Newborn Screening Family Stories: Lucia's Story - Minnesota Dept. of Health

Newborn Screening Family Stories:
Lucia's Story

LuciaOn July 12, 2008 we welcomed a beautiful baby girl, Lucia, into our lives. Although she arrived a little later than we had hoped, she was definitely worth the wait! I had a perfect pregnancy, an easy labor, and a beautiful birth. We returned home less than 24 hours after her birth, eager to introduce her to our other children. This meant that we did not stay long enough for the newborn screening test, but returned to the hospital a week later to have the test done.

Two weeks later, she received a clean bill of health from her doctor, but the next day we received a phone call that would change our lives. Lucia was diagnosed with congenital hypothyroidism, a condition we learned was the number one cause of preventable mental retardation, along with causing deafness and a host of other developmental problems. The likelihood of this occurring is 1 in 4,000, although Lucia's case is even more rare since she was born without a thyroid. While congenital hypothyroidism has the potential to have devastating effects, if caught and treated within the first month of life, most babies go on to develop normally. We had no reason whatsoever to believe anything was wrong with our little girl and had we waited until she showed symptoms, her prognosis would probably not be so good. Now she is under the care of a pediatric endocrinologist, taking daily synthetic thyroid hormone, and is thriving. She is very strong, alert, incredibly happy, and showing no signs of impaired development.

My husband and I could not be more thankful for the MDH's newborn screening. Without a doubt, it saved our daughter's life. As a birth doula and childbirth educator, I work with expectant families on a regular basis. Her condition has been difficult for our family, but if this were going to happen to anyone, I feel fortunate that it happened to me since I'm in a position to influence families to make the easy and potentially life-altering decision to participate in the newborn screening program.