Hernandez-Storr’s debut deftly chronicles the advancement of scientific knowledge about Prader-Willi syndrome and its effects on families.
The author’s daughter was diagnosed with Prader-Willi syndrome at Cedars-Sinai Hospital in Los Angeles in 2002. Hernandez-Storr delves into the history of the condition and wonders whether it’s “a special hell for families.” Obesity and behavioral problems are two main challenges associated with PWS. Children with the condition are short, “floppy,” and notably overweight from age 2; boys also have underdeveloped testes. Most eventually have to be institutionalized. In this dynamic, journalistic account, Hernandez-Storr surveys the major events in the discovery of PWS, which was named after the two Zurich children’s hospital doctors, Andrea Prader and Heinrich Willi, who published a paper about it in 1956. Research eventually revealed either a microdeletion on chromosome 15 or two copies of chromosome 15 from the mother (an example of uniparental disomy) as the ultimate cause. The book handily alternates this layman’s history of the science of PWS with some case studies of families heavily involved in the Prader-Willi Syndrome Association. For instance, Shirley Neason, whose son Daniel had PWS and died at 14, was a founding member of PWSA and edited its newsletter, The Gathered View, from the mid-1970s. PWS patient Curtis Deterling’s progress gives an intimate view of the condition’s typical course. He struggled to follow directions at traditional schools and was later moved to various live-in facilities for people with developmental disabilities. The young man, however, was able to temporarily hold down a job and have a girlfriend. Although the book might seem to hold only niche appeal, the sense of genetic mystery is relevant to any disease’s evolution. In places, Hernandez-Storr gets too bogged down in PWSA conferences and leadership changes; better to avoid this more parochial material and maintain a focus on the universally applicable aspects of the syndrome—how it affects patients and families.
“I felt less alone after researching and writing this book,” the author asserts, and the same will certainly be true for readers affected by PWS.