CHARGE Syndrome

In my work as a Registered Nurse, I deal with physically and mentally challenged children. One disease I have become acquainted with is CHARGE Syndrome. When I first heard about CHARGE Disease, I wasn't familiar with the syndrome so I did some research and learned more about the condition. This is a brief overview to acquaint others with this genetic disorder.

C.H.A.R.G.E. SYNDROME:

CHARGE syndrome is a genetic birth defect consisting of a pattern of several extremely serious and life-threatening problems. Most often there is no history of the syndrome or other birth defects in the family, and it is extremely rare that parents will have another child with the syndrome. CHARGE appears to happen in about one in 8,500 births. Males and females are affected in equal frequency.

The term CHARGE Syndrome was first introduced in 1981 as a way to refer to a newly recognized set of features being seen in a number of children. Since several body systems were affected with life-threatening defects, the acronym C.H.A.R.G.E. was created.

C. Coloboma-an anomaly of the eye that often results in some loss of vision.

H. Heart and the various heart defects associated with the disease.

A. Atresia--the congenital absence or closure of an opening, passage or cavity.

R. Represents retardation.

G. Genital anomalies

E. Ear anomalies

These more common features of CHARGE syndrome can range from mild to profound. Other major life-threatening defects may also be present.

One of the most common physical symptoms of CHARGE disease is the abnormal appearance of the ears. In most cases the ears are small, simple, low set, and/or cup shaped. Other physical symptoms include head, hand and face malformations, and in boys, external genital malformations.

Swallowing and breathing problems are extremely serious, especially in the newborn. Most babies with CHARGE syndrome undergo numerous surgeries and treatments and spend months in the hospital before being able to go home to live with their families. Parent and family education and training is also extremely important to prepare for the lifelong challenges of caring for children with CHARGE Syndrome.

Individuals with CHARGE disease will have ongoing medical management throughout their lifetime. Most medical care will result around the following issues:

- Swallowing, eating issues

- Gastroesophageal reflux

- Airway and respiratory illnesses

- Sinusitis

- Hearing concerns, hearing aids

- Eye problems, detached retinas, corneal ulceration

- Growth and failure to thrive, short stature

- Sleep problems, disturbed sleep cycles of unknown cause

- Chronic constipation of unknown cause

- Scoliosis

- Behavioral problems, social immaturity

One positive and interesting fact I learned about C.H.A.R.G.E. Syndrome is that there seems to be a hidden, almost universal feature of CHARGE syndrome individuals. These children display an unusual determination and strong character.

Source: http://ghr.nlm.nih.gov/condition=chargesyndrome