A teenager’s apparent clumsiness foreshadowed a shocking diagnosis - News Summed Up

A teenager’s apparent clumsiness foreshadowed a shocking diagnosis


ADThree years later, when her daughter received the shocking diagnosis, Judy Kalnas immediately recalled statements her own mother had made decades earlier about another family. Jessica had Late Onset Tay-Sachs disease (LOTS), a progressive, incurable genetic illness. Unlike babies with Tay-Sachs, who have a telltale cherry red spot in their retinas, late onset cases can be very difficult to diagnose. Judy said Kolodny, one of the first scientists to describe late onset disease, was encouraging and realistic as he prepared them for what lay ahead. Speech therapy has been helpful for slurred speech, which is common among late onset patients.


Source: Washington Post July 18, 2020 14:03 UTC



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