Fabry disease is a liveable, rare metabolic illness, which is caused by an insufficient or missing activity of the enzyme "alpha Galaktosidase A". Fabry patients store a fat substance, which is called Globotriaosylceramide or Gb3 due to the decreased or missing activity of the enzyme.
The deposits of this material may lead to extreme pain, serious kidney damages and hart- and brainstroke. The illness concern several systems such as nervous system, kidneys, heart and blood vessels.
The diagnosis is very difficult due to the rarity and the large variety of the symptoms. The patients without enzyme replacement therapy ERT, could have a shorter life expectancy and a significantly decreased life quality.
In Norway we do have about 72 humans diagnosed with the Fabry gene, and at present about 30 patients with the life-saving therapy ERT, with Agalsidase Alfa or Beta.
ERT is given to our patient as a home treatment or at the hospitals in Bergen, Oslo, Bodø and Ålesund, or is supplied at the local doctor or heltcarecentre.
You can read more about the Fabry disease
in English at: http://www.fabryintnetwork.com
or in American at: http://www.fabry.org