How many people have Anderson-Fabry disease and if so do you receive treatment and has it helped?

Question

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Answer 1

Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriasylceramide throughout diverse cells, tissues and organs of the body. The disease usually presents in childhood, is progressive, and results in increasing disability and premature death. Female carriers tend to be less severely affected. AFD is difficult to diagnose because of its heterogeneous signs and symptoms. Awareness is low among health professionals, and diagnosis is typically delayed for several years after first presentation. Treatment was formerly entirely symptomatic, but enzyme replacement therapy has recently been licensed and management is evolving from genetic counselling and palliative care to early diagnosis and active intervention.

Answer 2

Never heard of ...here are some links to rare disorders...

Rare Disorders Links

Genetic Disorders
http://www.sbhsd.k12.ca.us/sbhslib/science/gendisorder.htm (link list and scroll down for specific disease links)
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gnd.TOC&depth=2 (genes and disease)
http://learn.genetics.utah.edu/units/disorders/whataregd/ (genetic disorders library)
http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html (medline plus)
http://www.noah-health.org/en/genetic/ (new york online access to health)
http://www.ygyh.org/ (your genes, your health)

NORD (National Organization for Rare Disorders)-
http://www.rarediseases.org/search/rdblist.html

European Organization for Rare Diseases
http://www.eurordis.org/secteur.php3?id_rubrique=1

Medical Website links for the General Public
http://www.eurordis.org/article.php3?id_article=648&var_recherche=peter%27s+anomaly

National Institutes of Health (Office of Rare Disorders)-
http://rarediseases.info.nih.gov/
Genetic and Rare Disorders Information Center (NIH)
http://rarediseases.info.nih.gov/html/resources/info_cntr.html

Canadian Organization for Rare Disorders
http://www.raredisorders.ca/