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Canadian Newborn Screening Program Helps Identify Life-Threatening Conditions

Thanks to British Colombia’s newborn screening program, health care providers are able to accurately and quickly identify life-threatening conditions in babies. While some diseases are easily identifiable, some require further testing to be identified. With the mandate of the program, parents can feel more secure knowing that their baby is in the best care possible.

A family from Victoria is grateful for the program because it was able to help identify a potentially life-threatening condition in their little girl that would have been overlooked if the process wasn’t in place. Emilie Major was ready to bring her daughter, Marie, home days after she was born. The nurses, however, encouraged her to stay because Marie hasn’t gone through the newborn screening. With that, they took a small amount of blood from the baby’s heel and pressed it onto a card that was sent for further testing.

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At first, the screening seemed unnecessary, as Marie was a happy and healthy baby. However, six days after her birth, her family started to notice that she was not waking up as much and wasn’t as hungry that often. Later that day, the nurses gave the family a call to inform them that Marie’s blood test showed she has galactosemia: a metabolic disorder that makes it difficult to process simple sugar in food and milk.

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Other than galactosemia, the program tests for 24 other conditions that newborns could have. These include hypothyroidism and cystic fibrosis. The program director, Dr. Hillary Vallance, states that over 45,000 babies are tested annually, and one in every 1,000 will be identified with a condition. With such a high rate, early detection is key to ensuring the babies will be properly cared for, which is why the program is so important.

Currently, the hospital is hoping to raise $650,000 for new testing equipment in an effort to further improve the life-saving program. Without the insistence of the nurses and the availability of the testing process, Marie could’ve been in a worse situation. Now she is thriving on her special dairy-free diet a year and a half later—all thanks to a small test.

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