Sammy was born small and had a hard time gaining weight. When he was 2 months old we learned he had a rare condition, alpha-1 antitrypsin deficiency. This disease, inherited from both sides of our family, significantly impaired Sammy’s liver function, as it does in a very small percentage of patients. We were told that he would probably outgrow this dysfunction, as most children with his condition do because their bodies learn how to compensate for the disease process. But Sammy didn’t.
By the time Sammy was a year old, he had developed the consequences of liver failure. His swollen abdomen and bloodshot eyes reminded me of the cirrhotic patients I cared for as an emergency room doctor. Every night, while changing his diaper, I would feel along his abdomen to measure his liver size and check his belly for fluid. I couldn’t help myself. My identities as a physician and mother were clashing. Sammy was my son, and despite my desire to leave the medicine to his doctors, and only be his mom, he was also my most important patient. Continue reading
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