Coloboma of the eye (see below)This name was developed in the early 1980s when medical professionals began to recognize a group of individuals who all shared a similar array of medical and developmental issues. The acronym summarizes the issues and although some changes have occurred in diagnostic practices, the name stuck. CHARGE is based on characteristics that are common in CHARGE but rare in other conditions, and minor characteristics that are present in other conditions, are more objective or occur later in life. For example:
Atresia of the choanae (see below)
Retardation of growth and/or development
Genital and/or urinary abnormalities
Ear abnormalities and deafness
Coloboma of the eye (malformation, like a cleft, of one of the parts of the eye) occurs in 80-90% of CHARGE individuals, and isn't generally associated with other medical conditions. It can also be observed early in life. Coloboma is considered a major feature of CHARGE.
Heart defects occur often in CHARGE (75%) and are often complex, but may be caused by other medical conditions and are therefore considered a minor feature.
Atresia of the choanae - The choanae are the passages that lead from the back of one's nose to the throat. In CHARGE these are often blocked or closed (atresia) by a membrane or bony obstruction. This occurs in 50-60% of CHARGE individuals and is also considered a major feature.
In the end no one characteristic is considered definitive for CHARGE, and an individual affected by CHARGE may not have several characteristics that another individual with CHARGE may have. Similar to autism each individual becomes their own unique blend of medical and developmental issues.
Great strides have been made toward understanding the genetic causes of CHARGE. Mutations in one gene, CHD7, have been linked with CHARGE. CHD7 encodes a regulatory gene that turns other genes on and off. Mutations to this gene are evident in 2/3 of individuals with CHARGE, but the testing is expensive and has many false negatives, so further research is needed before genetic testing can supplant clinical diagnosis.
Often individuals with CHARGE have both vision and hearing loss ("deafblind") and since these input channels are primarily used in educational settings, learning can be a major challenge. In this respect CHARGE reminds me of one of my biggest heroes, Helen Keller. Although Ms. Keller's deafblind-ness had a different cause, the fact that she overcame these obstacles and became one of our country's most admired writers, speakers, and humanitarians. I recall shortly after confirming our daughter's speech delay I read Ms. Keller's autobiography and was greatly encouraged to never give up in seeking ways to communicate with her. Individuals with CHARGE have many challenges, but in the end we must respect their tenacity to overcome and provide the support and acceptance they deserve.
For more info on CHARGE, see The CHARGE Syndrome Foundation