Look into my eyes and ask, "could it be Fabry?"

This Fabry Awareness month we are featuring a series of articles titled “Could it be Fabry?” from guest blogger Loretta MacInnes, a Fabry patient who wasn’t diagnosed until she was 50 despite having symptoms since childhood.


Information contained in these articles has been collected and written by our guest blogger and does not necessarily reflect the opinions of the MPS Society or its Board of Trustees.


What is Fabry?


Fabry Disease is classed as a rare disease, with currently about 1:40,000 people diagnosed with the condition. I believe that it is under-reported and that the rate of Fabry across the population is higher. People diagnosed with Fabry are fortunate in that there are treatments available to slow down the progression of this disease. It is important to start these as soon as possible before the disease progresses and organs become damaged.


It is crucial that diagnosis occurs as early in life as possible so that if the person is eligible for treatment, then the treatment can begin. The problem is that unless you have a family member who has been previously diagnosed with Fabry Disease and is tested to check if you have the illness, it can be very difficult to spot and can take years to receive the correct diagnosis and treatment.


It is crucial that diagnosis occurs as early in life as possible so that if the person is eligible for treatment, then the treatment can begin.

There are distinct indications that someone may have Fabry Disease. With a number of these indicators being found in the eyes, optometrists and other eye professionals are i