Generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemia rickets type 2 (ARHR2) Awareness Day is recognized each year on Feb 1. This is a time for spreading awareness about these rare conditions among the general public and the medical community. Patient Worthy partner organization GACI Global recently shared some information about the special day in a Facebook post.
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder that is characterized by arterial rigidity that often triggers heart failure or heart disease. It is linked to mutations of the ENPP1 gene (type 1) in around 75 percent of cases. In around 10 percent of cases, it is attributed to mutations of the ABCC6 genes (type 2); however, there is a small percentage with no identifiable mutation. Infants are typically impacted in the first six months of life. Symptoms are varied and can include cyanosis, low fetal activity, swelling, high blood pressure, vomiting, abdominal distension, arterial stiffness, heart failure, faint or absent pulse, refusal to eat, narrowed blood vessels, breathing problems, enlarged heart, kidney failure, hearing loss, and more. Many infants die of heart disease. While there is no cure for GACI, certain treatments can improve survival, such as bisphosphonates, PGE1 infusion, sodium thiosulfate, and heart transplant. To learn more about GACI, click here.
GACI Global is encouraging participants to take to social media on GACI/ARHR2 Awareness Day. They have put together a number of resources for spreading awareness on a variety of social media platforms, such as pre-written social media posts and Facebook profile picture frames.
If you want to help spread awareness, don’t forget to use the hashtags #GACIGlobal, #GACIARHR2Day, #GACIARHR2Awareness, and #GACIARHR2AwarenessDay.
Are you part of the GACI/ARHR2 patient community? Share your story on social media and don’t forget to tag @gaciglobal in your posts.
Check out all of these awareness resources from GACI Global here.