Most of us have no idea we carry Krabbe until we have a child born with it. For those families, if a subsequent pregnancy were to occur, they could be tested as early as 10-12 weeks to see if the child has the disease. If the tests are positive, they prepare for a stem-cell transplant and often induce labor at 35-36 weeks to ensure that there is little to no disease progression at birth. Someday they hope to do the transplant in utero without chemo, which will be easier for the child.
There is hope. In addition to stem-cell transplants (which have been done for 2-3 decades), gene therapy for Krabbe is on the horizon!
You’ll have to Google gene therapy if you want a more scientific explanation, but essentially it corrects a typo. Example: Krabbe is caused by a lack of the GALC enzyme, so imagine the gene was spelled GACL – close but not correct; gene therapy takes the patient’s own cells, corrects the typo to be GALC, and puts the cells back into the body. The body then begins to produce the necessary enzyme with no risk of rejection.
It’s an incredible treatment already being used for other leukodystrophies!
THIS fact is why we continue to fight for Newborn Screening for Krabbe.
Every baby deserves a chance at life. We have the technology to detect the disease AND effectively treat it if caught at birth, and yet only SEVEN states are screening (that slide is coming).
Owen, Tygh, Ezra, Michael, Lennon…these five babies were transplanted EARLY and are thriving! We won’t stop fighting until every baby is given the same opportunity for life. After all, we would have done anything possible to save Tori, and we want every parent to have that chance.
Tori began to show symptoms at five months. Krabbe hit fast and hard, and it robbed her of her smile, and other abilities, immediately. She went to Heaven at 20 months.
But, it didn’t have to be this way. Later this month you will learn about the importance of Newborn Screening and the treatment that is possible if Krabbe is caught at birth.
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…
