domingo, 17 de noviembre de 2013

Genomics|Resources|Video on Genomics and Pediatric Primary Care Practice

Genomics|Resources|Video on Genomics and Pediatric Primary Care Practice

Genomics & Child Health

dioctor and child
CDC podcast: Integrating genomics into pediatric primary care: a public health perspective (2013)
CDC information on pediatric genetics
CDC blog post: Newborn screening: Lives saved and dances danced, National Center for Environmental Health (2013)
United Kingdom: CMO's annual report 2012: Our children deserve better,External Web Site Icon UK Department of Health, November 2013
The role of genomics in improving child health,External Web Site Icon PHG Foundation, Oct 31

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Newborn Screening: Lives Saved and Dances Danced

“It’s ok to have MCADD! You can do whatever you want!” says five-year-old Karina Martinez, happily.


People with medium chain acyl-CoA dehydrogenase deficiency (MCADD) cannot burn fat for energy. Our bodies rely on fat for energy when we don’t eat for a while, such as when we miss a meal, or when we sleep. MCADD symptoms range from low blood sugar to coma or even sudden death. But early detection and treatment can save lives.

Success Story

Karina is just one example of a life saved by newborn screening. Because her MCADD was detected during the critical early stage, today she is a healthy little girl. Her favorite activity is dancing, especially ballet, which includes a role in Cinderella next year. When asked if she has to do anything special because of her condition, she simply says “Eat healthy a bunch of times.” She has had only one extended hospital stay.
With help from her mother, Tara Vicencio, Karina has really taken charge of her MCADD, even at her young age. Tara put together a binder of information for Karina’s pre-kindergarten teachers. Karina carries snacks with her, and the teachers know to let her eat when she says she needs her “fuel.” Karina tells her friends that she has MCADD, but that she is “fine and ok,” and that they should “eat healthy, too.”

Spreading the Word

Tara wants all parents to know that newborn screening “saves lives. It’s so important because without it we would have never known” about Karina’s condition. Tara now talks about newborn screening with friends who are expecting. “It’s really great,” she says, “to know that somebody is looking out for you.”

A Snapshot of Newborn Screening

Shortly after a baby is born, a health professional takes a few drops of blood from the baby’s heel. The blood sample is sent to a state laboratory to be analyzed for several severe disorders. This process, known as newborn screening, is one of the nation’s most successful public health programs because the early identification of severe disorders has led to earlier intervention and life-saving treatments for newborn children.
CDC’s Division of Laboratory Sciences in the National Center for Environmental Health plays an important role in newborn screening by offering the Newborn Screening Quality Assurance Program to local, state, and international laboratories and assuring newborn screening test results are as accurate as possible.

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