Docs mistook girl's regular vomiting for milk reflux

Medical Mysteries is a series that spotlights rare diseases or unusual conditions.

- Judith Tan

When people hear "MMA", they are likely to think of mixed martial arts. But for property agent Daniel Lim, 56, and his wife Michelle Tan, 54, MMA has an entirely different meaning. It is an abbreviation for methylmalonic acidemia, the genetic condition their only child Francesca is living with.

The rare genetic metabolic disorder affects the body's ability to break down certain proteins properly. When this process fails, toxic substances, particularly methylmalonic acid, accumulate in the blood, leading to serious health complications.

The life expectancy for someone with MMA varies significantly by type and age of onset. However, patients with severe cases with early onset have a poor prognosis, with many dying within 1½ years.

MMA is typically detected at birth through routine newborn screening. Francesca, 17, was not diagnosed until she was four months old.

"She was not drinking well and was not even keeping her milk down. She vomited regularly as soon as she was breastfed. We took her to the GP (general practitioner) and to her pediatrician.

"Both told us the same thing – that it was milk reflux and that it was normal for babies to throw up," Ms Tan, a procurement executive, told The Straits Times.

What Francesca actually has is a potentially life-threatening condition.

"It was a weekend in 2008, and I recall us trying to play with her, but she wasn't responding. We rushed her to KKH (KK Women's and Children's Hospital)," Ms Tan said.

"You could call it either a coincidence or a blessing, as the doctor who was on duty in the emergency room at the time happened to be Dr Tan. She examined Francesca and asked for tests to be carried out. It was the following day when she diagnosed Francesca with MMA."

The "Dr Tan" Francesca's mother was referring to is Associate Professor Tan Ee Shien, who heads genetics service at KKH.