ENPP1 Deficiency as featured on The Balancing Act – Behind the Mystery
Connect. Educate. Hope.
GACI Global connects, educates,
and gives hope to families
affected by Generalized Arterial
Calcification of Infancy and ARHR2.
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.
Your charitable donation to GACI Global is tax-deductible and 100% of your donation is received by GACI Global. There are no salaries or expenses paid to any of the directors or volunteers of GACI Global – their work is entirely voluntary.
Want to help? Support GACI Global with your donation today.
GACI affects males and females equally and occurs in populations all across the world. GACI manifests itself differently even within families with the same genetic cause of the disease. No two persons with GACI will have identical medical characteristics.
GACI is estimated to occur in approximately
1 out of every 64,000 pregnancies.
There have been slightly over 200 cases documented since GACI was first described in medical literature in 1899.
Survival rates vary greatly, but are estimated around 50%.
What is Generalized Arterial Calcification of Infancy?
Generalized Arterial Calcification of Infancy (GACI) is a rare genetic disease that primarily affects the circulatory system. GACI causes an abnormal buildup of calcium within the walls of the arteries. This can cause critical blockages which can reduce blood flow to organs which in turn can cause stroke, heart attack, and death. There are two types of GACI: Type 1 is caused by a deficiency in the ENPP1 gene and Type 2 is caused by a deficiency in the ABCC6 gene.
Every family’s journey with GACI and/or ARHR2 is unique. The road can be exhausting, challenging, heartbreaking, hopeful, and inspiring. Read on to discover some real life patient stories as told in their own words.