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The Guardian - UK
The Guardian - UK
Science
Penny Warren

Jean Phillips-Martinsson obituary

Jean Phillips-Martinsson with her son Anders
Jean Phillips-Martinsson with her son Anders, whose illness prompted her to promote help for sufferers from Prader-Willi syndrome and their families. Photograph: IPWSO

In 1984 Jean Phillips-Martinsson, a British woman living in Sweden, came across an article in the Lancet. It was about Prader-Willi syndrome (PWS), a rare genetic condition named after Andrea Prader and Heinrich Willi, two of the three Swiss paediatricians who discovered it in 1956.

It was a lightbulb moment for Phillips-Martinsson, who had been in limbo for 14 years, wanting to know why her son, Anders, born in 1970, was floppy and unable to suck as a baby, and later had behavioural problems and was constantly hungry (hyperphagia). It turned out these are all key signs of PWS.

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