Encyclopedia of Terms

Genetic conditions can pop up at any stage of life, either because of heredity or environment. Since most are very complex and hard to recognize, they’re often misdiagnosed as common disorders. Most general practitioners aren’t trained to recognize complex genetic disorders.

That could send you on a five-to-15-year diagnostic odyssey of frustration, confusion, misdiagnosis, endless visits and follow-ups with doctors and
specialists, countless tests that often come back inconclusive, even unnecessary medical procedures. It all adds up to valuable time lost for people
trying to manage possible life-threatening conditions. And it’s become a real crisis.