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Fabry disease: Dr. Arvind’s story

  • Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, which narrows your blood vessels and causes long-term issues with the skin, kidneys, heart, brain, and nervous system. Patients become intolerant to heat and cold.
  • In this video, a case of a 28-year-old patient is discussed whose symptoms like intolerance towards heat and cold, joint-pain began at class 8. A general body check-up revealed excess protein in the urine, for which the physician prescribed some medication. The treatment eventually relapsed as it was ineffective. A few years later when the patient’s family member was diagnosed with chronic kidney disease, the whole family undergo tests like kidney tests and genetic testing. These examinations revealed that the family is suffering from a rare genetic disorder disease. 

  • After being diagnosed, the patient made an effort to live a healthy lifestyle, but the symptoms persisted. Therapy had an immediate effect on the condition, improving overall health. Over time, the patient's symptoms gradually subsided and he felt better. The patient wishes the diagnosis had been made sooner because the disability could’ve been managed at a younger stage. He was able to rebuild his confidence and lead a nearly normal life. The patient concurs that prompt diagnosis and treatment can greatly enhance the quality of life.