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When it Comes to Rare Diseases, Newborn Screenings Matter

Posted on Feb. 29th, 2016 at 10:15am

For some newborns, a simple heel prick can make the difference between a life lived to its full potential and one negatively impacted by metabolic disease. Mead Johnson has a long history of supporting newborn screenings and is issuing this special reminder in honor of Rare Disease Day.

Latest statistics show that six to eight percent (or 545 million people) of the world’s population are living with a rare disease.*

In the United States, all infants born in hospitals undergo newborn screenings before heading home with their families. That’s not always the case in many of the world’s developing countries, where awareness is low and lack of resources can prevent infants from receiving these lifesaving screenings.

Mead Johnson is looking to change that over time, most recently making significant funding commitments in support of education and screening programs in Vietnam and Hong Kong.

Congenital anomalies, such as maple syrup urine disease and Phenylketonuria (PKU), affect the body’s ability to digest one or more amino acids. Although fairly rare in terms of occurrence, these conditions account for 20 percent of all cases of mortality in children under the age of 5 in Vietnam.** In 2014, Mead Johnson joined forces with the Department of Maternal and Child Health (Ministry of Health) and the National Hospital of Pediatrics in Hanoi to begin reversing this trend.

As far back as 1999, MJN Vietnam piloted a nationwide program to screen newborns for congenital metabolic disorders (CMDs). This latest renewal of “Raising Awareness of Screening, Diagnosing and Treatment of Congenital Metabolic Disorders” not only trains healthcare professionals to screen for and diagnose CMDs, but also provides specialized metabolic nutritional products to infants from needy families diagnosed with CMDs to help manage their condition.

Just last year, Mead Johnson launched a similar education and screening initiative in Hong Kong, where one in every 4,000 newborns are born with a CMD.

Through their program entitled Vital Step, MJN Hong Kong is supporting research and development of newborn screening tests, conducting education seminars for expecting parents and providing support to diagnosed families. The company also partnered with the Joshua Hellman Foundation for Orphan Disease to cover the cost of 500 newborns screenings during the last two months of 2015.

“Without proper diagnosis and intervention, living with CMDs can be very difficult and debilitating. As we observe Rare Disease Day, we need to emphasize the importance of educating families about the benefits of early screening for these metabolic disorders and the difference that our specialty formulations – and ongoing dietary management – can make in supporting healthy growth and development,” said Dr. Colin Rudolph, Mead Johnson’s vice president of global medical affairs and chief medical officer.

To learn more about newborn screenings, click here.

*Joshua Hellman Foundation for Orphan Disease website

**Reported by the World Health Organization in 2008, the last year for which the data are available

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