Saturday, December 20, 2014

Krabbe Disease facts

About Krabbe Disease

The information online is 30 years outdated.

It is genetic.  Neither Robert nor I have any family history.

1 out of 125 people carry the mutated gene.

Both parents must have the gene in order for their offspring to be an affected carrier.  There is a 25% chance their offspring will be an affected carrier (like William).  50% chance their offspring will be a non affected carrier (like Robert and myself).  25% chance for their offspring to be a non carrier.

There are over 100 different types of mutations for the same gene.

There is an adult onset Krabbe Disease.

There are two states that I know of that now test for Krabbe Disease as part of their newborn screening: New York and Pennsylvania.  Remember, it can be cured if treated before symptoms begin.

Krabbe disease can only be confirmed through a blood test after birth, not through amniotic fluid before birth.

1 out of 100,000 babies world wide are diagnosed with Krabbe each year.

I am 100% confident I will never win the lottery.

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