Diagnosis is Power - GeneDx® 

New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more

Stop calling me a "medical mystery". One test can change everything. Diagnosis is power.

No kid should wait years for answers.

For kids with rare diseases, childhood isn’t carefree—it’s clinical.

It’s often spent bouncing between doctors, tests, and treatments that leave them and their families with more questions than clarity.

These kids don’t need more guesswork.

They need answers, now.
Because diagnosis is power.
And theirs is long overdue.

The reality of rare disease.

1 IN 10

people live with a rare disease, half of them babies and children¹

85%

of rare diseases are genetic²

< 5%

of rare diseases have a treatment³

30%

of children diagnosed with a rare disease don’t live to see their 5th birthday⁴

the average number of years it takes to get an accurate diagnosis⁵

We’re on a mission to end the diagnostic odyssey

When families are stuck in the endless loop of referrals, repeated tests, and unanswered questions, they’re in what we call a diagnostic odyssey.

It’s a cycle of uncertainty that wastes time, drains hope, and delays care.

So we’re working to end it for children and their families with faster, more comprehensive, and more precise genetic testing—turning guesswork into clarity, and waiting into action.

The power behind an exome or genome test:

Answers in days, not years—because families shouldn’t have to wait for clarity

Fewer unnecessary tests and procedures—saving time, stress, and cost

Actionable insights for providers—to build faster, more precise care plans⁶

Real clarity for families—to finally move forward with confidence and support⁶

Find out more about our testing options

One test changed everything for these families

A diagnosis isn’t just data. It’s an answer. It’s peace of mind. It’s a plan.

“To any family who is on the fence about genetic testing, I urge you, please please please do it. Knowledge is power.”

—Ashley, mother of a child who finally got a genetic diagnosis for her child’s rare disease

“The diagnosis gave me more peace of mind, less fear, less worry, less pressure on myself.”

—Ben’s mother

“Information gave us power. We were able to make changes immediately that were practical and had real implications for how we take care of Margot.”

—Lili, parent of a child with a CDKL5 gene variant

“The more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”

—Andrea

Join the fight to end the diagnostic odyssey

Your voice can help raise awareness and bring answers to the kids who need them most.

This is just the beginning. Real change takes time, but awareness starts with conversation.

Whether you’re a caregiver, clinician, advocate, or simply someone who cares – your voice matters. Let’s shift the narrative from “mystery” to movement. From silence to strength.

Join the movement

Follow us on social media and share your story using #DiagnosisIsPower
Read and share real stories from families who got answers
Discover more ways to advocate

Make sure your story’s heard.

Share with us here

References: 1. Global Genes Allies in Rare Disease. “Rare Disease Facts.” Global Genes. Accessed May 13, 2025. https://globalgenes.org/rare-disease-facts. 2. Tisdale A, et al. Orphanet J Rare Dis 16, 429 (2021). 3. https://doi.org/10.1186/s13023-021-02061-3 3. U.S. Government Accountability Office. “Rare Disease Drugs: FDA Has Steps Underway to Strengthen Coordination of Activities Supporting Drug Development.” GAO. Published November 18, 2024. Accessed May 13, 2025. https://www.gao.gov/products/gao-25-106774 4. The Lancet Global Health. Lancet Glob Health. 2024 Mar;12(3):e341. doi: 10.1016/S2214-109X(24)00056-1. 5. Marwaha S, et al. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 6. Malinowski J, et al. Genet Med. 22, 986–1004 (2020). https://doi.org/10.1038/s41436-020-0771-z.