Monday, July 31, 2017

Girl, 9, is allergic to HOT and COLD weather due to rare chromosome condition

Nine-year-old Bethany Bell suffers from a rare chromosome disorder, 1q4 deletion that causes an allergic reaction to hot and cold weather and can only venture out when the weather is mild. 1q4 deletion is a mutation in chromosome 1 that causes deletion of some of the cells of the body leading to missing genetic material. Chromosome 1 is the largest chromosome and represents about 8 percent of the total DNA in cells. Missing parts of Chromosome 1 poses a wide range of health problems which include birth defects, developmental delay and learning difficulties, structural anomalies of the brain, hypotonia, seizures, feeding difficulties, heart conditions, reduced height and an unusually small head. A donation of a sheepskin lining and a waterproof cover from Newlife Charity which helps disabled children means Bethany can now enjoy life outdoors without worrying about how she will react to the weather.
'The sheepskin lining means we will be able to keep her warm in the winter, and the cover means she won't get too wet and cool when it is raining,' said Mrs Bell. Children who suffer from 1q4 will most likely need life long care to manage the condition. 

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