Q&A Part Three: Newborn Screening, Legislation, and Genetics

I am still so new to the Krabbe world, so I am sure there is more I could add that I don’t even know yet. If you think of more questions, please let us know!

Newborn Screening and Legislation

  • What states currently screen at birth? Are there other states considering legislation?

Judson’s Legacy does a great job of keeping the information current on this topic here.

These states have passed legislation to screen for Krabbe disease but the programs have yet to be implemented: Illinois, New Jersey, Pennsylvania, Kentucky, and New Mexico

These states currently test: Missouri (since 2012), New York (since 2006)

  • If your children have already had their newborn screenings and your state doesn’t screen for Krabbe, how can you get a supplemental test for Krabbe?
    You can order one here.
  • I asked about testing at the newborn screenings but they told me they won’t test for it; the doctor didn’t even know what I was talking about. She said the only way is if it is in our genetic line. So is this genetic? And can they refuse testing?

    Yes, it is genetic. However, we had no idea we were carriers! How would you know if it has never appeared in your family?

    This is why it is crucial that all 50 states (and every country, for that matter), test for Krabbe (and every possible genetic disease) at birth. It is a great use of taxpayer money.

  • If babies are screened as newborns, can they be treated? What is the treatment? 
    YES! They can undergo a stem-cell transplant, and the treatment has a 90% success rate. You can read more about treatment here.

Future Children and Genetics

  • What are the chances of having future children with this same disease if it is genetic?

    Brennan and I both carry the recessive gene that causes Krabbe. The chances are 1 in 4 for each pregnancy, but Dr. Escolar has found that, more often than not, families with one Krabbe baby will have another. The chart below from Hunter’s Hope shows the specific genetic odds.
  • Is the recessive gene something people can get tested for or is it only available for newborn screening? Why wait until birth – why not have this as part of the blood tests of at least mom if not both parents?
    The short answer is money. Most insurance companies will not pay for genetic testing unless there is a specific reason to be concerned. It is very expensive! Because it had never appeared in either of our families, we had no reason to think about genetic testing before having children. This has shown us the importance of knowing your genetics and DNA!

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