Sometimes truth is stranger than fiction, and rare disease is a mystery for most people, including those who have it. At a mystery writers conference I attended in Boston, one of the presenters was a Medical Examiner, who served as the consultant for the TV show, Crossing Jordan. She shared her unusual cases with the audience, who were looking for realism and inspiration for their writing. 

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’s visit to 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 which caused the body to produce propionic acid, and, after consultation with specialists, the baby was diagnosed with methylmalonic acidemia (MMA).

The mother served two years in prison before being released in 1991, following proof that the lab testing of the blood samples of the first child had mistakenly identified propionic acid as ethylene glycol, and that he had MMA.

This story is a cautionary reminder of the many kinds of challenges that people living with rare disease 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.