GACI/ARHR2 Awareness Day is February 1st
Around the world, Rare Disease Day is acknowledged on the last day of February, a month known for having a ‘rare’ number of days.
We are kicking off the ‘rare’ month of February with our annual GACI/ARHR2 Awareness Day on February 1.
Please join us in spreading awareness of the ultra-rare conditions of Generalized Arterial Calcification of Infancy (GACI) and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2).
Why is it important to have an awareness day for GACI/ARHR2?
GACI is a rare disease that occurs in roughly 1 in every 64,000 pregnancies. The survival statistics for GACI are currently estimated to be around 50%, with the most critical period being the child’s first six months of life. The length of time from symptom onset to the proper diagnosis of a rare disease is currently 4.8 years. Most doctors have never even heard of Generalized Arterial Calcification of Infancy….and an infant born with GACI does not have 4.8 years to wait for a proper diagnosis.
Those who survive GACI may develop a rare form of rickets known as ARHR2. This can result in bone and joint pain, bone deformities, dental problems, calcification of ligaments, and short stature.
Early diagnosis leads to earlier treatment options. Early diagnosis saves lives. So we are actively working to spread our message. This is our motivation for having GACI/ARHR2 Awareness Day!
- GACI/ARHR2 are ultra-rare conditions. GACI is estimated to occur in roughly 1 in every 64,000 pregnancies.
- Survival statistics are estimated to be around 50%. Sadly, that means over 50% of babies born with GACI do not survive infancy.
- GACI Type 1 is caused by mutations in the ENPP1 gene and is also known as ENPP1 Deficiency.
- ENPP1 Deficiency can also cause Autosomal Recessive Hypophosphatemic Rickets Type 2.
- GACI Type 2 is caused by mutations in the ABCC6 gene and is also known as ABCC6 Deficiency.
- ENPP1 and ABCC6 Deficiencies are LIFELONG conditions that can cause a broad range of complications throughout a patient’s lifetime.
- GACI/ARHR2 affects males and females equally and occurs in populations all around the world.
- Joint calcifications are seen in roughly 30% of babies born with GACI.
- About 25% of patients with ENPP1 Deficiency will develop cervical spine fusion.
- 50%-75% of patients with ENPP1 Deficiency will develop hearing loss during their lifetime.
- Over 70% of patients who survive GACI will develop ARHR2.
Shareable Online Content
Please feel free to use these pre-written social media posts to help spread awareness!
February 1 is GACI/ARHR2 Awareness Day! Please join me in spreading awareness of this rare condition by wearing red and white.
Someone I love is affected by GACI/ARHR2. Please consider wearing red and white in honor of them on February 1 to acknowledge GACI/ARHR2 Awareness Day. Thank you!
Generalized Arterial Calcification of Infancy is a heartbreaking diagnosis for any family. But early diagnosis can save lives. Please consider supporting GACI Global on GACI/ARHR2 Awareness Day on February 1 by wearing red & white.
Tags & Hashtags
Please tag us @gaciglobal in your social media posts and videos and use the hashtag #gaciarhr2AwarenessDay.
Facebook Profile Photo Frames
Please feel free to use the GACI/ARHR2 photo frames that have been designed for GACI/ARHR2 Awareness Day.
To access the Facebook photo frames:
1. Click on your Facebook Profile Picture
2. Click UPDATE
3. Click ADD FRAME
4. In the SEARCH bar type GACI
5. Several frame options will appear
6. Choose the frame you would like for your profile picture.
Below are examples of the Facebook Photo Frames using Arty, the GACI Global mascot. The frame you choose will be around your Facebook profile picture: