CHARGE Syndrome Awareness Day
CHARGE syndrome awareness day with two pieces of puzzle joined together
About the awareness day: 8 August
CHARGE Syndrome Awareness Day is held internationally on 8 August. This marks the day the paper on the discovery of the CHD7 gene was published online by Professor Conny van Ravenswaaij-Arts (8 August 2004). The awareness day aims to raise awareness of the variability of CHARGE syndrome to help improve diagnosis and access to best practice interventions.
About CHARGE Syndrome
CHARGE syndrome is a rare (1:10,000), complex genetic disorder causing multiple birth defects and sensory deficits. It presents in a variety of ways with a wide spectrum of medical, physical, and psychological issues. Nearly all have dual sensory loss (80-95% are deafblind) and vestibular dysfunction (missing semi-circular canals) affecting balance and processing of both visual and auditory information, dramatically interfering with development of motor skills, communication, and language milestones.
The clinical diagnostic criteria C-H-A-R-G-E was first described in 1981 but is no longer used for diagnosis. The criteria has undergone several changes since then (1998, 2005, 2016) to include an expanded list of major and minor features for clinical diagnosis. While the variant in CHD7 gene was discovered in 2004, a diagnosis of CHARGE syndrome remains clinical with genetic testing being used in borderline cases. However, due to the variability of how CHARGE syndrome presents there can be delays in diagnosis and appropriate interventions.
CHARGE: How do you spell it?
Join us on 8 August to raise awareness of CHARGE around the world.
Create the word C-H-A-R-G-E by using a variety of materials or means. You could use Lego bricks or Scrabble tiles; or perhaps get some friends to form the human letters; or write it in the sand, even in the sky; you could fingerspell it or fingerpaint it; you could crochet or knit it; even bake the letters or write it on a cake; or have it lit up in lights or hoisted up a flagpole.
The varieties of C-H-A-R-G-E are as variable as CHARGE syndrome. Take a photo of your creation and share it on social media to show how different CHARGE can look around the world.
Awareness Day partners: CHARGE Syndrom e.V., CHARGE Syndrome Australasia, CHARGE Syndrome Foundation, Associacion Espanola Sindrome de Charge, Deafblind International