In this edition of the Guachers News read about the 6th Gauchers Association Conference, pregnancy in Gauchers disease, the issues facing Gauchers patients as they reach adulthood and some interesting tips for Gauchers patients seeking insurance cover.

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 Gaucher disease.
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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.
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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. This is her story:
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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.
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In the past, some women with Gauchers disease were discouraged from child-bearing and therapeutic termination was sometimes advocated due to feared risks to the mother. Despite this, many women with Gaucher Disease have produced healthy babies, even before enzyme replacement therapy. Linda Richfield, Clinical Nurse Specialist at the Gaucher Centre at the Royal Free Hospital talked about pregnancy in Gauchers disease at the Conference on 30 November 2004.
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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.
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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.
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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.
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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.
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The Dutch Gaucher Association (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. A report by Susan Lewis.
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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.
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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.
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The information on insurance which I can give you is limited by law as I am not registered with the Financial Services Authority to give advice on the subject, says Don Tendell, Treasurer of the Gauchers Association. 'I must recommend you to take advice from a registered person before you enter into any contract with insurers or pension providers.'
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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.
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