Fabry's Disease

The parents of the one-month old baby who just had his First Lunar birthday party, found out today that he has Fabry's Disease. The diagnoses was made after a routine infant blood test. "Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. It is a genetic disease passed on by the x chromasone." The prognosese isn't good. "A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. "

"Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea. Lipid storage may lead to impaired arterial circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively involved. Other symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating."

It sounds miserable.

"Patients with Fabry disease often survive into adulthood but are at increase risk of strokes, heart attack and heart disease, and renal failure."

He will be going to National Taiwan Univerisity Hospital for treatment next week. It is the only hospital in Taiwan that can provide treatment for the disease.