Recognizing Rare Disease Day 2012

Posted on Feb. 29th, 2012 at 8:45am

On February 29, millions of people around the world will come together to observe Rare Disease Day. The annual global event is organized by the European Organization for Rare Diseases (EURODIS) to raise awareness and bring widespread recognition of rare diseases as a worldwide public health concern.

Medical science has identified nearly 7,000 rare diseases. They are chronic, progressive, degenerative and often life threatening with high levels of pain – and, so far, there is no cure for them. Besides dealing with their specific medical condition, people with rare diseases struggle to get a proper diagnosis, find information and get treatment.

Nearly 30 million people live with rare diseases in the United States, another 30 million in Europe, and millions more in all parts of the world. Over 50 percent of those affected are infants or children. As a leader in pediatric nutrition, an important part of our research and development is focused on providing specialized products that support the dietary needs of infants and children with rare genetic diseases.

One such disease, maple syrup urine disease (MSUD), is an inherited rare metabolic disorder, occurring in about one per 180,000 infants, and caused by an inability of the body to properly process certain parts of protein called amino acids. The abnormal accumulation of these amino acids in the body causes a baby’s urine to take on a characteristic maple syrup odor, also resulting in a variety of other symptoms including lethargy, irritability, poor weight gain and feeding problems.

Fortunately, prompt detection and a specialized diet, including a medical food such as BCAD 1 and BCAD 2, can help. In fact, in the Philippines, Mead Johnson is working with the University of the Philippines Institute of Human Genetics and Society for Orphan Disorders to provide children with specialty products that help with the management of the disorder, enabling healthy growth and development for long-term success.

For more information about Rare Disease Day, visit