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Neimann-Pick disease
I have a very close conection with this topic because my older brother was diagnosed with Neimann pick type c type 2 nonclasic. He was dignosed when he was 4 at the time that was early.
All children that are affected have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. A red spot in the eye that cannot be seen by the naked eye is a marker used to help diagnose a child with this disease. To properly diagnose someone the eye test and bloodwork must be done. Neimann pick is now one of the many genetic disorders tested for in infants at or shortly after birth Niemann-Pick disease has many forms the most commonly known are types A, B there are other forms such as type C1,

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