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Gauchers News October 2004
 

In this issue of the Gauchers News read about a succesful bone marrow transplant in a Gauchers patient, a psychologists view on how to tell your child they have Type 3 Gauchers and a new ERT trial in Israel.


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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 because of the high mortality rate caused by imperfect donor matches and the advent of enzyme replacement therapy, Matthew is 27 years old, healthy and has produced a daughter of his own.
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Royal Free Hospital in Cerezyme Dose Frequency (Once a Month) Study
 
 

Up to five patients at the Royal Free Hospital are to take part in a world-wide study of the safety and efficacy of Cerezyme infused every four weeks instead of every two weeks in the maintenance therapy of adults with Type 1 Gauchers disease.
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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.
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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. She has lived with multiple symptoms from Gaucher disease since 1981 and is an avid speaker and writer on the subject. Her first hip replacement took place in June 1983 at the age of 27 years old. The other hip was replaced ten days later. They were subsequently replaced in 1990, 1994, 1997, 2001 and two in 2003. It was after her seventh operation that she asked of her medical carers: 'Are you really listening?' This is Suzanne's story:
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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. Tanya Collin-Histed reports:
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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).
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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.
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© Newsletter by Gauchers Assosiation