When the body can’t break down fats

Hassan Suraw was ecstatic when he became a dad for the first time. It was a responsibility he was excited about, and his wife was thriving in her new role too. But at the age of 15 months, the Suraws began to notice that baby Nazlin was not quite growing as she should. “She had a poor appetite and general body weakness. As she grew older, she often complained of bone and joint pains. Her stomach was also abnormally large,” says Suraw.

When they took her to hospital, the doctor run some tests and told the worried parents that Nazlin had an enlarged spleen and liver. She was also anaemic with a low count of blood platelets. The doctor would later confirm that she had Gaucher disease.

Gaucher disease is brought about by a malfunctioning enzyme, leading to a build-up of certain fatty substances in certain organs, particularly spleen and liver. “This rare genetic disease is caused by low levels of glucocerebrosidase (GCase). GCase is an enzyme that breaks down a fatty chemical in the body called glucocerebroside,” explains Dr Rosemary Wanjiru, an endocrinologist.