By Scott and Marie Stanton, parents of Ella Grace.
I went in for my scheduled C-section on June 6, 2012. We had a beautiful little girl, 9 lbs 13 oz, 21 ½ inches long, named Ella Grace. She had 10 tiny fingers and toes. She had the sweetest little cry. She was the perfect addition to our family! Having had two healthy boys Mitchel, nine, and Peyton, three, I never thought anything of it when it was time for Ella to have to take her newborn screening test. The nurses took her for a few moments, and she was back happily nursing in my arms.
At birth, she was a little jaundice but not enough to cause alarm. By our third day in the hospital, her jaundice was getting worse. Her pediatrician ordered blood work, and her bilirubin levels were very high. Bilirubin, which is produced by the normal breakdown of red blood cells, passes through the liver and is excreted as bile through the intestines. We were told she would not be released and would have to be placed under phototherapy lights to help with her jaundice. I also tried to nurse her every two hours to help get rid of the build-up. The next day her levels were even higher; she was running a fever, vomiting a lot, and altogether refusing to nurse. At the time, no one knew what was wrong. In my heart I knew something serious was wrong.
Luckily we were still in the hospital (six days at this point) when her newborn screening came back. My husband had just left the hospital for the night, and her pediatrician came into my room. The look on his face brought instant tears to my eyes. The look on his face confirmed my fears that something serious was wrong with our baby girl!
Her test came back positive for a very rare (one in 60,000) genetic metabolic disorder called classic galactosemia. She was born without the enzyme to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose. We were in shock! We never heard of galactosemia: no one in our family ever heard of it or knew of anyone that had it. I stopped nursing immediately (I was heart broken) and she was placed on a soy based formula.
Ella spent some time in the NICU and is now a healthy, happy eight month old. She doesn’t have any long-term damage, and her development is right on track! We are so thankful for the Newborn Screening, NY state lab for calling the hospital/doctors, her pediatrician for not releasing Ella from the hospital and all the amazing nurses and hospital staff that took care of our sweet girl. The newborn screening was key in saving our Ella from a longer road to recovery or worse. We feel blessed!