My Genetic disorder is the Fabry’s Disease.In this paper is will tell you all about this genetic disorder. The full name of this disorder is Angiokeratoma Corporis Diffusum.There are many symptoms that comes with this disorder,but here are a few.
Burning in the hands and feet while sweating or in hot weather,Small raised reddish-purple blemishes on the skin,eye manifestations,decreased sweating,fatigue,heart,kidney hearing and nervous system problems. Doctors can diagnose after birth,in childhood,and adolescents.It is best th get a newborn screening this can be done right after the child is born.Doctors do this by doing blood work, to measure the amount of a. alpha-G.A.H enzyme activity in the blood.If a Child is treated early for fabry’s disease then they can have a healthy growth and development,this is one reason why newborn screening for fabry’s disease is so important and necessary.People or children who do not get treatment early on are at risk of heart attacks,strokes,or kidney disease in the future.People with this disease tend to need neuropathic Pain Agents and ERT(Enzyme
Replacement Therapy),Even with medical treatment the longest life expectancy is only 50 years.There are many medications and treatments but one that many patients us is ERT, this helps reduce cardiovascular and neurologic complication that are associated with Fabry’s Disease
The good thing is that this disorder only affects 1 in 40,000-60,000 males a year.This disorder also affects females however it is extremely rare in