Krabbe Awareness Month: Day Five

Krabbe Awareness - 5

I moved from CA to PA, married a Pennsylvanian – we both carry the same genetic mutation (30kb deletion). We were told that the odds of that happening were incredibly rare given the distance between us. We were clearly meant to be. ❤️

This fact is one of the major reasons why we firmly believe that Krabbe should be included on every Newborn Screening test. We had no idea that we carried this fatal mutation – no one does unless someone in their family has been affected or they’ve had genetic testing.

Oh, how we wish we’d known…

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