Saturday, December 20, 2014
Krabbe Disease facts
The information online is 30 years outdated.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.