Rare Genetic Diseases
Supporting Families Affected by Rare Genetic Diseases: GACI and Beyond
At Brighter Hope Foundation, we are dedicated to improving the lives of those affected by Generalized Arterial Calcification of Infancy (GACI) and related rare genetic diseases. As a patient advocacy and support organization, we focus on raising awareness, advancing research, and connecting families impacted by these life-altering conditions—especially ENPP1 Deficiency and ABCC6 Deficiency, the two main genetic causes of GACI.
GACI is a severe rare condition typically diagnosed in infancy or even before birth. It is caused by mutations in genes such as ENPP1 or ABCC6, leading to dangerous calcium buildup in the arteries and other tissues. These gene mutations interfere with the body’s ability to regulate calcification, resulting in serious complications that can affect the heart, kidneys, bones, and more. Though considered ultra-rare, the challenges posed by GACI are profound and lifelong for many families.
A Home for Those Affected by Rare Genetic Diseases
Brighter Hope Foundation exists to serve a growing global community of individuals living with rare genetic diseases that stem from these deficiencies. Many of these conditions go undiagnosed or misdiagnosed due to their rarity and complex presentations. Our goal is to change that by being a central source of information, education, and empowerment.
We understand that living with a rare condition can feel isolating. Families often spend years searching for answers, facing uncertainty, and navigating a medical system unfamiliar with their child’s condition. Brighter Hope Foundation offers a place to turn—a place where you are not alone.
Learn more about rare genetic diseases in infants and children here.
Bridging Science and Support
As researchers learn more about ENPP1 Deficiency, ABCC6 Deficiency, and related diseases, hope is growing. These discoveries are not just academic—they directly impact families by improving diagnostics, informing care strategies, and opening doors to potential therapies.
Brighter Hope Foundation partners with leading scientists, clinicians, and rare disease organizations to accelerate research and bring patient voices into the center of progress. We also provide critical resources for families, including educational materials, treatment updates, support groups, and advocacy opportunities.
Whether you are newly diagnosed or have been living with the effects of a rare genetic disease for years, we’re here to help you understand your options and feel supported every step of the way.
Join Our Rare Disease Community
If you or someone you love is affected by GACI, ENPP1 Deficiency, ABCC6 Deficiency, or a related rare condition, we invite you to connect with our community. Together, we are stronger. Together, we are building a future where no one faces these challenges alone—and where every rare disease has a voice.
