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Rare disease topic of presentation

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Nick Wallace, local representative of Cri du Chat International Society, shared with the Bellefontaine Kiwanis Club this week the journey of his daughter, Allison, who has this rare genetic disorder, in which a portion of a specific chromosome is missing.

It affects an estimated one in 35,000 live births, strikes all ethnicities and is more common in females, Mr. Wallace said.

The condition, medically known as chromosome 5p- syndrome, was first described by French doctor Jerome Lejeune in 1963 and he coined it in his native language “call of the cat,” referring to the characteristic cat-like cry of affected children.

This week is Cri du Chat Awareness Week nationally, Mr. Wallace noted before describing signs and symptoms that include feeding problems because of difficulty swallowing; low birth rate and poor growth; severe cognitive, speech and other delayed behavior problems; unusual facial features such as wide eyes, small head and jaw; and in some situations cardiac abnormalities and difficulty communicating.

 

 

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