GACI Global is a nonprofit organization whose mission is to connect families affected by Generalized Arterial Calcification of Infancy or Hypophosphatemic Rickets caused by ENPP1 or ABCC6 Deficiencies to each other and to the medical community. The organization strives to provide current educational resources and supports ongoing research. GACI Global is…circulating hope.
Our goal is to provide information about what complications can occur due to ENPP1 and ABCC6 Deficiencies (e.g. GACI, ARHR2) and to provide hope for families impacted by the condition. We hope that our website, newsletter, and social media outlets act as a resource not only for medical information, but for personal support during your own GACI/ARHR2 journey. Our community is small, but growing and we hope to offer support and information to families affected by this disorder around the world.
What is GACI?
Generalized Arterial Calcification of Infancy (GACI) is a rare genetic disorder that affects the circulatory system in addition to other body systems. GACI was first described in medical literature in 1899. It occurs in approximately 1:200,000 births. GACI affects males and females equally and occurs in populations all across the world. Individuals with GACI can exhibit a variety of medical features including respiratory distress, arterial calcification, gastrointestinal issues, joint calcification, hearing loss, high blood pressure, stroke, and heart failure. Learn more here.
What is ARHR2?
Many survivors of GACI go on to develop Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). Patients with ARHR2 suffer from low phosphate levels in the blood (hypophosphatemia) as a result of renal phosphate wasting. The correct balance of phosphate is essential for the normal formation of bones and teeth. All bones in the body can be affected by rickets. The symptoms can include bone pain, bone deformity, short stature, fatigue, and dental issues among other things. Learn more here.