Lessons from an Unexpected Life

From Harvard Magazine:

Khaled Khaled became my patient 41 years ago, when he was a tiny misshapen six-year-old with paper-thin, distorted bones. He was close to heart failure and so anemic when I met him that his blood was watery. I thought he might die in front of me. He has thalassemia, a severe anemia arising from the inheritance of two defective hemoglobin-production genes, one from each parent, both of whom are healthy (albeit mildly anemic) because they each carry only one such defective gene. There are many thousands of patients like Khaled throughout the old malarious world, but only a handful in the United States. The many ancient gene mutations that shut down hemoglobin production in red blood cells have been preserved and enhanced in humans because infant carriers of the mutations are partially protected from a particularly lethal type of malaria. Therefore the thalassemia genes have persisted by Darwinian natural selection of carriers; an unfortunate circumstance in which a disease gene persists because it provides partial protection from a lethal infection. The result is the proliferation of carriers and the birth of thousands of babies with two defective genes who become profoundly anemic and require lifelong transfusion of red cells. The patients–the “lucky” ones–are huge consumers of medical care; most often, the carrier parents face the loss of their child at an early age.

During the past four decades I have been forced to give Khaled red-blood-cell transfusions every three to four weeks. Such treatment, though an absolute requirement of his care, is fraught with devastating complications. Consequently he has had to endure and surmount one massive medical assault after another. But he has survived, and today he is a successful entrepreneur. Nonetheless, he has been battered by all the major consequences of managing his disease. His success is largely due to his own resilient, positive outlook (admittedly maddening when he would refuse to do what I told him to do), the support of his family, the commitment of Children’s Hospital Boston and its entire staff to children in need, and the continued and remarkable explosion in biomedical and pharmaceutical science that permits physicians like me to offer care that was impossible when Khaled and I first met. In this 40-year relationship–fully half my own life–I have found unexpected lessons about doctoring, the advance of medicine, and our system of healthcare itself.

More here.