By Beate Weiss-Krull
“What is that test this pamphlet is referring to?” I asked my husband after our oldest daughter Alena was born in 2003. I was referring to a brochure about newborn screening I picked up on the way from the nursery back to my hospital room. Metabolic disorders? I had never heard about the test nor given any thought to metabolic disorders before. We had not heard about newborn screening – at least not that we recall. Little did we know at that moment that reading that specific brochure would save our daughter’s life. Why? Let me tell you.
We walked out of the hospital the next day. Bags were packed and Alena was strapped into her car seat. We were ready to leave and that’s when I remembered the brochure. I asked the nurse whether the test had been performed on Alena. She looked at the chart and realized that the newborn screen had for some reason been forgotten. The nurse whisked Alena away, had her heal pricked and off we went. At home we settled into life with our new baby. I had never been around babies before so to me it was not unusual that she was drinking very little, and spitting up so much. Then the night from day 5 to day 6 Alena was not keeping any food down. She was dry-heaving. We worried. Something was not right with our baby. We saw our pediatrician who did not find anything wrong as babies lose weight after they are born. The pediatrician did however have a gut feeling that something was not right. She suggested that we take Alena straight to the hospital for monitoring. After a few hours in the hospital the physician on duty on the pediatric floor came into the room and told me, “We now know what is wrong with your baby! She has Galactosemia and has to be only fed soy formula.” I had never heard about that! When I asked for more information, the physician told me that Alena’s newborn screening test had come back positive for Galactosemia.
Minutes later other physicians came into our room and took Alena for a spinal tap to determine whether E. coli had grown. We were flabbergasted. Without waiting for the results, the infectious disease physician immediately put Alena on several antibiotics. By morning the bacteria had grown and later that morning Alena seized and was transferred to the Pediatric Intensive Care Unit.
Alena was exactly one week old and her diagnosis of Galactosemia was caught just in time. I shudder at the thought what could have happened had I not read the brochure, had the lab not been working that Thanksgiving weekend, had the physician from the Oregon Metabolic Clinic not tried everything to reach us, had our pediatrician not had the guts to tell us about her feeling that something was wrong… Alena is now almost eight years old; a happy and healthy girl.
Here is the plain truth: Alena is only healthy and well today because of the newborn screening test. She is healthy today because newborn screening in the State of Oregon included Galactosemia, a disorder that at the time was not tested for in the State of Washington.
When we were expecting our second child, we already knew the drill. Metabolic disorders are genetic disorders and therefore there was a 25% chance for each baby to get the disorder. We prepared in detail for the delivery of our second baby. The hospital was stocked with soy formula, my OB arranged for cord blood to be tested for Galactosemia, and in addition to the state newborn screening test we also purchased a supplemental private screen. We were convinced that we surely would fall within the 75% so we made sure that our second daughter, Mia Rose, never got any breast milk or anything but soy formula. A week later the results came back. Positive – without a doubt. Mia Rose also had Galactosemia; and because she was never exposed to any galactose she never got sick. Mia Rose is, just like her sister, a very happy and healthy girl.
I realize that without newborn screening our story could be much different and very sad. What if the screen was non-existent? Or the screening was opt-in versus opt-out? Or I had not read the brochure?
Do you want to know what life with a Classic Galactosemia is like? Feel free to follow our life on my blog, and do not forget to spread the word about newborn screening! Thank you for reading our story!