This young lady was diagnosed when she was 3 weeks old, after several blood and urine tests. She is doing well and takes her treatment properly, although her diet is difficult for her.
During the winter months, her meals are often made of low-protein pastas and potatoes. In the summer, she eats a lot of melons, cucumbers, strawberries and of course her low-protein food.
We are married doctors from India – a country of great diversity! Our happiness knew no bounds when we were blessed with a twin girl and boy about three and half years into our marriage.
It was the ‘doctor’s instinct’ in me that caught a minute enlargement of both breasts of my baby girl. We lingered on this for a few days, hoping that it would resolve itself, but then it didn’t. So l thought we would get an ultrasound of the abdomen done. That was the day life changed forever.
Joris was born 10-12-2004 in The Netherlands and has a twin brother. When he was born, Tyrosinemia wasn’t in the heel screening test for babes. In those early days, Joris got sicker and sicker. In the local hospital, they thought we were too over-anxious. But after 3 months, Joris started to purge blood, and was lucky to be hospitalised in the University Medical Hospital in Groningen. After 3 days, the diagnosis was there and the treatment could start. These would be exciting weeks if Joris reacted positively on the treatment. We experienced our world being turned upside down. Living a normal life wasn’t possible anymore.