The story of Rudaba
From my birth till my first birthday, i was given a number of different diagnosis but none was right . Was given steroids for a suspected diagnosis of adrenal hormones deficiency leading to liver failure and malignant hypertension . They did all the posible invasive tests on me including bone marrow biopsy and liver biopsy but none lead them to a definitive diagnosis . Thas was when my sample was sent to Centogene for genetic testing for suspected metabolic disorder. That was when i was diagnosed to carry genes of Hereditary tyrosinemia type 1. The diagnosis came with another depressor of non- availability of medicine and special diet in my country. My mother struggled and talked to every authority within the country and out of country. With the grace of Allah, Tyrosinemia society and Dr Beth Barnby became my life saviours and with the generous and kind support of Cycle pharmaceuticals i am now receiving Nitisinone in my country and leading a healthy life . Alhamdulillah