The Importance of Early Detection of Rare Diseases
FEBRUARY 14, 2017
In an RDR exclusive interview, we spoke with Marielle, a parent of a child diagnosed with MPS II (Hunter syndrome). During the interview, she explained the importance of early detection of rare disease so that a patient can get the treatment they need, and participate in any ongoing clinical trials.
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Hunter syndrome, also known as mucopolysaccharidosis type II, or MPS II, is a lysosomal storage disorder caused by inadequate activity of the enzyme iduronate-2-sulfatase (IDS), which is needed to break down complex sugars produced by the body. The buildup of these complex sugars, known as mucopolysaccharides, interferes with functioning of certain cells and organs, leading to serious complications including developmental delays and mental impairment.