Living with Sanfilippo Syndrome: Reagan's Story
Автор: NationwideChildrens
Загружено: 2014-10-16
Просмотров: 264720
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Reagan is a happy and energetic 2-year-old girl who loves to dance, play and have tea parties. She was recently diagnosed with a rare and fatal genetic disorder, Sanfilippo Syndrome.
Sanfilippo Syndrome results from defects in a lysosomal enzyme. Children with this disease are unable to appropriately break down sugar which causes carbohydrates to accumulate throughout the somatic and central nervous system. In other words, these children who appear normal at birth will later show severely delayed neurological development and become unable to talk, walk and even feed themselves. Children with Sanfilippo Syndrome oftentimes do not live past 20-years old.
Even though there is no cure or treatment for Sanfilippo Syndrome, there is hope. Some of the leading research on this fatal disease is taking place at Nationwide Children's Hospital, with the expectation of a possible gene therapy treatment going to human clinical trials soon.
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