Corporate, Genetic & Rare Diseases

Video: The diagnostic odyssey

Genomics is helping solve some of the most challenging problems in the human condition and providing new hope for people around the world

The diagnostic odyssey
February 21, 2020

Families of children with undiagnosed genetic diseases often face an uncertain and unpredictable journey, referred to as a diagnostic odyssey. The average diagnostic odyssey lasts for eight years. During that time, there are two things that unite families - hope and perseverance.

 

 

That’s what Matt Might would tell you, whose son was the first in the world to be diagnosed with ngly1 deficiency after 4.5 years of searching for answers. While a cure for his son’s condition remains elusive, he felt empowered because a diagnosis meant his odyssey was finally over.

There is new hope for families like the Mights and for the 300 million people affected by undiagnosed genetic diseases – who outnumber people with cancer and AIDS combined. Whole genome sequencing now has the power to help doctors diagnose genetic diseases in days, and helps parents avoid months or years of inconclusive tests, hospital visits, costly treatments, and sleepless nights.

Unfortunately, awareness of and access to whole genome sequencing is lacking among many families affected by genetic diseases. We are dedicated to overcoming these barriers. Along with healthcare professionals, advocates, insurers and policymakers, we are working to shorten the time to a definitive diagnosis – and an end to the diagnostic odyssey – for everyone. Because everyone deserves an answer.

The right information at the right time can make all the difference for families affected by genetic diseases. Speak to your healthcare provider. Ask for whole genome sequencing. Learn more about how genomics can solve medical mysteries and improve health.

Genomics is helping solve some of the most challenging problems in the human condition and providing new hope for people around the world. You can learn more by visiting The Mighty, a digital health community created to empower and connect people facing health challenges and disabilities, or one of the organizations below.

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