Mucopolysacharisosis type 6 : Saving Lives Through Medical Research: Alena’s Story

Mucopolysaccharidosis type 6 (MPS 6), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.

 

http://www.einstein.yu.edu – When Dr. Robert Marion diagnosed Alena, a spirited 8-year-old, with a rare and incurable genetic disease, she was not expected to live past her mid-twenties. But biomedical research resulted in the development of an enzyme replacement therapy that has saved Alena’s life. Dr. Marion is director of the Children Evaluation and Rehabilitation Center at Albert Einstein College of Medicine.