I remember the doctor asking me if I would be okay with an eight inch scar on my forearm. I was seventeen, after all. Most teenage girls would probably stare … Continue reading Scars
South Carolina passed a bill after this image was created, so they will begin testing in the next 1-2 years.
Indiana expects to begin testing in 2020.
Pennsylvania will hopefully be testing by next year. We have a bill in the legislature (HB 730, numbered for Tori’s birthday) that will make screening equal throughout PA, and Krabbe will become mandatory. If you live in Pennsylvania, please contact your state representatives/senators and ask for their support!
Today was one of those days where everything made sense, once again. It was a day filled with non-coincidences (meaning that God was clearly at work because there’s just no … Continue reading It All Works Together for Good
Because Krabbe is an autosomal recessive mutation, the chances per pregnancy are 25% that the child will be affected, 50% that they will be a carrier, and 25% that they will be unaffected. That may seem like a low chance that a couple would have an affected child, but Dr. Escolar told us that she often sees repeats in families.
On diagnosis day we were told two things in the same minute: Tori had Krabbe and was dying, and that we shouldn’t have more children. We were devastated.
Thankfully, we found out about IVF as an option to have healthy children and our twins are not even carriers of Krabbe. ❤
There is HOPE for families like us to have more children, whether through IVF, adoption, or foster care. Krabbe doesn’t have to mean the end of your dream of having a family.
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.