Unlocking the mystery of Startle disease | Action Medical Research

Touching Lives - April 2015

Unlocking the mystery of Startle disease

ScarlettWhen Scarlett suffered seizures soon after she was born, her parents were shocked to discover the cause was a rare and sometimes fatal genetic disease. Now, diagnosis is possible for many more families.

Scarlett was diagnosed with Startle disease when she was two weeks old. Babies with this rare condition become rigid and unable to move when startled. They sometimes stop breathing, which can prove fatal.

Seizures started when little Scarlett was just three hours old and got progressively worse. While in hospital Scarlett had her first apnoea attack where the muscles and soft tissues in the throat collapse, obstructing breathing. “This was so very frightening to watch. Our baby went blue and shook from head to toe,” recalls her mum, Abbie.

Happily for the family, Scarlett’s diagnosis led to appropriate treatment, and she was able to go home safely after five weeks.

In 2012, aware that around three fifths of cases were still unexplained, Professor Robert Harvey began research funded by Action to better understand genetic causes of Startle disease. The two-year study uncovered additional specific genetic causes of the disease, which can lead to developmental delay as well as severe breathing problems. More than 30 babies received a definitive genetic diagnosis. Understanding the genetic cause means doctors are better placed to predict each child’s future educational needs, monitor breathing problems and, potentially, recommend that parents receive resuscitation training.

Professor Harvey’s research has major implications for future genetic testing worldwide. It means that sick and vulnerable babies may be spared the trauma that little Scarlett and her family went through – and may even save a baby’s life.

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