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Sanfilippo syndrome, a rare "freezes" the child before our eyes

Sanfilippo syndrome, a rare "freezes" the child before our eyes

Sanfilippo syndrome, a rare "freezes" the child before our eyes
Four-year girl

Tilly Mae Maudsley of Hertfordshire becomes a living mannequin because of a rare genetic disorder that triggers joint stiffness, tells The Daly Mail. According to doctors, the disease "Sanfilippo" diagnosed only in a small number of patients in the world.

Sanfilippo Syndrome is also known as mucopolysaccharidosis type III. Under this condition assumes a group of metabolic diseases of connective tissue. They are caused by metabolic disorders mucopolysaccharides wearing a hereditary character. The result – the appearance of defects in bone, cartilage and connective tissue due to the accumulation of sugar.

At the moment the girl can not speak, raise your hands above your head and bend your legs as she wants. Soon the girl completely lose the ability to move independently. According to the forecasts of doctors, Tillie Mae Maudsley should not live up to 14 years (diagnosis put her in two years, after a long course of antibiotics.) The only hope – an experimental tool Genistein, approved so far only in the U.S..

So, at the moment Tilly Mae Maudsley in the early stages of the disease. Next, and a complete loss of the ability to move, to maintain balance. Also, people with this disorder may begin to cry and unreasonably upset. Sometimes develop autism. At the last stage, the child is not able to take food, increases the risk of fatal infections.