Three and half years old girl, brought by parents with a long history of suffering, started when she was only 6 months old, with recurrent attacks of fever, and “colic’s”, that became more frequent over time, and became more defined with fever, very severe abdominal pain and knees pain, and it is now happening every week. The parents were heartbroken every time she gets an attack, and they were helpless to ease her pain. Had many investigations without diagnosis and tried on several medicines without help. They were very distressed with this mysterious disease that caused so much suffering for such a little girl.
We suspected a relatively rare disease called FMF (Familial Mediterranean Fever), and we sent for tests and started empiric treatment with colchicine low dose, but without improvement since she got another very severe attack a week later, so we increased to moderate dose though the parents were afraid of side effects and initially objected, but we explained that it is a relatively safe medicine and we will monitor closely, so they agreed.
One week later the father calls ecstatic, she got the attack again but it was very mild, the mildest attack she ever got, and the girl did not suffer except mild fever and mild knees pain and no abdominal pain; for the first time in 3 years they see hope, then lab results came back confirming the disease and showing that she carries a rare genetic profile for FMF (may be because the father is Arab and the mother is Eastern European) and this profile causes more severe disease than usual; case solved and suffering stopped.
It is always very gratifying when we ease the pain and suffering of our patients, but it is especially more so when we ease the pain of children who suffered so much for so long.