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Local mom takes charge of CHARGE syndrome

MORRISONVILLE Search the world over, you will not find a more dedicated and passionate mother than Cyndie Pfohler. Her passion and dedication to motherhood has carried her through some rough waters and inspired her to be a champion for her six-year-old son Joshua, who was born with CHARGE syndrome.

Cyndie and her husband, Bob, were informed early in Cyndie's pregnancy some of their child's organs did not appear to be forming properly. Plans were made for labor to be induced at a hospital in Albany where a team of specialists would be on hand to perform any lifesaving surgeries that might be required. Joshua was born April 22, 2001, and within the first 24 hours, the first of Josh's 14 surgeries was performed a tracheostomy tube was put in so he could breathe. Shortly after that, he had a G-tube surgically put in so he could be fed. To this day, Josh is fed through the G-tube and has never chewed or swallowed food.

At 29 days old, Cyndie and Bob took their first-born son home. Though he had been seen by numerous specialists, they were all baffled by his condition. It was not until Cyndie searched out a geneticist in Vermont who was able to identity his condition as CHARGE syndrome, that Cyndie and Bob knew exactly with what they were dealing. By that time, Josh was several months old.

CHARGE is a rare and complex genetic condition deriving its name from a descriptive acronym of the most common features of the disorder: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genito-urinary abnormalities, Ear anomalies and hearing loss.

Coloboma is a cleft of the eyeball in either the iris, retina or optic nerve, causing vision loss or blindness. Although Josh has some vision, he is legally blind.

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