Local mom takes charge of CHARGE syndrome

Heart conditions often accompany CHARGE. Josh experienced heart failure at six months old and underwent heart surgery.

Atresia of the choanae or stenosis is a blockage or narrowing of the airway between the back of the nose and the throat. This was the reason behind Josh's trach, which remained in until he was two and one-half years old, when he had his adenoids and tonsils removed.

Retardation of growth is not a problem for Josh like it is for most CHARGE kids; his height and weight are normal for his age, though he is delayed in his development. Because CHARGE kids are challenged in so many sensory areas, it is difficult to estimate each individual child's level of intellectual development. Some have shown they do possess normal intellectual abilities while others have some mental retardation.

Genital and urinary abnormalities are common among CHARGE children. Josh was in and out of the hospital with kidney infections until he had one kidney removed at the age of one.

Ears among CHARGE kids are characteristically short, wide and have little or no ear lobes. Additionally, most have hearing loss ranging from mild to profound and have inner ear abnormalities resulting in poor balance. Josh is deaf in his left ear and was born without semi-circular canals in his ears, but his brain has compensated remarkably well and he has developed enough balance to run and climb two of his favorite activities.

There is a long list of other common features of CHARGE. One of those features is cranial, or head and neck, nerve abnormalities. The result is partial paralysis of the facial muscles and swallowing difficulties requiring the use of a feeding tube for proper nutrition and to avoid aspiration pneumonia.

CHARGE syndrome occurs in about one in 10,000 births and appears in an equal number of girls and boys in every ethnic group around the world. It is sporadic without other affected family members. The condition is now known to be caused by a mutation in the CHD7 gene on chromosome No. 8.

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