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When Gay Grossman talks about her daughter Lilly’s diagnostic journey, the sleepless nights stand out the most. For years, Lilly would wake crying in pain up to 16 times a night. She saw 45 specialists by the time she was eight. It took seven more years to find the answers: two rare gene variants, DOCK3 and ADCY5.
And finally—Lilly could sleep.
This is what we call the diagnostic odyssey: the long, uncertain, invisible wait between symptoms and diagnosis. It’s filled with false starts, repeated tests, growing anxiety, and very few answers.
It drains hope. It delays targeted care. And it’s more common than you think.
On average, families wait five years for a rare disease diagnosis. Some, like Lilly’s, wait much longer.1
Ashley, another mom, spent nearly a decade trying to find out what was behind her child’s unexplained symptoms. “I would never wish those seven years I spent searching for a diagnosis on anyone,” she says.
Raising a child with a rare disease often means carrying an invisible weight—one that goes far beyond the medical complexities.2
They carry the emotional weight of uncertainty while fighting for clarity that should be easier to access.
Families don’t end up in a diagnostic odyssey by choice. They’re navigating a system that’s complex, fragmented, and not designed for speed—especially when it comes to rare disease.
Delays in referrals or missed signs in early care
Lack of awareness among some providers that genetic testing is even an option
Insurance hurdles that can slow referrals and access to testing
Limited access to genetic counselors or specialists, especially in rural areas
Outdated testing approaches that miss the full picture
Emily knows the difference a single genetic test can make.
Her daughter was diagnosed with cerebral palsy at two months old, but Emily pushed for exome testing anyway. The result? A CTNNB1 gene variant that revealed a much more complex condition. Without that test, her daughter could have gone blind from a tethered spinal cord.
“If I had just accepted that diagnosis, we would’ve missed everything,” she says.
Emily’s persistence gave her family answers. And a clear path forward.
With more precise tools like whole exome and genome testing, more families are getting answers sooner—just like Emily’s.
Stories like hers are why we continue to build one of the largest genomic databases in the world; to deliver clear, connected, and actionable results—often in as little as two days. It’s not just about science. It’s about relief, direction, and hope.
Ending the diagnostic odyssey means changing the system, not just helping families survive it. Here’s what we believe needs to happen:
Families and providers need to know genetic testing is an option—and that it helps. Many professional societies recommend exome and genome testing as a first step, as soon as symptoms appear.
Testing, counseling, and results should feel connected. Our Epic Aura EHR integration helps providers order tests and access results faster—all in one place.
Insurance delays cost families time and care. We support efforts that push for earlier access, broader coverage, and more equitable testing.
May will never forget the moment her son finally got a diagnosis: CUL4B Neurodevelopmental Disorder.
“It was literally one of the most relieving experiences of my life,” she says. “It was like having a direct prayer answered.”
We want that for every family. Because when it comes to rare disease, the longer you wait, the further you can fall behind. But with the right tools and support, there’s a way out of the wait.
Let’s end the diagnostic odyssey. For good.
References: 1. Marwaha S, Knowles JW, and Ashley EA. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 2. 2016 survey on supportive care needs of parents with a child with a rare disease.
