History of PWSA UK
- hypotonia
- milestones retarded
- obesity at about two years
- dwarfism
- typical facies
- mental deficiency
- bone age retarded sometimes
- impalpable testes and hypoplastic scrotum
- diabetes
PWSA UK has been in existence as a charity since 1982 and in that time has seen many changes both in the Association and in the world of PWS.
The early years - 1960-1991
In the early 1960s, Dr Bernard Laurance was the first doctor in the UK to recognise the symptoms of the syndrome which we now know as PWS. At that time he was working as a consultant paediatrician at the Derbyshire Children's Hospital, and later moving to work in London. He provided the first building blocks of the Association by putting parents of his patients in touch with one another.
As the Association's first President, he helped our development in many ways: by attending conferences and giving talks, by spreading the word about PWS amongst medical colleagues, and by setting up a network of regional advisers. He also helped with the writing of the Association's first publications. It was a great loss to the PWS world when Dr Laurance passed away in 1994.
The following article is an abstract by Dr Laurance for a talk he gave at the first Medical Symposium on PWS hosted by the PWSA (UK) in Derby in 1991. Note that some of the terminology used in the article is now no longer used and our knowledge of the syndrome has now increased.
The Prader-Willi Syndrome and Association during the last thirty years in Great Britain
The first patient
The first baby, subsequently recognised to have the PW syndrome, was born at The City Hospital, Derby in 1954. He had the usual symptoms now recognised to be typical of the syndrome, including inability to suck. He was fed via a rubber tube (polyvinyl had yet to be invented) and, with expert nursing care, thrived, albeit slowly.
The next five patients
By 1960, five more patients with similar symptoms had been seen, and the findings were communicated to the Annual Scientific Meeting of the British Paediatric Association and subsequently published. The late Professor Fanconi, of Zurich, was at the meeting and reported that his lecturer, Dr Prader (as he then was) had reported similar cases in the German literature.
When Professor Polani came to Derby to collect blood for chromosome examination in his genetics laboratory at Guy's Hospital, London, the only such laboratory then in England, he at first thought that all six patients were from the same family because they looked alike. In fact, none of them were related. The chromosomes were normal, although the newer techniques had yet to be invented. Most of the patients now had voracious appetites and were very fat. The principle features recognised at that time are summarised here:
Subsequent findings
By 1981, 24 patients over the age of 15 had been seen and nine others had died between the ages of 3 and 23 years, principally from cor pulmonale. A voracious appetite and obesity were still their main problem. Other characteristics included scoliosis in 62% of those alive. The cause still eludes us. Most had a straight ulnar border of their hands, cause also unknown. The principle endocrine disorders were established with the help of my colleague, Dr William Jeffcoate, now endocrinologist in Nottingham.
The PWSA (UK) is started
The endocrine investigations were done on two or three patients at a time. The obvious delight of their parents in meeting others with a similar complaint led to 32 families meeting at the Institute of Child Health of Great Ormond Street Hospital in 1980 which was organised with the help of Dr David Grant and Mrs Helen Perrin. The latter continued a newsletter started for 8 families by Mrs Ann Worthington and so the association grew.
Medical research
As funds have grown, the Association has generously supported further delineation of the deletion of chromosome 15 recognised to occur in approximately half of PW people. Other research has concentrated on energy expenditure, the timing of the change from a very poor appetite to the opposite, and the place of growth hormone treatment. Mrs Jackie Waters, Information Officer, has analysed many of the problems experienced by our members and their families with the aid of postal questionnaires (let me stress how valuable are your replies!) and the curious insensitivity to anaesthetics. Finally, speech problems and the many behavioural problems are being vigorously examined.
1990s to the present day
Working from home
In the early years of the Association, most of its work was carried out voluntarily from their own home by Trustees, firstly Jan Williams (now Taylor) - the first Hon Sec of the Association, and then Rosemary Erskine (now Johnson), and Jackie Waters. At this time the Association was chaired by Ralph Williams, Jan's then husband, and then by Roger Alderman, Jan's father. In 1991, the Association recognised that the work had grown to such an extent that it was impractical to rely on voluntary help, and thus employed its first three part-time staff members.
Rosemary Erskine and Jackie Waters resigned from the Trustee Board to become Welfare Services Coordinator and Information and Resources Coordinator respectively. They were joined by Mrs Alex Williams as Development Director. All three continued to work from a home base, but Rosemary in particular travelled the length and breadth of the country talking to parents and professionals. During most of this time, the Chair was Julien Courtauld, one of the founders of the Association.
Under Alex Williams' direction, and with help from the Trustee Board, the Association continued to grow. On his death, Dr Laurance, who had been a continual source of help, was succeeded as President by Professor Victor Dubowitz and then in 1998 by Professor Tony Holland, our current President. Professor Holland, following Dr Laurance's lead, has instigated many important pieces of research on PWS.
An office is opened
Alex Williams left the Association in 1995, and in 1996 the first ever office - actually two small rooms sub-let from another charity in Derby - was opened, under the chairmanship of John Booth. Rosemary Erskine continued to work from home, while Jackie Waters divided her time between home and the office, which was manned part-time by new staff member, Roger Morbey.
In 1999, the Association appointed its first Chief Executive, Narinder Sharma, who was followed by Leigh Vallance in 2011. We moved into offices at Queen's Hall, London Road, Derby in 2002, where the Association is still currently based.
The last 10 years
Over the last 10 years the staff team has grown to a core number of around 10 people - various posts have come and gone in that period, mainly due to short-term project funding. Most staff work from our Derby office, but currently we have two part-time workers based in Belfast (covering Northern Ireland and Scotland) and Cardiff (covering Wales and the South West of England).
John Booth was succeeded as Chair in 2001 by Ray Wilcox, but when Ray became ill in 2006, John resumed as Chair. Ray sadly died not long after, and is much missed. His abiding legacy to the PWSA was his championship of our website. In 2009, our current Chair, Maria Jordan, came into post.
The Association continues to develop and grow, and has become one of the foremost rare disease organisations in the UK, thanks to the work of many more people than we have mentioned here - in fact, too numerous to mention - who have given tirelessly of their time and energy. To them all, THANK YOU.
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