Key Takeaways
- The diagnostic odyssey describes the long journey many families face before receiving a rare disease diagnosis.
- Patients often see multiple specialists and undergo years of testing before the underlying cause of symptoms is identified.
- Comprehensive genetic testing such as exome and genome sequencing can help shorten the diagnostic journey.
- Earlier diagnosis can guide treatment decisions, connect families to specialists, and improve long-term care.
What Is the Diagnostic Odyssey?
“For 15 years, we searched for answers. And for 15 years, my daughter didn’t sleep.”
When Gay Grossman talks about her daughter Lilly’s diagnostic journey, the sleepless nights stand out the most.
For years Lilly woke crying in pain up to sixteen times each night. By the time she was eight years old, she had seen 45 specialists.
Seven more years passed before doctors identified the cause: two rare gene variants, DOCK3 and ADCY5.
Finally—Lilly could sleep.
This experience reflects what many families call the diagnostic odyssey: the long and uncertain journey between the first symptoms and a confirmed diagnosis. The process can involve repeated tests, specialist visits, growing anxiety, and very few answers.
The Unseen Toll of the Diagnostic Odyssey
On average, families wait five years for a rare disease diagnosis.Âą
Some families wait far longer.
Ashley, another mother searching for answers, spent nearly a decade trying to understand the cause of 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 carries emotional, social, and financial consequences.
Research shows that among parents of children with rare diseases:²
- 58% say their friendships declined
- 46% report feeling socially isolated
- 53% feel anxious, fearful, or overwhelmed
- 41% receive treatment for anxiety
- 37% receive treatment for depression
- 45% struggle financially with the cost of care
Families often carry the emotional weight of uncertainty while continuing to search for answers.
Why the Diagnostic Journey Takes So Long
Families rarely choose the diagnostic odyssey. Instead they navigate a healthcare system that can be fragmented and difficult to access.
Common challenges include:
- Delays in specialist referrals
- Limited awareness of genetic testing options
- Insurance barriers that delay testing approval
- Limited access to genetic counselors or specialists
- Narrow testing approaches that miss genetic causes
These barriers can extend the diagnostic journey for years.
How Genetic Testing Can Shorten the Diagnostic Odyssey
Emily knows how much difference one genetic test can make.
Her daughter Savannah was diagnosed with cerebral palsy at two months old. But Emily continued searching for answers and eventually pursued exome sequencing.
The test revealed a CTNNB1 gene variant, identifying the genetic cause of her daughter’s symptoms.
Without that diagnosis, Savannah could have developed serious complications such as vision loss caused by a tethered spinal cord.
“If I had just accepted that diagnosis, we would’ve missed everything,” Emily says.
Stories like Emily’s highlight how comprehensive genomic testing can help families reach answers sooner.
With tools such as whole exome sequencing and whole genome sequencing, clinicians can analyze thousands of genes simultaneously to identify rare disease causes.
What Needs to Change
Ending the diagnostic odyssey requires improvements across healthcare systems.
Start with education
Families and providers need to know genetic testing is an option. Many professional societies now recommend exome or genome sequencing early in the diagnostic process.
Streamline the process
Testing, counseling, and results should be easier to access and more integrated into clinical workflows.
Improve access and coverage
Insurance policies and healthcare systems must support earlier access to comprehensive genetic testing so families can receive answers sooner.
A Future Without the Diagnostic Odyssey
May remembers the moment her son finally received 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.”
Every family deserves that moment.
Because when it comes to rare disease, the longer families wait for answers, the longer they wait for care.
With better tools, broader access to genomic testing, and earlier diagnosis, the diagnostic odyssey does not have to be the norm.
Wondering If Genetic Testing Could Help Provide Answers?
Comprehensive genetic testing can help identify the underlying cause of unexplained symptoms and shorten the diagnostic journey for many families.
Learn how GeneDx testing may help providers and families find answers sooner.
