Fabry Disease, also known as Anderson-Fabry Disease, is closely related to mucopolysaccharidoses and is one of a number of disorders known as lysosomal storage diseases.
Children and adults with Fabry are missing, or are deficient in an enzyme called alpha-galactosidase A which is essential in breaking down certain waste products in the lysosomes of many different types of cell.
The main waste product is ceramide rihexosidase (CTH), also known as globotriaosylceramide, Gb3 or Gl3.
When these waste products are not completely broken down they build up within the cells of the body causing progressive damage. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.
Fabry encompasses a wide spectrum of clinical symptoms which may or may not appear in all individuals with this disease. This, together with the rarity of the disease, often delays diagnosis.
Many individuals may experience some of the symptoms that are outlined here before receiving an actual diagnosis of Fabry.
MPS Commercial have produced a series of publications on behalf of the Fabry International Network which present the findings from research carried out in the Fabry community. You can download the first issue releases in summer 2019.
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Out of hours support line open 5pm-10pm Monday-Friday and weekends:
07712 653 258
For available treatment options and the latest news and information on research, therapies and clinical trials please visit our treatment section.
You might be interested in the Hidden Disabilities Sunflower, it's a discreet way for adults and children with hidden disabilities to show that they need additional support or just a little more time.
My name is Rebecca Brandon and I have been the support worker for Fabry members for the last 10 years. Since joining the society, the Fabry membership has grown and we now have over 450 members.
Because of the way it is inherited, Fabry tends to have a domino affect once one person has been diagnosed. Each person is unique, not everyone has symptoms and some have many.
I wanted to let you know about a few areas of support that we give to the Fabry family membership. We assist with all aspects of life, from talking to employers and schools to education, health, benefits, housing, adaptations and much more. Here I will focus on the main areas that I seem to have more contact about than any other and to try and give some advice but please know that I am always here to help should you need it.