Lysosomal storage diseases (LSDs) are a group of inherited genetic conditions affecting 1 in 7700 children born making it as common, but less well known, as hereditary conditions like hemophilia. There are an estimated 3,500 or more people in South Africa living with an LSD. Currently, only 76 people have been diagnosed with one of these conditions and are receiving treatment.
There are over 50 different types of LSDs, each of which causes different symptoms in affected individuals. Depending on the type if Lysosomal Disease, disabilities can range from mild muscle weakness to complete immobility, Even related family members may have different symptoms resulting from the same condition.
As a group, the LSDS can affect nearly every part of the body in people of all ages and races, LSDs have devastating effects on the family. They are difficult to diagnose, often missed and in many cases, fatal.
The real tragedy is that many LSDs are not diagnoses at all, or early enough.
There are now 6 LSDs which are treatable with biologically manufactured enzyme replacement therapy, Making the correct diagnosis and getting treatment can save someone life.
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