Because of the progressive, destructive and potentially life-threatening nature of Fabry disease, early identification, evaluation and diagnosis are critical to the health and well-being of individuals with this disease. 

 

The symptoms of this disease are varied but quite well defined and seem quite clear to a physicians, genetic counselors, nurses, other healthcare providers, and individuals with Fabry disease who are involved with the disease on a routine basis.  However, to the healthcare providers and other individuals without more intimate knowledge of this rare disease, recognizing Fabry disease is like looking for a needle in a haystack.  Connecting all of the dots (symptoms) and recognizing the disease to enable evaluation and diagnosis is often difficult.

 

Once an individual is suspected to have Fabry disease, evaluation and testing must occur to confirm whether the Fabry gene is present.  If the Fabry gene is present, a determination must be made as to the appropriate course of action for evaluation, monitoring, management, and treatment.  Individuals aware they carry the Fabry gene versus the individuals suffering from a diminished quality of life for an unknown reason are significantly better able to cope with their disease.  There are still thousands of people suffering and dying from Fabry disease at an early age who are unaware of the reasons why.