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.
Diagnosed with Generalised Dystonia
Suzie Birchwood is a dancer, choreographer and the Artistic Director of Arc dance. Suzie has Dystonia and is a wheelchair user.
Diagnosed with Pulmonary Hypertension and PVOD
Chloé Temtchine, an award-winning singer, songwriter and speaker, lived with Pulmonary Hypertension and Pulmonary Veno Occlusive Disease for 12 years.
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.