GAUCHER DISEASE


GAUCHERS NEWS MARCH 2004


What We Can Achieve With Treatment
At the Gauchers Association's 6th Conference held in Manchester on 30 November 2004, Prof Timothy Cox described what can be achieved with treatment for people with Gauchers disease. (March 2004).

Children's Needs and Facing Adulthood
Dr Ed Wraith who runs one of the two paediatric, Gaucher Clinic at Royal Manchester Children's Hospital spoke about the needs of children and when they face adulthood at the Gaucher Conference on 30 November 20003. (March 2004).

Gill's Story: Handing Over
Gill's son Jon has Gauchers disease. In September 2001 he started university. He has been receiving enzyme replacement therapy since he was 11 years old. How does he manage his infusions away from home? Gill explained how she handed over this responsibility, at the Gauchers Conference in November 2003. (March 2004).

Bone Pain and Surgery
Dr Atul Mehta, who heads the Gaucher Clinic at the Royal Free Hospital, London, spoke at the Gaucher Conference on 30 November 2003 about the bone pain, disability and surgery which has affected patients with Gaucher Disease, and can still remain a problem. (March 2004).

Pregnancy in Gaucher Disease
In the past, some women with Gaucher Disease were discouraged from child-bearing and therapeutic termination was sometimes advocated due to feared risks to the mother. Despite this, many women with Gauchers disease have produced healthy babies, even before enzyme replacement therapy. Linda Richfield, Clinical Nurse Specialist at the Gauchers Centre at the Royal Free Hospital talked about pregnancy in Gauchers disease at the Conference on 30 November 2004. (March 2004).

The Development and Therapeutic Position of Substrate Reduction Therapy
Prof Timothy Cox described the development and therapeutic position of substrate reduction therapy and the first drug (Zavesca) of its type to receive marketing approval at the UK Conference held on 30 November 2003 and at the Dutch Conference held on 26 October 2003. (March 2004).

Israeli Doctors Jointly Presented with the Alan Gordon Memorial Award
Prof Ari Zimran and Dr Debby Elstein were jointly presented with the Alan Gordon Memorial Award at the Manchester Conference of the Gauchers Association on 30 November 2003. Dr Elstein received the Award on behalf of the two doctors who run one of the largest Gaucher Clinics worldwide at the Shaare Zedek Medical Center in Jerusalem. The Certificates with the Award of £1,000 was presented by Robert Gordon, the only son of the the late Alan Gordon who was the Gauchers Association's first treasurer. (March 2004).

Experience from over a decade in Israel
In the last 18 months, Prof Ari Zimran and our team have published many research ideas that have evolved over the past decade in our Gaucher Clinic in Jerusalem, said Dr Debby Elstein after receiving the Alan Gordon Memorial Award, won jointly with her colleague Prof Zimran awarded at the UK Conference on 30 November 2003. (March 2004).

Genetic Counselling
Genetic counselling means the communication of information and advice about inherited conditions in order to help an individual or family comprehend medical facts, including diagnosis, the probable cause of the disorder and the available management, explained Sian Goodwin, Clinical Nurse Specialist for Gaucher Services at the Royal Free Hospital, during her talk at the UK Conference on 30 November 2004. (March 2004).

A World of Difference
Gaucher Vereniging Nederland held its 20th anniversary Symposium on 24-25 October 2003 at Lage Vuursche in Holland. 120 delegates comprising patients, families, doctors, scientists, politicians and pharmaceutical companies heard speakers from Holland, the UK and Germany discuss the progress that has been made for many patients and the need to help those less fortunate than themselves. (March 2004).

Biochemical Markers
In Gaucher disease storage of glucosylceramide (glucocerebroside, the fatty tissue) takes place mainly in a certain cell type: the macrophage, explained Dr Ans Groener of the Dept of Biochemistry, Academic Medical Center, Amsterdam. (March 2004).

Every Disadvantage has its Advantage
This statement was quoted by the famous Dutch football player, Johan Cruyff, concluded Prof Hans Aerts of the Dept of Biochemics at the Academic Medical Centre of Amsterdam, at the end of the Dutch Conference on 25 October 2003. (March 2004).

Insurance - A personal view
There are four areas of insurance where people with Gaucher disease and their families may be interested: life, travel, long term care and pensions. (March 2004).

Independence
Dr Patrick Deegan, Senior Research Associate and Honorary Consultant at University of Cambridge and Addenbrooke's Hospital, spoke about the potential for independence by people with Gauchers disease . Dr Deegan sees patients at the Gauchers disease Clinic and is closely involved in the Bone Research Project. (March 2004).


Current and previous issues of Gauchers News and the alphabetical index


Associations Around The World
A list of addresses, phone numbers of Associations and contacts operating in 39 countries. Latest addition or change: March 2004.

E Mail Discussion List

Conferences

Physicians with experience of Gaucher disease

European Gaucher Alliance
The aims of the EGA are currently available in English, French, Spanish, Italian, German, Dutch, Swedish, Russian, Polish, Hungarian, Hebrew, Czech, Bulgarian, Romanian and Finnish translations.

Gaucher's Association Aims and Disclaimer

Other Relevant Web Sites

Contenido en español (Spanish translations).


DISCLAIMER
Please note that anyone who suffers from Gaucher's Disease or thinks they suffer from it should consult a physician who is experienced with dealing with the condition. The information included on these pages is intended to be useful to patients and physicians but it is no substitute for skilled medical advice.

Gauchers Association Web pages are designed and maintained by Wisebuy Internet.