THE EXPERIENCE OF LIVING WITH GENETIC DISORDERS IS FAR MORE COMPLEX THAN ITS MEDICAL FEATURES.
Genetic disorders have powerful effects on families. They may affect not only the physical health, but also the psychological, emotional and social well-being of families and their children.
Often, families spend years living with a genetic disorder without knowing its name or cause. Depending on the condition, constant care and attention is required, while medical costs can be daunting.
Though every family reacts differently, living with a genetic disorder is a lifelong experience for all. Understanding the unique aspects of genetic information can minimize the distress and maximize the benefit for both children and families. They can also help other family members make decisions about their own lives.
Sharing stories about people and experiences can be one of the most effective ways to communicate the importance of genomic information. The following stories are powerful examples.
Born with a dysfunctioning immune system
Baby Fitz was born with a dysfunctioning immune system, a condition known as "bubble boy disease". His story offers a glimpse into the future for rare inherited diseases and hope for treatment.
Lived with Klinefelter syndrome
Anestis and Dimitris were two brothers who had Klinefelter syndrome. As they were never diagnosed, they had to endure the prejudice of their neighbours in a small village, nearly 40 years ago.
Diagnosed with MDP syndrome at 23
Tom Staniford, age 31, was diagnosed with MDP syndrome at 23, a disease that was not recognized until 2013. Tom aspires that one day he will be judged for his abilities, not his disabilities.