My name is Adam and my younger annoying sister is Lea. It is no so long ago that we entered the world and we’ve already had the first serious flop… Sanfilippo. What can we say – each of us had a 25% of having this defect, because of mutations of one damn gen. And guess what – both of us have it. Well, what can we do… our parents made their research and it turned out that there is hope for us! But this topic is tackled in other sections of this website. Here you will find a little bit of information about us. Although we have this crap disorder, we are very cool and adorable kids.
If you have never heard this name before – do not worry. This is a rare metabolic genetic disease, in which so called mucopolysaccharides are being excessively accumulated within various body cells. This is caused by a lack or deficiency of a specific enzyme needed to break down those mucopolysaccharides. MPSIII is a fatal disease. It is difficult to diagnose as at the beginning the children are developing normally, even though they are being born with a defective gene. The disease is a progressive disorder that mainly affects central nervous system. Over time, brain cells are being filled with waste, which owing to the lack of the enzyme, is not processed as it normally would be. The brain is gradually being impaired which results in children’s hyperactivity, insomnia, loss of speech and cognitive skills, mental retardation, heart problems, seizures, loss of mobility, dementia and eventually death usually before adulthood (on average, 15 years of age).
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