Dear Parent,

The examination of your daughter/son in my office revealed symptoms that are most frequently associated with an inherited disease called Fabry Disease. This disease is progressive and may result in kidney failure, heart disease and/or stroke later in life. At earlier stages, the other most common symptoms noticed are episodes of pain in the hands and feet, heat and cold intolerance and an inability to perspire. Your ophthalmologist may have noticed cloudiness in your child’s cornea and lens that does not affect vision.

If your child has several of these symptoms, or you have a family history of Fabry Disease, I would like to recommend that you contact the Fabry Program at Albany Medical Center at 1-800-456-9900 or at their website fabrydisease.com. At your request, you will be provided with a testing kit that you may take to your doctor’s office. Your doctor will draw a blood sample, and use the kit for testing the level of the enzyme alpha-galactosidase in your child’s blood. This enzyme is absent or present at low levels in patients with Fabry disease, and therefore is diagnostic for Fabry disease.

Early diagnosis for Fabry disease is important now, since a treatment has become available that will stop the progression of the course of the disease and relieve the early symptoms. This treatment replaces the missing enzyme, which in turn will degrade deposits of a fatty substance in your blood vessels. These deposits are the cause of most of the symptoms of Fabry disease. Enzyme replacement therapy will help to relieve or prevent most symptoms. The treatment was FDA approved in April 2003. For more information contact Albany Medical Center.

I strongly recommend that you request your test kit and take advantage of the opportunity for early diagnosis and treatment.

Yours sincerely,