And his last name is...

Guest blogger, back again. This time I'm going to relay a story told to us in class yesterday. As usual, I'll start out with some background info on a relevant disease.

Loeys-Dietz Syndrome is a recently characterized disease (Nature Genetics 37, 275 - 281, 2005) whose patients were previously considered to have Marfan Syndrome. Loeys-Dietz patients present with, among many other findings, bifid uvula, hypertelorism (widely separated eyes), and a tortuous aorta upon imaging. These patients have a propensity for arterial aneurysm generally; they almost invariably experience aortic root aneurysm, although the timescale is variable (from weeks to decades into life).

A family was kind enough to come to talk about living with Loeys-Dietz (they have a child with the syndrome), and they described difficulties they had had with getting their care providers to understand the disease. Their child, for example, needed surgery. Their doctor, who was with us in the auditorium, had called the surgeon to tell him about the relevant details of Loeys-Dietz in order to maximize the surgery's chance of success. The surgeon blew up at him, screaming, "Who do you think you are that you can lecture me about Loeys-Dietz!?"

The doctor, whose name is Dietz, called this one of his 'greatest moments.' I wish I could have heard the rest of the conversation.