic Odyssey” at this link.

Want to learn more about Genetic Testing Action Day and join the conversation? Download the July 25th Toolkit to get started.