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Showing posts from December, 2018

Leeland Ezra

As some of you may know, Leeland was diagnosed with a genetic disorder called Nuerofibromatosis (NF1)  at 6 months. At the time he presented with 1 side effect (at 6 months) he is now 3 and between the time when he was first diagnosed and now he has shown 6 new signs of NF1.  Here’s a little info on Nuerofibromatosis.  Nuerofibromatosis is caused by genetic defects that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depends on the type of nuerofibromatosis. In this case neither my husband nor I carry the gene. And Leeland has NF1    NF1 gene is located on Chromosome 17 this gene produces a protein called nuerofibromin, that helps regulate cell growth. The mutated gene causes a loss of nuerofibromin, which allows cells to grow uncontrolled. What is NF1?  It’s a genetic disorder that causes tumors to grow on nerve tissue. —Brain —Spine —Nerves Tumors are usually benign, but can sometimes become ...