About Rare Genetic Disorders
Rare genetic disorders are caused by changes (mutations) in a person’s DNA that can affect growth, development, learning, and overall health. Each condition is uncommon, but together they represent a significant and often overlooked part of the human experience.
Every family’s journey is different — and navigating these conditions often means facing uncertainty, limited information, and unique challenges.
What We Know.
🧬 Thousands of conditions, many unknowns. New rare disorders are still being identified. Without widespread awareness and access to genetic testing, many go undiagnosed or misdiagnosed for years.
🧬 Inherited or spontaneous. Rare disorders may be passed down in families or arise unexpectedly through spontaneous (de novo) mutations.
🧬 Wide-ranging impact. From developmental delays to medical complications to distinct physical traits, rare genetic disorders can affect people in many different ways.
Your Role
By learning, sharing, and supporting, you help bring hope, visibility, and meaningful support to those living with rare genetic disorders — because while cures are rare, the right care and understanding can change lives.
I N T O T H E U N K N O W N
In many cases, due to the lack of research and limited number of people affected, people have only anecdotal experience to rely upon as a benchmark for a prognosis.
Bring hope, visibility, and action to those living with rare genetic disorders.