Last week I was surprised to see Magali again. I hadn't seen her in a couple of years, since she almost bled to death trying to carry a pregnancy that she should never have attempted. She was so angry at me for telling her the truth, that a pregnancy could kill her, so she went ahead with her boyfriend and conceived anyway. As a Mexican woman, the thought of not being able to offer a child means being cut off and thrown away by most men. So she went ahead, got pregnant, and as her aorta began to rip apart she was forced to have an emergency C-section and dangerous replacement of a large section of her aorta. Somehow, I don't know how, it's a miracle, she and her baby survived.
She hadn't talked to me for a long time, but a couple weeks before she told me she was concerned about her daughter Jazlyn, now age 5. Could Jazlyn have the same Marfan's Syndrome as her mother? We agreed that she would bring her in.
Mexican children are taught to be polite to their elders, and so any child, age 18 months and above will offer a formal handshake. The day Jazlyn came in, I walked into the room, she held out her hand, and when I took her hand in mine, I recognized the same long spindly and flexible fingers as her mother, the same fingers that indicated she probably has Marfan's syndrome too. Medical books call this "arachnodactyly", or spider-like fingers. Of course I needed to go over her exam more formally. Yes, she was way above normal height for her age. Yes her fingers and wrists had almost rubber-like flexibility. We talked about the genetics of Marfan's syndrome that her daughter had a50% chance of having the disease, and that we needed to start monitoring Jazlyn's heart and blood vessels. I hope Jazlyn will not have to make the same choice as her mother, between remaining childless and loveless or risk of death from attempting pregnancy.
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