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Letters to the editor.

Dear Editor:

My son Damian was born on April 17, 2008. When Damian was five days old, everything changed. We received a phone call from our children's pediatrician telling us that Damian's newborn screening had come back abnormal for 3-methylcrotonyl-CoA carboxylase deficiency, or 3MCC. After a series of additional tests, we got a definitive diagnosis of 3MCC.

3MCC is an inherited metabolic disorder. People who have this disorder have insufficient levels of an enzyme that breaks down a particular amino acid (leucine) found in protein. In other words, their bodies cannot break down protein properly. Babies who have the disorder generally appear normal at birth but usually develop symptoms during their first few years. Symptoms can range from mild to life threatening and can include vomiting, diarrhea, feeding problems, excessive tiredness, and weak muscle tone. Symptoms generally manifest during an illness or infection. If left untreated, 3MCC can cause developmental delays, seizures, coma, and death. Early intervention and treatment can prevent these complications. Treatment includes a low protein diet and supplements.

The early diagnosis has given our son a chance at a healthy, happy life. We were able to get him on a low protein diet before he could get sick. And the diagnosis allows us to take preventative measures to prevent the horrible consequences when he becomes sick. Without the newborn screening test, my son could have died or suffered lifelong complications because of it.

He was perfect in every way so we would never have suspected that he had such a potentially devastating disorder. My son's 3MCC, like most organic acid disorders, can onset at anytime, and without the early diagnosis, he could have suffered brain damage, seizures, coma, and even death.

A simple test saved my son's life. I am so glad your magazine supports and promotes newborn screening. My son was our sixth child and even I didn't know of the importance of screening at birth. I, myself, now advocate and volunteer for the Save Babies Through Screening Foundation. I have also become involved with Bailey Baio Angel Foundation, founded my Scott and Renee Baio, after their daughter Bailey's false positive newborn screening diagnosis. They promote newborn screening as well as offer support for affected families.
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Author:Larks, Laura
Publication:The Exceptional Parent
Article Type:Letter to the editor
Date:Dec 1, 2008
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