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CHARGE syndrome is a genetic condition which appears in around one in every 10,000 infants. This extremely rare condition is associated with abnormalities on the eighth chromosome, and it can manifest in a variety of ways. Many people with CHARGE syndrome live very active, fulfilling lives, and independence is an option for many patients, if they are given the proper supportive care as they are growing up so that they can learn to navigate in society.
The term “CHARGE” is an acronym which includes the key physical abnormalities linked with this syndrome: coloboma, heart defects, atresia choanae, retardation of development, genital abnormalities, and ear abnormalities. The condition was first described as CHARGE association in 1979, and later changed to CHARGE syndrome when genetic research revealed the chromosomal abnormalities responsible for the condition. In order to be diagnosed with CHARGE, an infant must have at least four of the six common abnormalities.
Coloboma, a condition in which a hole appears around the structures of the eye, can cause blindness and vision problems, and even if patients do not have coloboma, they can have other eye problems such as eyes which are too small, or missing eyes. Heart problems for CHARGE patients are quite varied, but often correctable. Atresia choanae is a condition caused by partially blocked or sealed nasal passages, and some patients also have cleft lips, palates, and other birth defects related to incomplete development in the womb.
Retardation of development can range from developmental delays in the brain to slow growth. The genital abnormalities seen in CHARGE patients also include urinary tract issues, and many also have problems with the endocrine system, with glands underproducing necessary hormones. Ear abnormalities can range from total deafness to partial hearing loss. Patients can also develop problems such as central nervous system abnormalities, low muscle tone, scoliosis, and kidney abnormalities. Behavioral problems are also common, although these can often be addressed with compassionate care which is focused on providing the patient with opportunities to learn, communicate, and experience the world.
Some babies are born with such severe abnormalities that they are unlikely to survive infancy and childhood. Other children with CHARGE syndrome can be treated and they may live well into adulthood. Treatments can include surgery to manage birth defects, medications to compensate for missing hormones, and physical and occupational therapy. CHARGE syndrome patients need advocates in the form of parents, therapists, teachers, and doctors who will provide them with numerous opportunities for educational and personal enrichment.
Like many children with developmental disabilities, CHARGE syndrome children are sometimes assumed to be untreatable, but in fact they have the same capacity for emotional and intellectual development as everyone else does, and many of them make irreplaceable contributions to society.
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