This section provides links for further information about Type 2 Gauchers Disease. It is by no means comprehensive, yet the sites that are listed are excellent stepping-stones to other sources of information. If you know of a useful site or source of information not listed elsewhere, please email me and I'll include it here.
Children's Gaucher Research Fund "We are a non-profit organization, that raises funds to coordinate and support research to find a cure for Type 2 and Type 3 Gaucher Disease." The only organisation that I am aware of that raises funds specifically for these types of diseases. The Fund releases newsletters every three months, and has a Scientific Advisory Board made up of researchers with an interest in either Gauchers specifically, or lysosomal storage disorders in general. The founders are also parents of a Type 3 child who died from complications arising from a bone marrow transplant. Detailed information about Type 2 and Type 3 Gauchers Disease can be obtained from here. There are also stories of other Gaucher children, mainly from the United States.
Type 2 Gaucher Disease (UK Gauchers Association) An excellent website that provides background for Type 2 Gauchers, as well as covering a lot of other Gauchers related topics, including current news and research information. It also provides contact details for Gaucher Associations all over the world (including Australia and New Zealand). The link for the general Gauchers homepage is at the top of the page.
International Collaborative Gaucher Group: Gaucher Registry Genetic counselling is a necessity for parents who are both Gaucher carriers if they wish to proceed with having children in the future. In Australia, samples of DNA are sent to the Women & Childrens Hospital in Adelaide for genetic testing, however they only test for the most common genotypes. In our case, they could locate the defective gene in the mother, but they could not locate it in the father. This site is included here, because our geneticist wasn't aware of it's existence. Please note that it may take some time to get results back from this organisation if you live outside the United States. To quote from their website:
"At no cost to you, your patient, or third party payers, we will evaluate the b -glucocerebrosidase gene for mutations. This service is offered for patients who have been previously diagnosed with Gaucher disease, are enrolled in the Gaucher Registry, and:
who have not been genotyped; or
who have been genotyped but still have one or both alleles unknown."
The Association of Genetic Support of Australasia (AGSA) AGSA is a group that offers resources and support to sufferers of genetic disorders in general and their families. Gauchers disease and a story about Brannon was recently profiled in their April 2004 newsletter. To quote from their website:
"The diagnosis of a genetic condition in a family member, particularly a child, places enormous stress on a family. Families may feel the need for personal support offering a specialised understanding of their particular condition. Whilst there are support groups established for a number of genetic disorders within the Australasian region, AGSA may provide the only contact point for families affected by rare conditions. AGSA will endeavour to facilitate contact with another family/individual affected by the same, or similar conditions, and/or provide information about an overseas support group. AGSA also provides: A Peer Support and Information Officer who deals with enquiries and facilitates ongoing support for individuals, families, health professionals and other interested groups.
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