Real stories

Patients share their experiences with rare disease

Real patients and their families tell their stories—the core of Invitae's mission.
 

For the millions of people experiencing a rare disease, life can be filled with questions. Genetic testing can help find answers.

Identifying a rare disease often sparks a “diagnostic odyssey” that can stretch over many years. Genetic testing can help dramatically shorten that search for answers, connecting patients more quickly to the care they need.

For Liz Brown, being adopted meant that she always had questions about her health history. A diagnosis provided an answer to a lifelong question and gave Liz control of her family’s health and future. Genetic testing, she says, “gives you so many options to be proactive with your life instead of feeling like you have to be reactive when you get sick.”

Impacting lives

 
Genome magazine’s Code Talker Award honors genetic counselors who have impacted the lives of patients with rare diseases. Read their stories:

Ending the diagnostic odyssey

A recent survey on rare diseases demonstrates impact of delayed diagnosis and obstacles for patients and clinicians:
 

Rare disease infographic