Tuesday, September 8, 2015

Day 8

Leukodystophy Awareness Month
Day 8
One out of 150 people carry the Krabbe gene mutation.  They can be either an affected carrier or non-affected carrier.  This may sound redundant in my posts but for a disease no one has heard of, it affects a lot of folks whether they know it or not.  Of those that are carriers, most got “lucky”, like my husband and myself.  If we had been affected, we would had most likely died between the ages of 2-7 of respiratory failure (after losing our sight, hearing and any cognitive skills).  One out of 150 people carry the Krabbe gene mutation, approximately 2.1 million in the United States alone (based on the 2014 census).
Of all of the diseases, Leukodystophies seem towards the top of the list as the harshest.  Ironically, they are preventable if screened at birth.  It costs $50.00 to screen your child at birth with just a heal prick. Through the Supplemental Newborn Screening, you can ensure your newborn is screened for more than 60 disorders at birth, including Krabbe, regardless of where they are born. Order your newborn screening kit at:


You may have no other reason to test than that you want to (its your right).  I will say that of the folks that have asked about Krabbe and wanting their child screened at birth, they get a lot of strange looks from doctors (pronounced "crab-ay.")  Chances are they have never heard of Krabbe and the word “Leukodystophy” was a word they heard about once in a class several years ago.  Make a difference.  Tell your doctors, put it on their radars.  Please visit the link below to get more information on how you can screen your child and/or send a letter to your state representatives.  If you have already done so, awesome!  Follow up to see if they've taken action or put it in their "I'll get to that someday" pile of to-dos.


Food for thought:
“With an estimated 4 million babies born each year in the US, you mean to tell me, that with a 90% success rate of cord blood transplant arresting the symptoms of the disease and providing hope for a normal life...40 kids is not enough to provide that opportunity? So we do what? Sacrifice them?! If a building was on fire with 40 kids in it, are we not going in to save them because there is a 10% chance we may never reach them?” – John Neal, advocate for Krabbe families

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