Despite Galactosemia, Ella Grace is a Healthy Baby Girl

By Marie Stanton, Ella’s mom

I went in for my scheduled C-section on June 6, 2012. We had a beautiful little girl – 9lbs 13oz and 21.5 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 and Peyton, I never thought anything of it when it was time for Ella to have her newborn screening test. The nurses took her for a few moments and then she was back happily nursing in my arms.

At birth she was a little jaundiced 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. We were told she could not be released and would have to be placed under phototherapy lights to help with the 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, lots of vomiting, and altogether refused to nurse. At the time no one knew what was wrong, but in my heart I knew something was seriously wrong.

Luckily we were still in the hospital (6 days at this point) when her newborn screening results 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 newborn screening test came back positive for a very rare (1 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 had never heard of galactosemia, no one in our family had ever heard of it or knew of anyone that had it. I stopped nursing immediately (I was heartbroken) and she was placed on a soy based formula.

Ella spent some time in the NICU and is now a healthy, happy baby.  She doesn’t have any long term damage and her development is right on track!  We are so thankful for newborn screening; for the New York state public health lab calling the hospital and her doctors with her results; for her pediatrician deciding not to release Ella from the hospital; and for all the amazing nurses and hospital staff that took care of our sweet girl. Newborn screening was crucial in saving our Ella from a longer road to recovery or worse.  We feel blessed!