PUMPA: its background, aims and objectives

PUMPA is a registered charity and support association for purine metabolic patients. It was founded towards the end of 1992 by a small group of patients and friends to help patients and their families who suffer from any of the twenty-eight hereditary purine or pyrimidine metabolic disorders.

We became a registered charity in March 1993 and are governed by an Executive Committee of Trustees, elected at its Annual General Meeting, who work voluntarily.

We seek to improve the care of patients and help families by advancing knowledge of purine metabolic disorders at every level amongst the public and medical profession. We do this by:

Support Patient Support Officers can put patients in touch with similarly-affected families and give them all the relevant information they can about the disease and the help available.

Spread of knowledge Members receive a regular newsletter, entries are placed in appropriate directories and articles are written for the medical and general press. This website is being developed both to disseminate information and to collect and collate data on the disorders from all parts of the world. Each of our AGMs is accompanied by a seminar for non-specialists on one of the twenty-eight diseases where patients and families can meet, discuss experiences, learn about the unit’s research, and raise points they feel should be investigated. PUMPA intends to publish the subject matter of these seminars in the future.

Research What patients most want is a cure. They’ve said so. The world’s leading diagnostic and research unit in this field is at St Thomas’ Hospital, London, and PUMPA has therefore concentrated on raising funds to keep it running. Recent PUMPA-supported work has included a study of the neurological implications of Lesch-Nyhan Disease.

PUMPA gets the money to continue its work by appeals, subscriptions and fund-raising efforts of many kinds – sponsored marathon-running, charity concerts, receptions, lectures, guided tours, bridge drives, etc. Much more money is still needed to build up reserves to supplement financial commitments planned for the future.