Una historia de crimen real sobre una enfermedad rara

A veces la verdad es más extraña que la ficción, y las enfermedades raras son un misterio para la mayoría de la gente, incluso para quienes las padecen. En una conferencia de escritores de novelas de misterio a la que asistí en Boston, una de las ponentes era una forense que trabajaba como asesora en la serie de televisión Crossing Jordan. Compartió sus inusuales casos con el público, que buscaba realismo e inspiración para sus escritos. 

My ears perked up as she spoke about a terrible story that occurred in 1989 when a woman named Patricia Stallings brought her baby into the ER after the child was vomiting and having difficulty breathing. As the doctors examined the baby, they found high levels of ethylene glycol in the child’s blood, which they suspected was due to antifreeze poisoning. As a result, they removed the child from the mother’s care. Four days after the mother visited her child in foster care, the child became very ill again, and the mother was arrested. The child died shortly after, and the mother was convicted for her son’s murder. 

While serving a life sentence in prison, she gave birth to another child. The child was placed in foster care, but soon the second child also started having symptoms. The medical examiner was called in to study the baby’s bottle, to find proof it had been tampered with poison. After further analysis of the blood with a biochemistry professor, the examiner realized what was misidentified as ethylene glycol was actually propionic acid. The medical examiner remembered a lecture she had in medical school about a genetic disease that caused the body to produce propionic acid, and, after consultation with specialists, the baby was diagnosed with methylmalonic acidemia (MMA).

La madre cumplió dos años de prisión antes de ser liberada en 1991, tras comprobarse que los análisis de laboratorio de las muestras de sangre del primer hijo habían identificado erróneamente el ácido propiónico como etilenglicol, y que tenía MMA.

This story is a cautionary reminder of the many kinds of challenges that people living with rare diseases have faced. Fortunately, with prenatal screening tests available in most states, rare diseases, such as methylmalonic acidemia (MMA) and propionic acidemia (PA), are being diagnosed sooner. With better diagnostics and research into these diseases, we can only hope that, in the future, stories like the one of Patricia Stallings will serve as historical or fictional inspiration.

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