Friday, September 4, 2015

Fact #4

Leukodystrophy Awareness Month
Fact 4:
There was over 200 mutations of the GALC gene which result in Krabbe Disease.

Of those 200 mutations, they fall under four categories: early infantile onset (symptoms before 6 months old), late infantile onset (symptoms appear between 6 months old to 3 years old), juvenile onset (symptoms appear between the ages of 3 and 18 years old), then lastly an adult onset Krabbe Disease (symptoms appear anytime in adulthood).
With any category, it is unbeknownst that one is an affected carrier until symptoms begin. Then it usually gets delayed in a proper diagnosis as symptoms mimic other illnesses. Time is of the essence as Krabbe Disease is an aggressively degenrative disorder. The later the onset, the slower progressing the symptoms appear to be. William appeared absolutely normal until he was 3 months old then it took 2 additional months to get a proper diagnosis. I was crazy mom something-is-seriously-wrong-with-my-child for long enough to get some answers.

Again, it is estimated that 1 out of 150 people carry a type of GALC gene mutation.

Enough facts for one day.

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