I Owe My Child’s Life to Newborn Screening

A test that I didn’t even know existed saved my child’s life. September is Newborn Screening Awareness Month, and here is my story.

newborn screeningOn July 15, 2014, I gave birth to my first child. Delivery went okay and we had time for a couple of pictures. But before we could even enjoy skin-to-skin contact, she was whisked away to be put on oxygen. That was the start of the longest seven days of our lives. It seemed we would get one complication resolved just in time for something else to pop up.

It was on day three that we found out our baby had a rare metabolic condition called Galactosemia. I was told to immediately stop breastfeeding; continued dairy consumption would cause damage to her organs and ultimately, death. 

My daughter’s life was saved because of the newborn screening {NBS}, a test conducted using a few drops of blood taken from the heel 24-48 hours after the baby is born. After the initial positive screening, we switched her to soy formula and waited for the results from the follow-up testing to confirm the diagnosis {which they did}. It would take a few days before the various complications she experienced would resolve, but eventually, we were able to take our baby girl home and settle into life with a “rare disease kiddo”.

If I’m being honest, I didn’t think much about the newborn screening after that day. I was thankful it saved our girl’s life, of course; but it wasn’t until two years later when we were attending our first conference about her metabolic condition that I learned the need to educate about the importance of the newborn screening process. 

I was shocked to learn that in some cases there are groups actively encouraging people NOT to get the newborn screening, claiming it would allow the government access to the child’s DNA. These organizations believe in convincing parents to not get the non-invasive, potentially life-saving test. In the case of the presenter at the conference we attended, the hospital nurses eventually persuaded her to have her son tested after someone had approached her during her pregnancy and convinced her to initially refuse the test. She was already home with her seemingly healthy baby when she got the news of the positive screen. Initially, she continued to breastfeed as she waited for the confirmation test – and then her son got sick and was admitted to the NICU. The story has a happy ending, thankfully. But it could have been a different story if this mother hadn’t agreed to the NBS. 

Any family can be affected by a genetic disorder. In our case, my husband and I are both carriers for Galactomseia, which means we each inherited the genes from one of our parents, who also received it from their parents, etc. So even though there aren’t any other document cases of the disorder in our families, the possibility has been there for generations. And there is a real and sad possibility that people in our families – decades ago – may have died from the condition. Galactosemia was first added to the newborn screening in 1963, but wasn’t added to all 50 state’s panels until 2004. Michigan started testing for it in 1985, which was five years after I was born – so thank goodness I am just a carrier.

newborn screeningHaving a baby is supposed to be exciting and fun and full of happiness. And the likelihood of your child having one of the conditions is low, but it is possible. I’m not suggesting expecting parents to lose sleep over the possibility of these conditions, but I am suggesting they make sure to get the newborn screening. According to babysfirsttest.org, each year more than 250 Michigan babies {one in every 450 births} are found to have a condition detected by the NBS. Early diagnosis and intervention are key to ensuring babies have the best outcome possible. 

For more information, including education and training resources visit babysfirsttest.org.

If you have a child who has a condition diagnosed by newborn screening, make sure to share your story this month. You can find a toolkit to help you share your story in the link listed above.

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Hi, I’m Jodie! I live in Williamston with my husband Chris and three girls: Francesca, and twins, Amelia and Annabelle. Since graduating from Central Michigan University (Fire Up, Chips!), I have worked full-time in the world of corporate communications, for 15 years. I also serve on the Galactosemia Foundation board, where I advocate for my two daughters living with the rare metabolic disease. I love Jesus, but I cuss a little and I drink coffee until wine is acceptable. When I can find a minute, I blog about my crazy, blessed life – often the hard stuff, but always with humor (and often a little sarcasm) at JustJoders.blogspot.com. I can’t wait to start sharing my life and learnings with the Mid-Michigan Moms community!