The story of Susan
When my son was born in 1994, he had some mild jaundice and they said it was nothing to worry about and possible was due to my having to have 3 injections a day of Heparin to stop my blood clotting. After a few weeks, the jaundice was gone and he reached all developmental Milestones as per the baby books.
When he was 14, he became really ill with really high fevers, unable to get out of bed for about a week, could barely eat or drink and when he saw the GP was told he had Ross River Fever. However, a few weeks later, he was getting bad pains in the area of his liver, he was exhausted all the time, the whites of his eyes , the skin around his eyes and mouth would go a lovely shade of yellow. We were very concerned so went back to the GP who ran blood tests. His bilirubin was elevated and they didn’t know a cause for it but they decided to send us to the pediatrician. We went through 2 years of various blood tests and Ultrasounds/MRI etc and then he had a visit to a new paeds registrar at out local hospital in Townsville Qld. This doctor looks at all his notes and tests and said I think he has Dubin-Johnson Syndrome. No one had mentioned it previously – and he was having these flare ups at least once or twice a month. So the Doctor got permission to do some Genetic testing and that was sent away overseas. 3 months later we received letters to say he has Dubin-Johnson, which is an autosomal recessive disorder that causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes (ALT, AST) and extremely rare. By then he was 17. They say its asymptomatic, but I wonder if that’s just because its rare and they don’t know a lot about symptoms. I have yet to find anyone else on the internet who has it and I have been searching for 4 years. He does get very debilitating symptoms: Aching all over, skin on his face mainly and his whites of his eyes go yellow, unable to eat or drink much and just needs to sleep pretty much for a couple of days. This happens at least once or twice a fortnight. He is now 21 years old. He needs to keep away from Stress, Colds and flus or infections set off his symptoms, eating greasy food can cause flare ups and Alcohol. It’s not a life threatening condition, but it is certainly very debilitating for him. If anyone else has this, I would love to hear from you.