Yesterday I spoke with the residents about a new patient. He is a four month-old who presented with signs of severe liver failure. After a few tests we discovered the diagnosis is tyrosinemia.
The child is unable metabolize a particular amino acid and has significant damage from the build-up of toxic substances. I had never seen this disease before but was familiar with its devastating consequences. Without proper treatment, the child will continue to deteriorate and eventually die.
It is always very difficult to inform a family that there is nothing medically to do. I try to empower the family to keep him comfortable and love him to the fullest until he dies.