Jean Phillips-Martinsson, a British-born advocate who played a pivotal role in raising global awareness about Prader-Willi syndrome (PWS), has died. Her work was instrumental in connecting families affected by the rare genetic disorder and establishing an international network to support research and patient care.
Phillips-Martinsson’s journey began in 1984 while living in Sweden, when she discovered an article in The Lancet about PWS, a condition identified in 1956 by Swiss pediatricians Andrea Prader and Heinrich Willi. The syndrome matched the symptoms her son Anders, born in 1970, exhibited, including muscle weakness at birth, feeding difficulties, behavioral challenges, and insatiable hunger, commonly referred to as hyperphagia.
Her diagnosis enabled her to connect with four other families in Sweden also caring for children with PWS. This initial gathering in April 1986 at her home in Stockholm proved deeply emotional, highlighting the isolation many families faced. Recognizing that a national association would have limited impact due to the rarity of PWS—estimated to affect between one in 15,000 and one in 25,000 individuals—Phillips-Martinsson sought to create a broader, international organization.
That same year, she founded the Swedish Prader-Willi Syndrome Association. Drawing on her expertise in public relations and proficiency in multiple languages, Phillips-Martinsson began networking with emerging PWS groups in the Netherlands, the United Kingdom, and the United States. In 1986, she attended a conference hosted by the UK’s group, where she further deepened her connections.
In 1988, Phillips-Martinsson met American geneticist Dr. Suzanne Cassidy, who was pioneering work in identifying the genetic basis of PWS, linked to abnormalities on chromosome 15. At Cassidy’s initiative, and with Phillips-Martinsson’s organizational acumen, plans for an international conference were set in motion. The inaugural conference took place in the Netherlands in May 1991, bringing together 200 delegates from 22 countries.
During the conference, attendees voted to establish the International Prader-Willi Syndrome Organisation (IPWSO), with Phillips-Martinsson serving as its first president. She led the organization until 1998 and continued as honorary president thereafter. Under her leadership, IPWSO expanded its membership worldwide, promoting national organizations and advocating for coordinated scientific research, clinical trials, and improved diagnosis.
Phillips-Martinsson emphasized supporting families alongside researchers, dedicating conference sessions to caregivers’ concerns. Her efforts helped initiate regular international conferences every three years, foster information exchange through newsletters, and lobbied for access to genetic testing, particularly in under-resourced countries.
In 1992, IPWSO facilitated the opening of the first residential care center for adults with PWS in Sweden, where her son Anders was among the first residents. The organization also developed resources on managing diet, behavior, and education for individuals living with the syndrome.
Born in London, Phillips-Martinsson was the daughter of Emmanuel Phillips, a furrier who passed away when she was young. Educated in Switzerland and the UK, she worked in Paris for the Organisation for European Economic Development before settling in Sweden. Her diverse background in translation, PR, and journalism helped shape her approach to advocacy and international collaboration.
Jean Phillips-Martinsson’s legacy lies in transforming the once isolated experience of families affected by Prader-Willi syndrome into a connected global community, advancing research and care for future generations.