Has anyone in your family or a family you know suffered at an early age from kidney disease, kidney dialysis, kidney transplant, heart arrhythmias, left ventricular hypertrophy, heart attacks, transient ischemic attacks (TIAs) or strokes, or passed away early in life due to kidney failure, heart attacks or strokes.

Do you recognize me or someone like me?

I have family members who have been diagnosed with heart disease, kidney disease, and central nervous system disorders and/or have suffered with or lost their lives to heart attacks, strokes and kidney failure at an early age in life (30-50s).

As a child:

• I complain a lot about burning pain in my hands or feet.
• I either don't participate in strenuous physical activities or don't last as long as others.
• I often just don't feel well or have a general body ache.
• I often don't want to go to school or participate in gym class.
• I overheat easily because I don't perspire much, if at all.
• I have unexplained high fevers sometimes resulting in clinic or hospital visits.
• I have small reddish-purple spots on my trunk especially in the bathing suit region and umbilicus, and sporadically on other parts of my body, lips and in my mouth.
• I sometimes have mild to severe stomach cramps and diarrhea.
• I sometimes have low self esteem and lack confidence because I can't do the things the other kids can do.

As a young adult:

• Many of the other symptoms continue, and:
• The small reddish-purple spots on my body are more visible and more abundant.
• I am not very tolerant of hot and cold temperatures or of temperature changes.
• The pain episodes are limiting and often debilitating, and I get shooting pains in my extremities.
• I have proteinuria and I sometimes have abnormally high levels of albumin in my system.
• In an optometry exam, I have an opaque streaked or whorled pattern on my corneas.
• My diarrhea is worse (often after eating) and often disrupts my daily life.
• I spend a lot of time in the bathroom because of diarrhea or frequent bowel movements.
• Sometimes I have severe stomach cramps, and nausea and vomiting.
• I often have significant swelling in my lower legs, ankles and feet even without evidence of kidney or heart dysfunction.
• I am developing a progressively worsening chronic cough.
• I have low energy levels, fatigue and sometimes depression about my situation.
• Physicians cannot determine what is causing the various symptoms I exhibit.
• I often am unable to work or work sporadically because of my poor health.

As I age:

• Many of the other symptoms continue, and:
• Other people can hear me breathing more; I progressively wheeze quite a lot.
• I have mild to severe ringing in my ears and I have progressive hearing loss.
• I get tired very easily and often tend to sleep a lot.
• My Cardiac ECG is abnormal indicating I have Left Ventricular Hypertropy.
• I am having cardiac problems such as rapid or erratic heart beat.
• I sometimes have attacks of atrial fibrillation at an early age.
• I have Left Ventricular Hypertrophy but I may not have high blood pressure.
• I've had one or more heart attacks at an early age.
• I have kidney disease at an early age but I often don't have diabetes.
• I am on kidney dialysis.
• I am on a kidney transplant list or have had a kidney transplant.
• I've had a Transient Ischemic Attack (TIA/mini-stroke) at an early age.
• I've had one or more strokes at an early age.
• I am at an increasing risk of premature death and need someone to recognize my condition to allow me the option of getting diagnosed, evaluated and treated before it's too late.

If you know someone like me, who has some or all of these common symptoms, please ask them or their parent to contact the NFDF for information about Fabry disease.