Bone
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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).
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).
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)
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).
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).
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).
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).
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).
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).
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).
Old Articles
Here are articles which are now out
of date or no longer of current interest.
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).
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).
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).
Treat Patients as Individuals
Talk by Dr
Jack Goldblatt, Genetic Services Director of Western Australia, given in London
in April 1996.
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).
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).
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
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.
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).
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: 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.
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 - 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
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 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).
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).
Sandy's Story: My Spleen was Now Enormous (September 1995).
See also Children and Gaucher Disease
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.
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.
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).
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.
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).
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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