Patient Perspective: Fabry Disease

Many Symptoms, One Disease

Donna never expected an eye exam would change her family's outlook on life. After an eye doctor noticed clouding in her 8-year-old daughter's eyes, Donna and her two sons were checked for similar symptoms. All four had corneal opacities. Donna and her children were sent to genetic counseling where doctors confirmed that they had Fabry disease.

Not all Fabry disease diagnoses are as fast as Donna's due to the wide variety of symptoms associated with the disease. Patients with the disease experience problems ranging from stomach cramps and vomiting to body aches and heat intolerance. Another patient, Adrian, had symptoms that baffled doctors for years before he was diagnosed. He eventually visited a rheumatologist who was able to make sense of his symptoms, and get him proper medical treatment for the disease. Today, Fabry disease patients depend upon both enzyme replacement therapy (ERT) and symptom management to manage the disease. While ERT does not cure Fabry disease, it can reduce the symptoms of the disease, giving patients like Donna and Adrian a second chance at a normal life.^22,23

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Endnotes:

22 Genzyme Therapeutics, "Living with Fabry Disease," Fabrazyme®, http://www.fabrazyme.com/patient/disease/fz_us_pt_ds_living.asp (accessed 20 September 2005).

23 Genzyme Therapeutics, "Treatment," Fabrazyme®, http://www.fabrazyme.com/patient/treat/fz_us_pt_tr_overview.asp (accessed 20 September 2005).