Rare Disease Day, 28 February - International Prader-Willi Syndrome Organisation

23 February, 2021

The International Prader-Willi Syndrome Organisation (IPWSO) is among the many organisations that seek to raise awareness on Rare Disease Day, which occurs on February 28th. [https://www.rarediseaseday.org/]

Prader-Willi syndrome (PWS) occurs in 1 in 15,000 to 25,000 births. It affects all races and both sexes. Babies with PWS present with slightly low or normal birth weight, poor suck with subsequent failure to gain weight, very limp muscles, and delayed developmental milestones.

Often from as young as two onwards, a marked increase in appetite and compulsion to eat (hyperphagia) are seen. Life becomes dominated by a voracious appetite and drive for food. This drive will result in obesity if access to food is not restricted. Other characteristics associated with PWS include short statue if not treated with growth hormone, scoliosis, intellectual disability, behaviour and mental health problems, and sleep apnoea.

IPWSO provides a range of supports to people with PWS, their families and those who work with them. These include free diagnostic testing services, free online training, grants to host or attend PWS conferences and workshops, and an advice service. IPWSO welcomes contacts from any medical professionals around the world who work with people with PWS at office@ipwso.org

IPWSO’s most recent blog post highlighting the lives of people with PWS in Thailand, Georgia, Colombia and Romania can be read here: https://ipwso.org/celebrating-the-lives-of-people-with-pws-this-rare-dis...

HIFA profile: Marguerite Hughes is the CEO, International Prader-Willi Syndrome Organisation, UK, and is based in Ireland. Professional Interests: serves as an umbrella body for national Prader-Willi syndrome organisations in 37 countries and supports people with Prader-Willi syndrome and their families in over 100 countries. IPWSO offers free diagnostic testing for Prader-Willi syndrome, supports conferences and workshops around the world, providers telementoring based on the Project ECHO methodology, supports research and engages in advocacy on behalf of people with Prader-Willi syndrome and other rare disorders. IPWSO is a HIFA supporting organisation. Email address: mhughes@ipwso.org