Krabbe? Cancer? FASD?

Wisconsin, the state where I live, currently screens neonates’ blood for 48 different conditions (dhs). One recently in the news that is NOT screened for is Krabbe disease, despite the fact that the test costs only $4 (Fox 6 News). However, the U.S. Department of Health and Human Services recently added Krabbe disease to the Recommended Uniform Screening Panel, or RUSP, so there’s hope that it will be added in Wisconsin (Kenosha).

Krabbe disease is degenerative, which means it gets worse over time, and it typically results in death (Cleveland Krabbe). FASDs are lifelong conditions that can’t be cured (Cleveland FAS).

Krabbe disease affects about 1 in 250,000 live births in the US (Cleveland Krabbe).

Comparatively, FASDs affect about 1 in 20 live births in the US (Cleveland FAS). Yeah. That’s not a typo.

One legislator’s rationale behind not adding Krabbe disease to testing is that the false positives would unnecessarily alarm parents. Sure…they would…but the real positives would abundantly help parents and their babies, sooooo….

Another screening that could really help parents and their babies would be to determine the presence of alcohol in umbilical cord tissue. While it won’t DIAGNOSE Fetal Alcohol Spectrum Disorders, it would abundantly help over the long haul.

Could a false positive test for Krabbe disease unnecessarily alarm parents? Of course. But let’s consider genetic testing for inherited cancer risk. It doesn’t tell a person ze HAS cancer; it determines the risk for it and helps the person who screened positive to make life choices (cancer). In fact, “If you have [one of the two most well-known genes associated with breast cancer,] a BRCA1 or BRCA2 mutation, the National Comprehensive Cancer Network recommends surgery to remove the healthy ovaries and fallopian tubes (…) between certain ages to reduce ovarian cancer risk (35-40 years for BRCA1 and 40-45 years for BRCA2)” (breastcancer).

We’re talking about screening for a lifelong condition that can’t be cured that conservatively affects 5% of the population…1 in 20 live births!