GAUCHER DISEASE

ARCHIVE SITE FOR GAUCHER DISEASE

Most of the information on this site is still useful but it is no longer the official site of the Gauchers Association which can be found at www.gaucher.org.uk.


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Alphabetical Index

Autologous Blood Transfusion: Donating your Own Blood for Yourself
Donating your own blood prior to planned surgery has become a common procedure in the USA and is a subject that a number of patients with Gauchers disease have investigated. This is a summary of the advantages and risks. (April 2003).

Bone Disease

Central funding for therapy as well as for Gaucher centres in UK
The Dept of Health announced on 28 October 2004 that for two years, from April 2005 to March 2007, Cerezyme and Zavesca prescribed for patients with Gauchers disease will be centrally funded by the Dept of Health under the auspices of the National Specialised Commissioning Advisory Group (NSCAG). Previously the cost of the two therapies was paid for by patients' local health authority or Primary Care Trust. (May 2005).

The Changes in NHS Funding of Gauchers Disease
Geoff H Apperley, a Commissioning Manager at Addenbrooke's Hospital, explains the changes in funding for the treatment of Gauchers disease and other lysosomal storage diseases since April 2005. (June 2006).

Chairman receives OBE
Jeremy Manuel Chairman of the Gauchers Association, was awarded the OBE for services to the Gauchers Association in the UK New Year's Honours List for the year 2000. (February 2000).

Children and Gaucher Disease

Conference reports
Not listed under other categories.

Disabled Living Allowance: Have Another Go!
One of our members with Gaucher Disease has unexpectedly been successful in obtaining the Mobility Component of Disability Living Allowance after trying for two years. (August 2000).

Dr Patrick Deegan: New Appointment
Dr PatrickDeegan has been appointed as a full-time NHS Consultant at Addenbrooke's Hospital in Cambridge where he will serve as a physician in General Internal Medicine and Metabolic Diseases. (June 2006).

Duke of York Meets Gauchers Association
(August 2000).

Statutory Benefits in the UK (January 1999)

Enzyme Replacement Therapy

European Gaucher Alliance

Families Worldwide
The Gauchers Association is a charity providing information and support to Gaucher's patients and their families in the UK and Ireland. That is our remit. However due to the Association's large web site, E-mail and fax facilities, from time to time we receive requests, many heartbreaking, from Gaucher's families around the world seeking help. (November 1997). (Deutsche).

Donations to the Gauchers Association

Gauchers Disease: Good Housekeeping
An open meeting about Gauchers disease, how it is inherited, what the symptoms are and how patients can be treated took place at the Royal Free Hospital, London on 27 March 2003. (October 2003).

Gaucher Disease in Bulgaria
Eight million people live in the East European ex-communist country of Bulgaria. Last year the National Gauchers Association of Bulgaria was founded to help five children and three adults already diagnosed with Gaucher disease obtain information and treatment. In April 2001, 45 well-known local artists donated 110 paintings for a charity exhibition to raise money for the Association and the following day a meeting covering the medical and psychological aspects of the disease was held for families and their medical advisers. (September 2001).

Gene Therapy

Genetic Defect Linked to Structural Defect
Scientists at the Weizmann Institute in Israel, together with an American team based at the Scripps Research Institute in California, have succeeded for the first time to link the specific structural genetic mutations in Gaucher disease to the resulting mechanical dysfunction of the enzyme glucocerebrosidase. (December 2005).

Home Infusions

House of Commons Reception for New Book on Gaucher's Disease
Anne Begg MP hosted a Reception at the House of Commons to celebrate the publication of the most up to date medical text book on Gaucher's disease. Secretary of State for Health, Frank Dobson MP, was one of 90 guests. (July 1998).

Incidence of Gaucher Disease in the UK (Revised February 1999).

Insurance

Kate Lorig's Story: From Gauchers Disease to developing Self Management Courses Worldwide
Dr Kate Lorig, is a Professor of Medicine and Director of the Patient Education Research Center at Stanford University in California where she has developed a successful self management programme which has helped thousands of people suffering from long term conditions in may parts of the world. She also has Gauchers disease. (October 2003).

Living with Gaucher Disease
A guide for patients, parents, relatives and friends with a detailed explanation of the disease compiled by the NGF in association with Genzyme Corporation in 1991 and published on the Word Wide Web by Massachusetts General Hospital. (Italiano)

Medical Management of Gaucher Disease: Ask the Experts
Dr John Barranger, Dr Roscoe Brady, Dr Gregory Grabowski, Dr Pram Mistry, Dr Gregory Pastores and Dr Raphael Schiffmann made up the Panel of Experts at the US Gaucher Conference in Arlington, Virginia, USA on 1 October 1999. (February 2000).

Medical SOS Jewellery

Mistry Appointment
Dr Pram Mistry was appointed Chief of Pediatric Hepatology and Gastroenterology at Yale University on 1 October 2005. He will continue to see patients with Gauchers disease at his dedicated Gaucher Centre in New Haven and visit his outreach clinic in Arizona amongst his many other duties. (December 2005).

National Collaborative Research
The UK's four National Gauchers Centres at Addenbrooke's, the Royal Free, Great Ormond Street and the Royal Manchester Children's Hospital have proposed a joint collaborative research project to major on the impact of bone complications on sufferers of Gaucher disease, at the request of the Gauchers Association. (February 2000).

Neuronopathic Gaucher Disease

New Treatments Under Development

New book on Gaucher Disease Edited by Professors Ari Zimran and Tony Futterman.
(December 2006).

News from the Netherlands
Dr Hans Aerts Associate Professor at the Department of Biochemistry, University of Amsterdam spoke to members of the Gauchers Association on 9 October 1996 at the Royal Free Hospital, London. (Deutsche).

News from Around Europe
Delegates from patient associations in 15 countries attended the European Gaucher Alliance meeting which followed the European Working Group on Gaucher Disease (EWGGD) scientific meeting in Prague in May 2002. (October 2002).

News from the Gaucher Centres

The Politics of Gaucher Disease in Europe
Prof Timothy Cox of the Department of Medicine, University of Cambridge at Addenbrooke's Hospital spoke at the EWGGD Conference on the Politics of Gaucher disease in Europe. (May 2005).

(September 2001).

Pregnancy and Childbirth

Old Articles
Here are articles which are now out of date or no longer of current interest.

Pain Management

Patients' Experiences - Individual Stories

Quality of Life in Patients with Gaucher Disease on Long Term Enzyme Replacement Therapy in Holland
Ria Guijt has suffered from Gauchers disease since she was a child. She is a qualified psychologist and is currently Vice-President of the Dutch Gaucher Association. Together with Mineke Ek, Research Nurse at the Amsterdam Medical Center, Ria has researched the quality of life of Dutch patients since they started enzyme replacement therapy. (October 2002).

Questions and Answers about the UK National Gaucher's Centres
The four centres look after over 270 patients with Gaucher disease. How they work and how they relate to your own local doctor. (October 2002).

Questions & Answers at the Gauchers Association's 1999 Conference.
Many important questions were posed to Dr Ed Wraith and Prof Timothy Cox by members of the audience and it was apparent how knowledgable many of the families were. (July 1999).

Regional Contacts in the UK

Research at Scripps Institute, California
Dr Beutler is in charge of a team of scientists who have access to the latest technology and resources to advance their work on Gaucher Disease. (February 1997). (Deutsche).

Screening and mutational analysis for Gaucher Disease

Simple Guide to Gaucher Disease
An informative, simple but mind-provoking guide to Gaucher disease was given by Dr Paul Schofield, Consultant Physician at Addenbrooke's Gaucher's Clinic, as an introduction to the Gaucher's National Workshop in March 1998. Using computer graphics and easy to understand language, Dr Schofield talked his way through what happens inside the bodies of Gaucher's patients. (July 1998 and January 1999).

The Spleen

In Memory of Susan Lewis
Co-founder and Executive Director of the Gauchers Association for its first 14 years.
(July 2007).

Susan Lewis Retires as Executive Director. Tanya Collin-Histed to take over
Susan Lewis retires as Executive Director of the Gauchers Association on her 60th birthday. Tanya Collin-Histed, who is already a Trustee and Executive member, will take over her post. Tanya is well known for her work for children with neuronopathic Gaucher diseasel. She writes a special letter to all her friends and colleagues. (May 2005).

Tenth Anniversary of the Gauchers Association 1991-2001
Susan Lewis looks back on the last decade with gladness, gratitude, some sadness and hope for an even better future. (September 2001).

Tests for Gaucher Disease

Treat Patients as Individuals
Talk by Dr Jack Goldblatt, Genetic Services Director of Western Australia, given in London in April 1996.

Type 2 Gaucher Disease

Type 3 Gaucher Disease

Weizmann Institute Scientists Solve the 3-D Structure of the Enzym involved in Gaucher Diseasee
A team of scientists at the Weizmann Institute in Israel has solved the three-dimensional structure of the enzyme, glucocerebrosidase, which is deficient in sufferers of Gaucher disease. The scientists claim that the study, published recently in a journal of the European Molecular Biology Organisation (EMBO Reports), may lead to the design of new therapies for treating the disease. (October 2003).

What's in a Gaucher Cell
Mary-Teresa Moran spoke on 29 November 1998 to members of the Gauchers Association about the research she is conducting at the Department of Medicine at the University of Cambridge into the role of gene expression (activity) in Gaucher's disease and the exciting discoveries she has made in. (January 1999)

Professor Zimran Talks about Gaucher Disease while in London and Cambridge. (July 1998).


Bone Disease

Update on Bone Research Study
Through the tremendous efforts of members, friends and families, the target amount of £162,000 has been raised for the Research Study into Gauchers Disease at the four UK Gaucher Centres. The Gauchers Association would like to thank everyone who has made this possible. Dr Patrick Deegan gives an update on the project. (June 2006).

Update on National Bone Study in Gauchers Disease
The National Bone Study is funded by the Gauchers Association. (December 2005).

Orthopaedic Aspects of Gauchers Disease
Professor Henry J Mankin MD, former Chief of Orthopaedic Service, Massachusetts General Hospital and Professor of Orthopaedics in Harvard Medical School visited the Royal Free Hospital, London to present a lecture. (December 2005).

Alendronate (Fosamax) for bone disease in patients with Gaucher Disease - results of trial
Dr Gregory Grabowski is a Professor of Paediatrics, Molecular Genetics, Biochemistry and Microbiology at the University of Cincinatti. He, together with Dr Richard Wenstrup, have recently completed a trial using the bisphosphonate drug Fosamax on patients with Gaucher disease and gave the following results at the US Gaucher Conference on 11 October 2003. (April 2003; updated october 2004).

Bone Pain and Surgery
Dr Atul Mehta, who heads the Gaucher Clinic at the Royal Free Hospital, London, spoke at the Gauchers 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).

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 and including a report on the new bone research project (March 2004).

Bone Research Starts
A national survey and intervention study of bone complications in Gauchers Disease starts this autumn funded by the Gauchers Association. The three year study will involve UK patients in all the four UK national Gaucher centres. (October 2003).

Non-Cemented Hip Replacements in Patients with Gauchers Disease
The successful outcome of non-cemented hip replacements in patients with Gaucher disease was presented by Dr Menachem Itzchaki, Consultant Orthopaedic Surgeon to the Gaucher Clinic at the Shaare Zedek Medical Center in Israel, at the EWGGD meeting on 1 May 2002. (October 2002).

Bone Complications and Launch of Research Project
Prof Timothy Cox began his talk at the 5th Conference by describing the distressing symptoms of bone complications and then described the exciting Collaborative Bone Research Project to be undertaken by the four UK Gauchers Centres. (March 2002).

Ozone Therapy
Prof Ari Zimran spoke about the research he has carried out into ozone therapy to aid pain control in people with Gaucher disease. (March 2001).

Understanding Gaucher Bones
Dr Henry Mankin spoke about the bone complications of Gaucher disease at two talks: one at the Royal Free Hospital, London on 9 November 1999 and the other at the US Gaucher Conference in Arlington, Virginia on 3 October 1999. Dr Mankin is Chief of the Gaucher Disease and Bone Cancer Program at Massachusetts General Hospital in Boston, USA and has served as Chief of Orthopedic Surgery and Professor of Orthopedics in Harvard Medical School. This is a summary of both talks. (February 2000).

Bone Disease and Advances in Treatment
This is a summary of his talk by Prof Timothy Cox at the Conference in Manchester, UK on 25 April 1999 where he reviewed present, future and past treatments for Gaucher's disease and the problems that patients still have to cope with. (July 1999).

How Do You Manage Bone Pain?
Most people with Gaucher disease suffer from pain sometime during their life. It can be an acute, agonising bone crisis, often described as a heart attack in the bone, the persistent ache from damaged bones and stiff, inflamed muscles or perhaps a sharp hot pain. Have you found a way to relieve, control or live with that pain apart from taking pain killers ? (July 1999).

Low-dose Enzyme Replacement Therapy and its effect on Bones
A report of new research by Dr Deborah Elstein and others showing low dose therapy is as effective as high dose therapy on bone disease as well as for all other symptoms. (September 1996).

Bone Crises - A Poem


Children and Gaucher Disease

A Mother's Story: Our Bubbly Little Boy
Henry, pictured on the front cover, was diagnosed with Gauchers disease Type 1 just before his fourth birthday. His mother Lucy tells their story. (June 2006).

Julie's Story: Our son Sam has Gaucher Disease

Sam was diagnosed when he was three years old in January 2002. The trauma that his mother Julie and father Steve went through until his diagnosis is told here by Julie. (October 2004).

When and How to Tell Your Children: Psychologists speak to Type 3 Families
When and how parents should tell their child and their other children about the child's diagnosed condition was discussed by two paediatric psychologists at Great Ormond Street Hospital for Children. (October 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).

The Situation in Romania
Daniela is 13 years old and has Gaucher disease. She was carried into the Romanian Gaucher Patients Meeting held in Cluj-Napoca on 4-5 July. She could not walk because of a severe bone crisis. She also had a high temperature. She had started Cerezyme in October 2002 but the dose was reduced as money to pay for it ran out. When we met, her parents felt there was no hope of future therapy for their only child. (October 2003).

Davide's Story: From Italy to Romania, he travelled to describe his Experience with Gaucher disease
Davide age 22 is Italian and travelled to the Romanian Patient Meeting in July to tell his new friends about his own experience of living with Gaucher disease. (October 2003).

From Russia With Love
This is a letter from Yulya who travelled to Israel from Russia two years ago to receive treatment.

A Parents' Story: Our Son has Gauchers Disease
Sharon and Alan's 19 year old son Jamie was diagnosed with Gauchers disease last July. Prior to Jamie's diagnosis, he had been fit and well so the result was a shock to the family. They felt guilty and upset. (April 2003).

HOW THINGS WERE: Melanie's Story A Splenectomy Three Months After My Son's Birth
Melanie, now aged 44, told her story of pain and hope over the past 30 years at the Association's Conference on 11 November 2001. Her brave story should be compared with how she would have been diagnosed and treated if she had been born 25 years later, as in Emily's case which is described in the next story. (March 2002).

HOW THINGS ARE: Emily's Story
Growing up with Gauchers Disease

Emily was diagnosed when she was 13 years old but fortunately started Cerezyme soon after. She is now a beautiful young woman aged 18. Her story is an example of how enzyme replacement therapy has enabled her to fulfil her potential and contrasts with Melanie's story on the previous page. She also told her story at the Conference. (March 2002).

Children with Gauchers Disease
Dr Ashok Vellodi,who runs the paediatric Gauchers Centre at Great Ormond Hospital for Children and is pictured below, spoke about children with Gauchers disease at the 5th Conference. He said that his Centre and that of Dr Ed Wraith at the Royal Manchester Children's Hospital worked closely together and within common guidelines. (March 2002).

Tanya's Story: Coping with a Child with Chronic Neuronopathic (Type 3) Gauchers Disease
Tanya Collin-Histed is the Gauchers Association's representive for neuronopathic Gauchers disease and was presented with the Alan Gordon Memorial Award for her work and achievements in helping families with this form of the disease. She described her own personal story of challenges and opportunities at our 5th Conference in November 2001 . (March 2002).

Dawn's Story: 'Although Gaucher disease is part of me, I will not let it rule who I am'
Dawn was 10 years old when she was diagnosed with having Gaucher disease. After nearly 10 years of enzyme replace-ment therapy, she is planning to become a solicitor and is in her final year at university studying law. (September 2001).

Vladimir's Story: We have had to fight many battles to get treatment
Vladimir Tomov is Chairman of the National Gaucher Association of Bulgaria. His 14 year old daughter Radoslava, has Gaucher disease. Radoslava is very pretty but her pale complexion and enlarged stomach, which she carefully hides behind loose clothing, gives testimony to her need for enzyme replacement therapy. (September 2001).

Parental Leave and Family Fund Trust
Parents of disabled children are to benefit from new measures introduced by the UK Department of Trade and Industry to come into effect later this year. (September 2001).

Children with Gaucher Disease
Dr Paige Kaplan, who heads the Gaucher Center at the Children's Hospital of Philadelphia, spoke about the symptoms and problems of children with Gaucher Disease at the National Gaucher Foundation Conference on 12 November 2000. (March 2001).

Victoria's Story
(August 2000).

Children and Gaucher Disease
Dr Ed Wraith is Consultant Paediatrician at the Royal Manchester Children's Hospital and is in charge of the Gaucher's Clinic there. The following is a summary of his talk at the Conference on 25 April 1999. (July 1999).

Tara's Story: 'She was very small and square and had no waist'
Tara is now 13 years old but it took her mother Margaret a long time to find out what was wrong with her daughter. Unfortunately during this process Margaret discovered that Tara's youngest sister Aisling also has Gaucher's disease. (July 1999).

Type 1 Children
Two sessions at the March 1998 National Workshop in London were devoted to children with Type 1 Gaucher's disease and their parents, at the Workshop. Gill Ian mother of a Type 1 boy diagnosed aged 6 years and now 15, facilitated the groups. Dr Ed Wraith paediatric consultant in the charge of the Gaucher's Centre at the Royal Manchester Children's Children's Hospital, participated in the first session. (July 1998).

Type 3 Sessions
The three Type 3 sessions at the March 1998 National Workshop were attended by a small number of families and medical staff. (July 1998).

Children and Gaucher Disease
Dr Ashok Vellodi has wide experience in lysosomal disorders. He looks after 16 children with Gaucher disease at Great Ormond Street Hospital for Children where he is a full-time Paediatric Consultant. The following is a summary of Dr Vellodi's talk at the Association's Third Conference in February 1997. (Italiano) (Deutsche).

Family Day in London
On Saturday 5 September 1998 Tanya Collin and her 4 year old daughter Madeline who has Type 3 Gaucher's disease, travelled to London to a Family Day for all the children and their families who attend the Gaucher's Clinic at Great Ormond Street Children's Hospital. The day had been organised to provide an opportunity for families to get together to meet in an informal atmosphere and talk about Living with Gaucher's Disease. Tanya is the Type 3 Representative for the Gauchers Association. (January 1999)

Family Day in Manchester
On Friday 10 July 1998 the Royal Manchester Children's Hospital also held a Family Day. The 14 children who attend the Gaucher's Clinic there had been invited. (January 1999)

Action for Sick Children
A series of leaflets on how you can help children cope with pain and needles as well as going into hospital has been published by the charity, Action for Sick Children. (November 1997). (Deutsche).

Children with Gaucher Disease
Dr Woolley describes cases he has treated in Wales. As reported to the Gauchers Association Conference, London, November 1994.

Living with Type 3 Gaucher Disease: Maddie and Tanya's Story
Maddie was born on 22 September 1994 and until she was 15 months old she did not even suffer a cold. But in December 1995 everything was to change. Her mother Tanya tells her story. (November 1997). (Deutsche).

Children with Gaucher Disease - Parents' Views
Report of a meeting of parents at the NGF Conference, Philadelphia, November 1994.

Davide's Story: Children Would Not Play With Him

Growth Patterns in Children
Report of a talk by Dr Paige Kaplan at the NGF Conference, Philadelphia, November 1994.

Jon's Story: His Mother Gill Shares Their Joy, Hope and Fears

Nicola's Story: I want to Get Out of my Wheelchair

Raul's Story: Son Gave Him Courage

Shevi's Story: Two Plaster Casts, One from my Waist to my Toes

Tomas's Story: He Can Now Skate and Play Football


Conference Reports

Russian Patient Association meeting
100 delegates including families, physicians, patients with Gauchers disease, Ministry of Health personnel and patient representatives from 10 European Gaucher Associations met in Moscow for the first meeting of the Russian Patient Association on 15 - 17 May 2005. (December 2005).

Romanian Patients Meeting 2005
(December 2005).

Princess Sana Asem hosts the Jordanian Gaucher Association Dinner
(December 2005).

European Working Group on Gaucher Disease - Sixth Workshop in Barcelona
Two hundred delegates including physicians and other medical staff, scientists, pharma-ceutical companies and patient representatives from 17 European Gaucher Associations met at the sixth workshop of the European Working Group on Gaucher Disease. (May 2005).

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).

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).

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).

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).

Gaucher Disease Conference, Arlington, Virginia, USA, October 2002
A Conference on Gaucher disease was held in Arlington, Virginia, US on 11-13 October 2002 alongside the Annual Conference of NORD (National Organisation for Rare Diseases). (April 2003).

Dr Roscoe Brady Oxford Lecture
Dr Roscoe Brady returned to England in February 2003 to lecture on 'The Past, the Present and the Future of Sphingolipid Storage Disorders' at the Oxford University Museum of Natural History. (April 2003).

Quality of Life in Patients with Gaucher Disease on Long Term Enzyme Replacement Therapy in Holland
Ria Guijt has suffered from Gauchers disease since she was a child. She is a qualified psychologist and is currently Vice-President of the Dutch Gaucher Association. Together with Mineke Ek, Research Nurse at the Amsterdam Medical Center, Ria has researched the quality of life of Dutch patients since they started enzyme replacement therapy. Ria related the results at the meeting of the European Working Group on Gaucher Disease in Prague on 2 May 2002. (October 2002).

5th European Working Group on Gaucher Disease Workshop
The European Working Group on Gaucher Disease (EWGGD) held its 5th Workshop in Prague in Czech Republic on 1-4 May 2002. (October 2002).

The Unpaid Debt of Science to Medicine
Prof Timothy Cox used the location of the EWGGD meeting in the Czech Republic to highlight his opening lecture on European scientific thought that had developed in Europe since the years of the Enlightenment in the 17th - 18th Century when the basic conviction was that through reason mankind could find knowledge and happiness. (October 2002).

Third Alan Gordon Memorial Award
On Saturday 10 November 2001 at the Association's 10th Anniversary Celebratory Dinner, Gloria Gordon, widow of the late Alan Gordon, presented Tanya Collin-Histed with the 3rd Alan Gordon Memorial Award in recognition of her outstanding work in helping families with neuronopathic Gauchers disease. (March 2002).

Celebration to Share the Successes of the Last Ten Years
The Gauchers Association celebrated its 10th Anniversary on 10 November 2001 with over 115 guests at a special Dinner held at the Wembley Plaza Hotel on the outskirts of London the day before the Association's 5th Conference. (March 2002).

Prof Ari Zimran Talks About Gaucher Disease in Sofia
Prof Ari Zimran, who heads the Gaucher Clinic at the Shaare Zedek Medical Centre in Jerusalem, addressed the audience of doctors, families with Gaucher disease and others during his visit to Bulgaria. (September 2001).

National Gaucher Foundation Conference September 2000
About 180 individuals with Gauchers disease and their families attended a two day Conference in Arlington, Virginia, USA on 12-13 November 2000 to hear experts from the USA and Israel talk about the latest information on Gaucher disease. (March 2001).

Israeli Gaucher Association Meeting 2000
The Israeli Gaucher Association Meeting was held on 5 September 2000 in Jerusalem to which delegates from the European Gaucher Alliance meeting were invited. Dr Gregory Grabowski spoke on 'Summarising 10 years of Enzyme Replacement Therapy' and Prof Ari Zimran on 'New Therapeutic Approaches to Gaucher Disease'. (March 2001).

US Gaucher Conference October 1999

Bone Disease and Advances in Treatment for Bones and the Disease Generally
This is a summary of his talk by Prof Timothy Cox at the Conference in Manchester, UK on 25 April 1999 where he reviewed present, future and past treatments for Gaucher's disease and the problems that patients still have to cope with. (July 1999).

3rd European Working Group on Gaucher Disease
One hundred and six delegates from 21 countries attended a three day Scientific Meeting from 20-23 May 1999 in Lemnos in Greece. The scientific programme was divided into several sessions with expert scientists and doctors from around the world covering different aspects of Gaucher's disease including its symptoms, assessment, management and therapy. (July 1999).

Gaucher Disease Conference in Memphis USA
A three day conference on Gaucher's disease took place in Memphis, Tennessee on 10-12 October 1998, writes Susan Lewis. Over 50 delegates attended from all over America as well as Italy and the UK. Talks were given on Medical Management of Gaucher Disease by Dr Pram Mistry, My Aching Bones and Fosamax by Dr Gregory Grabowski, Quality of Life/Hidden Issues by Dr Joan Esplinand Gene Therapy: The Next Frontier by Dr Pamela Becker. (January 1999)

Gaucher National Workshop: More Time To Talk
The Gauchers Association held its first National Workshop and 6th Annual General Meeting on 29 March 1998. After the Annual General Meeting and an illuminating talk by Dr Paul Schofield, the day was divided into 15 Group Discussions with doctors and families equally participating. Gloria Gordon, one of the facilitators and Committee Member, gives her personal impressions here. (July 1998).

What test mean
Dr Pram Mistry and Susie Noe facilitated this important session at the March 1998 Workshop in London. Interest was high. (July 1998).

Carers
Gloria Gordon facilitated the group which discussed how it feels to live with sufferers of Gaucher's disease. Husbands, wives, parents and other relatives attended the Workshop session in March 1998. (July 1998).

Type 1 Children
Two sessions were devoted to children with Type 1 Gaucher's disease and their parents, at the Workshop. Gill Ian mother of a Type 1 boy diagnosed aged 6 years and now 15, facilitated the groups. Dr Ed Wraith paediatric consultant in the charge of the Gaucher's Centre at the Royal Manchester Children's Hospital, participated in the first session. (July 1998).

Type 3 Sessions
The three Type 3 sessions at the March 1998 National Workshop were attended by a small number of families and medical staff. (July 1998).

Simple Guide to Gaucher Disease
An informative, simple but mind-provoking guide to Gaucher disease was given by Dr Paul Schofield, Consultant Physician at Addenbrooke's Gaucher Clinic, as an introduction to the Gaucher's National Workshop in March 1998. Using computer graphics and easy to understand language, Dr Schofield talked his way through what happens inside the bodies of Gaucher's patients. (July 1998).

European Doctors and Scientists Meet in Maastricht
Over one hundred doctors and scientists from 20 European countries spent two days in Maastricht, Holland, at the Second Workshop of the European Working Group on Gaucher Disease (EWGGD) held on 1-3 May 1997. (November 1997).

Aspects of Gaucher Disease for the Future
Professor Timothy Cox is responsible for a large group of Gaucher disease patients at Addenbrooke's Hospital, Cambridge was the first speaker at the Gauchers Association's Third Conference in February 1997.

Italian Gaucher Conference (September 1996).

European Doctors Share Their Knowledge
Report of the European Working Group on Gaucher Disease held at Trieste, Italy, October 1994.

First UK Conference A Great Success
Report of the Gauchers Association Conference with Professor Timothy Cox, Dr Paul Fields, Dr David I. K. Evans and Dr Ian Ellis, London, November 1992

Second UK Conference Report
Includes a report on Dr Pram Mistry and Professor Cox's research into how Ceredase is taken up by the body, London, November 1994.

Medical Reports from NGF Conference
Report of the NGF Conference, Philadelphia, November 1994.

Health Minister Praises Efforts of Association to Support Families
Report of Second Gauchers Association Conference, London, November 1994.


Enzyme Replacement Therapy

The cost of Gaucher Disease
Susan Lewis talked about the cost, both financial and human of the condition. (December 2006).

An Emerging New Enzyme Treatment for Type 1 Gaucher Disease
Prof Ari Zimran, Director of the Gaucher Clinic at Shaare Zedek Medical Center in Israel reports a further update on a new enzyme preparation for patients with Type 1 Gaucher disease, produced by Shire Genetic Therapies. (June 2006).

Potential New ERT Produced in Plant Cells
Protalix Biotherapeutics, an Israeli biotechnology company, has developed a novel plant-cell culture system for the production of active human biopharmaceutical proteins, writes Dr Einat Almon, Vice President Product Development, Protalix Biotherapeutics. (June 2006).

New Enzyme Trial Update
During a recent meeting of the European Study Group of Lysosomal Disorders in Oslo during September 2005, Prof Ari Zimran from the Gaucher Clinic at Shaare Zedek Medical Center presented the six months results from the Phase I/II clinical trial of a new enzyme preparation. (December 2005).

Enzyme Replacement Therapy and Home Infusions
Several speakers presented information about the continuing benefits of enzyme replacement therapy at the EWGGD meeting including reports from Belgium, the USA, Italy, Greece, Germany, Holland and Israel. In addition the practice of patients having their infusions of enzyme replacement therapy at home, was discussed by patients and doctors. (May 2005).

Trial for new Enzyme Replacement Therapy for Gaucher Disease to take place in Israel
A clinical trial started in July 2004 for a new enzyme replacement therapy for Gaucher Disease developed by the pharmaceutical company, Transkaryotic Therapies Inc (TKT).(October 2004).

Royal Free Hospital in Cerezyme Dose Frequency (Once a Month) Study
(October 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).

Extending the Use of Cerezyme for Type 3
Genzyme Therapeutics announced in June 2003 that the European Committee for Proprietary Medicinal Products (CPMP) has issued a positive opinion on expanding the indication for Cerezyme to include Type 3 Gauchers disease. Genzyme hopes to receive formal approval of the label expansion by the European Commission later this year. (October 2003).

Ten Years of Enzyme Replacement Therapy
Genzyme Therapeutics celebrated 10 years of enzyme replacement therapy in the UK at its new offices in Oxford on 20 September 2002. Doctors and patients spoke about the progress of Gauchers disease over the past decade and Henri Termeer, Chief Executive Officer of Genzyme Corporation, gave his reflections.(April 2003).

Management of Enzyme Replacement Therapy: Outcome and Expectations
Dr Neal Weinreb of the University Research Foundation for Lysosomal Storage Diseases in Coral Springs, Florida gave an overview of enzyme replacement therapy and its outcomes based upon data collected and analysed by the Gaucher Registry, at the Gaucher Conference in the US on 11 October 2002.. (April 2003).

Future Developments for Gauchers Disease including Enzyme Replacement Therapy
Prof Timothy Cox who heads the Gauchers Centre at Addenbrooke's Hospital, Cambridge, spoke about the history and future developments of Gauchers disease including the use of enzyme replacement therapy. (March 2002).

Low Dose Treatment in South Africa
Dr Rene Heitner has been treating seven Gaucher sufferers in South Africa (5 children and 2 adults) with Ceredase. (September 2001).

Low Dose - What Does It Mean? (Updated September 2001).

Healthcare at Home User Survey
In July 2000 Healthcare at Home carried out a survey of UK patients with Gaucher disease who receive Cerezyme through their delivery and nursing service. Seventy eight responded stating where they were infused and whether they were satisfied with the delivery and, in some cases, the nursing service. (March 2001).

New Enzyme Treatments for Other Diseases
Patient associations for six different diseases were represented at two days of talks about the development of new enzyme replacement therapies and medical advances during a Congress for the Society for the Study of Inborn Errors of Metabolism held in Cambridge on 16-17 September. (March 2001).

Guidelines for infusing Cerezyme

Enzyme treatment - how does it work?
Dr Pram Mistry talks to the Gauchers Association's Third Conference in February 1997. (June 1997). (Deutsche).

Uptake of Enzyme Replacement Therapy Research into the uptake of enzyme replacement therapy in patients with Type 1 Gaucher Disease, carried out by Dr Pram Mistry, Dr Philip Wraight and Prof Timothy Cox. (February 1997). (Deutsche).

Introduction of Cerezyme Scheduled for 1997
Patients in the UK, now on Ceredase enzyme replacement therapy, will be receiving the new recombinant form of the drug, Cerezyme, by the end of 1997 according to Genzyme's President and Chief Executive Officer.

Introduction of Cerezyme
Cerezyme is the recombinant, synthetic version of Ceredase, the enzyme replacement therapy for Gaucher disease produced by Genzyme Therapeutics. Martin Cortvriend Genzyme's UK General Manager, spoke about the new drug at the February 1997 Conference.

Ceredase Infusions: Timing and Dilutions
Professor Timothy Cox explains why this varies from patient to patient. (September 1993).

Cerezyme and Ceredase Compared
Report of talk by Professor Gregory Grabowski at NGF Conference, Philadelphia, November 1994.

Different Aspects of Enzyme Replacement Therapy
Dr Ari Zimran talks to the Gauchers Association, London, September 1995.

Enzyme Grown in Tobacco Plants
A possible new production source for replacement therapy. (March 1996).

Experts Assess Guidelines for Treating Gaucher Disease
A Personal View of the Assessment Conference
Two reports of the Technology Assessment Conference held under the auspices of the National Institutes of Health, Washington, DC, February 1995.

Genzyme's New Production Plant
An on the spot report of progress in the production of Cerezyme. (September 1996).

Genzyme Medical Director Answers Questions on Ceredase
Dr Richard Moscicki interviewed in London, April 1993.

Low-dose Enzyme Replacement Therapy and its effect on Bones
A report of new research by Dr Deborah Elstein and others showing low dose therapy is as effective as high dose therapy on bone disease as well as for all other symptoms. (September 1996).

The Supply and Safety of Ceredase and Cerezyme
Report of the talk by Scott Furbish PhD of Genzyme Corporation at the Gauchers Association Conference, London, November 1994.

UK Licence for Ceredase
Details of the UK product licence. (February 1995).

See also Home Infusions


European Gaucher Alliance

European Gaucher Alliance Gathers Strength
The European Gaucher Alliance (EGA) consists of patient organisations from 24 European countries which are dedicated to helping sufferers of Gaucher disease. (October 2003).

The Situation in Romania
Daniela is 13 years old and has Gaucher disease. She was carried into the Romanian Gaucher Patients Meeting held in Cluj-Napoca on 4-5 July. She could not walk because of a severe bone crisis. She also had a high temperature. She had started Cerezyme in October 2002 but the dose was reduced as money to pay for it ran out. When we met, her parents felt there was no hope of future therapy for their only child. (October 2003).

Davide's Story: From Italy to Romania, he travelled to describe his Experience with Gaucher disease
Davide age 22 is Italian and travelled to the Romanian Patient Meeting in July to tell his new friends about his own experience of living with Gaucher disease. (October 2003).

From Russia With Love
This is a letter from Yulya who travelled to Israel from Russia two years ago to receive treatment.

News from Around the World
Two important European national conferences were held in the latter part of 2002. The Spanish Gaucher Association held its meeting in October 2002 and the Danish Association held its Conference in November 2002. The Dutch Gaucher Association will hold its 20th Anniversary International Conference in October 2003. (April 2003).

News from Around Europe
Delegates from patient associations in 15 countries attended the European Gaucher Alliance meeting which followed the European Working Group on Gaucher Disease (EWGGD) scientific meeting in Prague in May 2002. (October 2002).

European Gaucher Alliance Meeting, Jerusalem 2000
Eleven countries were represented by their patient associations at the European Gaucher Alliance (EGA) meeting which took place in Jerusalem on 5-6 September 2000. (March 2001).

European Gaucher Alliance Meets in Greece
Representatives from 10 European patient organisations met in Lemnos in Greece at the end of May 1999. (July 1999).

European Gaucher Alliance
Statement of aims of the members. (Updated 23 January 2003).


Gene Therapy

Gene Therapy: Update
By Dr John Barranger at the US Gaucher Conference in Arlington Virginia on 1-3 October 1999. (February 2000).

Promising First Results for Gene Therapy
The results of the first phase of a gene therapy trial on three adults with Gaucher's disease were revealed by Professor John Barranger at a meeting on Sunday 19 April 1998 at the NYU Medical Center in New York City. (July 1998).

More News on Gene Therapy
Professor Barranger starts his trials. (March 1996).

Gene Therapy for Gaucher Disease
Talk by Professor John Barranger to Gauchers Association conference, November 1994.

Gene Therapy in the UK
Report of talks at the Research Trust For Metabolic Diseases in Children conference, September 1994.

Other US News of Gene Therapy
Reports from the NGF Conference in Philadelphia, November 1994.


Home Infusions

Enzyme Replacement Therapy and Home Infusions
Several speakers presented information about the continuing benefits of enzyme replacement therapy at the EWGGD meeting including reports from Belgium, the USA, Italy, Greece, Germany, Holland and Israel. In addition the practice of patients having their infusions of enzyme replacement therapy at home, was discussed by patients and doctors. (May 2005).

Infusion Tips: Storage of Cerezyme
(February 2000).

Guidelines on Home Infusions for Cerezyme
What you need to know if you want to infuse yourself at home. ( November 1998).

Infusion Tips
The group discussion on Home Infusions was the most popular event of the Workshop. Sandy Maclachlan facilitated with the help of specialist nurses from three Gaucher's Centres in the room. (July 1998).

Holidays and infusions (July 1998).

Home Infusions
Patients' experiences of home infusions. (November 1993).


Insurance

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).

Don Tendell Appointments
Don Tendell will sit on the Committee of the UK Forum of Genetics and Insurance and the Human Genetics Commission Consultative Panel (March 2002).

Travel Insurance
If you suffer from Gaucher's disease and want to holiday abroad, you need to put more effort than average into your choice of travel insurance. (July 1999).


New Treatments

New treatments
Four pharmaceutical companies Genzyme, Amicus, Shire and Protalix explain their new treatments which are in the course of development for Gaucher Disease. (December 2006).

How flexible are the red cells from patients with Gaucher Disease
Dr Atul Mehta writes about a joint research project by St George's Hospital and the Royal Free Hospitals in London. (December 2006).

A Maintenance Trial in Adults with Gaucher Disease
Actelion Pharmaceuticals has announced a new trial to assess the safety and effi cacy of miglustat (Zavesca) as a maintenance treatment. The plan is to enrol 50 patients with Gaucher disease in a multi-centre international study which has been approved by the regulatory authorities, writes Prof Tim Cox of the University of Cambridge and Addenbrooke's Hospital.(June 2006).

Amicus Therapeutics Explores a New Way to Treat Gauchers Disease
A potential new method for treating Gauchers disease produced by Amicus Therapeutic was described in the last edition of Gauchers News. This is a further update.(June 2006).

Future Developments for Gauchers Disease
Amicus Therapeutics, a biopharmaceutical company based in New Jersey USA, is developing a series of drugs called small molecule pharmacological chaperones to treat human genetic diseases and is planning to initiate clinical studies of a small molecule chaperone called AT2101 for Gaucher disease in the first six months of 2006. (December 2005).

New Enzyme Trial
During a recent meeting of the European Study Group of Lysosomal Disorders in Oslo during September 2005, Prof Ari Zimran from the Gaucher Clinic at Shaare Zedek Medical Center presented the six months results from the Phase I/II clinical trial of a new enzyme preparation. (December 2005).

Genzyme tries to stop trial of new competitive therapy
A clinical trial to assess the safety of a new enzyme replacement therapy for Gaucher disease produced by Transkaryotic Therapies Inc commenced in Israel in April 2004. In January 2005, Genzyme filed legal proceedings to stop the trial. (May 2005).

Zavesca (miglustat) Results
Zavesca was discussed by five speakers at the European Working Group on Gaucher Disease meeting in Barcelona on 14-16 October 2004. Zavesca was licensed in November 2002 for the use of patients with mild to moderate Type 1 Gaucher disease for whom enzyme replacement therapy is unsuitable. (May 2005).

A new orally administered replacement therapy to restore enzyme activity
Dr Edward Ginns, Director of Research in Pediatric Neurology at the University of Massachusetts Medical School in the USA is working on a technique to be taken by mouth that can deliver DNA directly to the macrophage cells of patients with Gaucher disease and other lysosomal storage disorders. (May 2005).

Trial for new Enzyme Replacement Therapy for Gaucher Disease to take place in Israel
A clinical trial started in July 2004 for a new enzyme replacement therapy for Gaucher Disease developed by the pharmaceutical company, Transkaryotic Therapies Inc (TKT).(October 2004).

Substrate Reduction Therapy Study for Patients with Neuronopathic Gauchers Disease
Elin Davies-Pope, Clinical Research Nurse at Great Ormond Street Hospital for Children in London, gives an update on the substrate reduction therapy study for patients with neuronopathic Gauchers disease using Zavesca. (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).

Zavesca Trial for Type 3 Gauchers Disease Starts in the UK
This July saw the start of a screening process of children with Type 3 Gauchers disease at Great Ormond Street Hospital, London, England to decide if they were suitable to enter the Zavesca (OGT 918) trial. (October 2003).

US Approval of Zavesca
The US Food and Drug Administration has approved Zavesca for the treatment of adult patients with mild to moderate Type 1 Gauchers disease for whom enzyme replacement therapy is not a therapeutic option. (October 2003).

Zavesca receives EU Marketing Authorisation
Zavesca, a capsule taken by mouth three times a day, received European Commission approval on 26 November 2002 for the treatment of patients with mild to moderate type 1 Gauchers disease for whom enzyme replacement therapy is unsuitable. Patients taking the drug should be managed by physicians knowledgeable about Gauchers disease.(April 2003).

New Drug Gets Positive Opinion for Approval in EU
Zavesca (formerly known as Vevesca or OGT 918) has received a positive opinion recommending approval in the European Union for use in patients with mild to moderate Type 1 Gauchers disease with the proviso that it is used by patients for whom enzyme replacement therapy is unsuitable and that follow-up safety data is obtained on all patients. (October 2002).

Future Developments for Gauchers Disease including Enzyme Replacement Therapy
Prof Timothy Cox who heads the Gauchers Centre at Addenbrooke's Hospital, Cambridge, spoke about the history and future developments of Gauchers disease including the use of enzyme replacement therapy. (March 2002).

Progress of OGT 918 Substrate Balance Therapy
Prof Ari Zimran has observed 500 patients at the Gauchers Clinic in Jerusalem, Israel and spoke at the 5th Conference in November 2002 about the changing pattern in the symptoms of Gauchers disease and the new substrate balance therapy (OGT 918) which is currently on trial.(March 2002).

Vevesca (OGT 918): US Study To Start at NYU Gaucher Clinic
The first clinical study in the USA with Vevesca for Type 1 Gaucher disease is to begin shortly at the New York University School of Medicine. (September 2001).

OGT 918 Re-Named Vevesca
OGT 918, which is currently on trial for treatment of Gaucher disease, was discussed at the European Working Group for Gaucher Disease meeting in Jerusalem on 6-9 September 2000 and at the National Gaucher Foundation Conference in Arlington, Virginia on 12-13 November 2000. (March 2001).

Ozone Therapy
Prof Ari Zimran spoke about the research he has carried out into ozone therapy to aid pain control in people with Gaucher disease. (March 2001).

New Enzyme Treatments for Other Diseases
Patient associations for six different diseases were represented at two days of talks about the development of new enzyme replacement therapies and medical advances during a Congress for the Society for the Study of Inborn Errors of Metabolism held in Cambridge on 16-17 September. (March 2001).

First Clinical Trial Results for OGT 918 for Gaucher Disease
The results of a multinational clinical trial of a new drug OGT 918 (also known as substrate balance therapy) which could possibly be used instead of or together with enzyme replacement therapy were published in the medical journal, The Lancet on 29 April 2000. (August 2000).

Substrate Balance Therapy
Irene Gow, Clinical Operations Manager of Oxford GlycoSciences (OGS), gave a talk on substrate balance (deprivation) therapy, a potential new way to treat Gaucher disease, at the Neuronopathic Gaucher Disease Family Conference on 6-7 November in Northampton, UK. OGS currently has a drug called OGT 918 in clinical trials involving patients with Type 1 Gaucher disease. (February 2000).

Two Researchers Win Alan Gordon Memorial Award
Dr Frances Platt and Dr Terence Butters were presented with the second Alan Gordon Memorial Award on 25 April for their work on the use of substrate deprivation therapy. (July 1999).

A New Drug on Trial for Gaucher Disease
In March 1998 a clinical trial started with a drug named OGT 918. The trial involves centres in the UK, Europe and Israel and will examine the effects of the drug on a number of Gaucher patients over a 12 month dosing period . (January 1999)

Trial of Drug to Improve Bone Symptoms in Gaucher Patients
A new study to investigate whether a bisphosphonate drug called Fosamax (alendronate), which has been used for the improvement of osteoporosis, can help Gaucher patients with bone disease, is to take place in the United States. (February 1997).

New Treatment being studied for Gaucher Sufferers
Report of research at Oxford University by Dr Frances Platt and Dr Terry Butters. (March 1996).

Enzyme Grown in Tobacco Plants
A possible new production source for replacement therapy. (March 1996).

PEG Glucocerebrosidase (November 1994).

See also Gene Therapy


Pain Management

Pain Management and Ozone Treatment
Prof Ari Zimran spoke about pain management and ozone treatment at the 5th Conference. He said that the next generation of people with Gauchers disease will hopefully not have to suffer pain from the disease. (March 2002).

Ozone Therapy
Prof Ari Zimran spoke about the research he has carried out into ozone therapy to aid pain control in people with Gaucher disease. (March 2001).

Pain Management Programmes
Pain management programmes make use of several disciplines including physiotherapy, occupational therapy and clinical psychology, explains a clinical psychologist specialising in Health and Pain Management. (July 1999).


Patient's Stories

Julie's story: "You can't feel sorry for yourself"
Julie walked down the aisle aged 24 as a beautiful bride with the aid of a stick covered in flowers. She was diagnosed with Gaucher disease when she was five. (December 2005).

Bone Marrow Transplant Corrected Gaucher's Disease 19 years ago
Matthew was eight years old when he had a bone marrow transplant to correct his Gaucher Disease at the Westminster Children's Hospital in 1985. Although now considered an inappropriate method to treat Gaucher Disease, Matthew is 27 years old, healthy and has produced a daughter of his own. (October 2004).

Suzanne's Story: Did They Really Listen?
Suzanne has Gaucher Disease and despite having had two hip replacements and six revisions, she has worked as a registered physiotherapist for 25 years, presently at Princeton Neck and Back Institute, New Jersey, U.S.A. (October 2004).

Good News from Venezuela: Victoria's Story - From Gaucher Disease to Computer Science Engineering
Victoria was born and raised in Venezuela. As a proud father, he has asked for her story to be published here. (October 2004).

The Situation in Romania
Daniela is 13 years old and has Gaucher disease. She was carried into the Romanian Gaucher Patients Meeting held in Cluj-Napoca on 4-5 July. She could not walk because of a severe bone crisis. She also had a high temperature. She had started Cerezyme in October 2002 but the dose was reduced as money to pay for it ran out. When we met, her parents felt there was no hope of future therapy for their only child. (October 2003).

Davide's Story: From Italy to Romania, he travelled to describe his Experience with Gaucher disease
Davide age 22 is Italian and travelled to the Romanian Patient Meeting in July to tell his new friends about his own experience of living with Gaucher disease. (October 2003).

From Russia With Love
This is a letter from Yulya who travelled to Israel from Russia two years ago to receive treatment.

Cliff Smith: Private Pain Brings Public Benefit
Cliff Smith had Gauchers disease but died from a secondary condition on 30 December 2002. His eldest daughter Kate, her sister and brothers attend the British School in the Netherlands and asked the Headmaster if each pupil could dispense with their uniform for one day if they paid one Euro. Over €2,500 was raised at the British School in the Netherlands and a total of £4,255 (€6,220) has been raised in Cliff's memory.(April 2003).

Ria's Story: 'My Brother was Diagnosed aged Three Years Old. It Turned Out My Sister and I Had It Too.'
Ria Guijt was born in Holland in 1956 and nine years later was diagnosed with Gaucher disease. (October 2002).

HOW THINGS WERE: Melanie's Story A Splenectomy Three Months After My Son's Birth
Melanie, now aged 44, told her story of pain and hope over the past 30 years at the Association's Conference on 11 November 2001. Her brave story should be compared with how she would have been diagnosed and treated if she had been born 25 years later, as in Emily's case which is described in the next story. (March 2002).

HOW THINGS ARE: Emily's Story
Growing up with Gauchers Disease

Emily was diagnosed when she was 13 years old but fortunately started Cerezyme soon after. She is now a beautiful young woman aged 18. Her story is an example of how enzyme replacement therapy has enabled her to fulfil her potential and contrasts with Melanie's story on the previous page. She also told her story at the Conference. (March 2002).

Dawn's Story: 'Although Gaucher disease is part of me, I will not let it rule who I am'
Dawn was 10 years old when she was diagnosed with having Gaucher disease. After nearly 10 years of enzyme replace-ment therapy, she is planning to become a solicitor and is in her final year at university studying law. (September 2001).

Wojtek's story: I am now similar to my friends
Wojtek Oswiencinski has Gaucher disease, is 22 years old, a student and lives in Poland. His father, Pawel, is Chairman of the Polish Gauchers Association and Wojtek represents Poland at the European Gaucher Alliance. (March 2001).

Susan's Story: "I Felt I Was A Very Old Person - Yet I Wasn't Even Thirty Years Old"
Susan was diagnosed with Gaucher disease 16 years ago during her third pregnancy although as a child she suffered with a lot of pain in her legs. But it was only in October 1998 that she discovered there was a reason for all her symptoms and that a treatment was available to help her. (February 2000).

Jean's Story: I Wore a Calipher for Three Years(July 1998).

Anne's Story: 'I have been lucky'
Just one month before she was elected Member of Parliament for Aberdeen South, Anne Begg gave an inspiring talk to the February 1997 Conference about having Gaucher disease. (Italiano).

Caring Shared
How close relatives of patients feel. (July 1994).

Dorothy's Story: Bone Marrow Test with a Hair Dryer (November 1993).

Poems

Sandy's Story: My Spleen was Now Enormous (September 1995).

See also Children and Gaucher Disease

See also Home Infusions


Pregnancy and Childbirth

Julie's story: "You can't feel sorry for yourself"
Julie walked down the aisle aged 24 as a beautiful bride with the aid of a stick covered in flowers. She was diagnosed with Gaucher disease when she was five. (December 2005).

Pregnancy in Gaucher Disease
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 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).

Outcome in Pregnancy
A study to evaluate how women with Gauchers disease fared with pregnancy and child birth, both on and off enzyme replacement therapy, has been made by Dr Debby Elstein, Research Director at the Shaare Zedek Medical Centre in Israel together with colleagues. (October 2002).

Obstetric and Gynaecological Aspects in Women
Dr Ari Zimran talks to Associazione Italiana Gaucher near Naples in April 1996.


Screening, mutational analysis and genetic counselling

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).

PhD Thesis on Gaucher Research Completed
Mary Teresa Moran presented a 310 page bound volume of her PhD thesis to Jeremy Manuel, Chairman of the Gauchers Association on 18 April 2000. (August 2000).

Genetic Screening and Counselling
The Gauchers Association's policy on genetic screening. (Revised February 1999).

Incidence of Gaucher Disease in the UK(Revised February 1999).

Diagnosis and Monitoring of Gaucher Disease at Great Ormond Street Hospital.
A report on carrier detection, mutational analysis and marker response using chitotriosidase by Professor Bryan Winchester, Elisabeth Young and Cathy Meaney of the Chemical Pathology Service of Great Ormond Street Hospital, London. (September 1996).

Accurate Mutation Analysis in 54 British and Irish Gaucher Patients
The Willink Unit at the Royal Manchester Children's Hospital has provided a diagnostic service for Gaucher's disease and other lysosomal storage disorders since 1974. Over this period 90 patients with Gaucher's disease have been identified. Dr Alan Cooper describes some of his recent work following his talk at the EWGGD in Maastricht on 3 May 1997. (November 1997).

Gaucher Disease in the UK: Screening Non-Jewish Patients for the Two Common Mutations
Report of research at Oxford University by Dr Andrew Walley.


The Spleen

Splenectomy and the Risk of Infection
Addenbrooke's Hospital has recently published an updated directive on the increased risk of infection to people without a spleen, writes Sandy Maclachlan. Our panel of doctors from the four Gaucher's Centres have added their advice. Here is a reminder of the procedures to reduce the risk for those who have had their spleen removed. Seek the advice of your doctor for further information. (July 1999).

The Spleen: A Site of Emotions
Professor Timothy Cox explains what the spleen does, how it is effected by Gaucher Disease and what precautions against infection patients who have had their spleens removed might consider. (February 1994).


Tests for Gaucher Disease

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).

Monitoring and Testing Gauchers Disease
Dr Atul Mehta runs the Gauchers Centre at the Royal Free Hospital in London together with Specialist Nurse Linda Richfield. Dr Mehta explained the need for the regular monitoring and testing of patients. (March 2002).

What test mean
Dr Pram Mistry and Susie Noe facilitated this important session at the March 1998 Workshop in London. Interest was high. (July 1998).

Intrusive Tests - A Personal View (March 1996).

Intrusive Tests - A Doctor Replies (September 1996).

New Test for Disease Severity and Efficacy of Treatment
Dr Hans Aerts of the Department of Biochemistry, Academic Medical Center, University of Amsterdam. (March 1996).

New Scintigraphic Test to Evaluate Gaucher Deposits in Bone
Dr Giuliano Mariano talks to Associazione Italiana Gaucher near Naples in April 1996.


Old Articles

Here are articles which are now out of date or are no longer of current interest or where more up to date articles on the same topic are now published or where the topic is of lesser interest to most readers:

US Professor Talks about his Work
Report of a talk by Professor Gregory Grabowski in Manchester, February 1993.

Research at Cambridge - A Personal Account by Mary-Teresa Moran
As part of her PhD over three years, she is investigating why some cells in a Gaucher's sufferer are different from someone's who does not have the disease. (November 1997).

News from the Gaucher Centres (July 1998).

Israel Profile
Description of the treatment of Gaucher Disease in Israel. (September 1995).

Disability Living Allowance
Recently three out of four claims for Gaucher patients have succeeded. (February 2000).

US Awards Dr Pram Mistry
(August 2000).

Farewell to Dr Pram Mistry
In May 1998, the Gauchers Association gave a farewell reception for Dr Pram Mistry who left the Gaucher's Clinic at the Royal Free Hospital to become Associate Professor and Director of the Gaucher's Clinic at the Mount Sinai Medical Centre in New York on 1 June 1998. (July 1998).


Endpiece

Making a Difference


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.

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