ALENA AND MIA ROSE

This story is shared by a family whose daughters have GALT.

Please meet Alena and Mia Rose, our happy and healthy children. They both have a metabolic disorder - classical galactosemia, which is detected through Newborn Screening. Here are their stories. Our oldest daughter, Alena, was born in November 2002 in Portland, Oregon. Portland is right across the river from Washington State. Had we been in Washington, our story might have had a different ending. Why? Read on to find out. I had an easy pregnancy with my first child. Everything was prepared and went according to plan. We attended birthing classes, selected a pediatrician, and on the scheduled date went into the hospital for induction. It was an easy delivery and our beautiful baby girl was born. She had a hard time nursing, so Alena got a bottle. It seemed as though Alena did not like the formula as she drank very little, and spat up a lot. To me, a first time Mom who had never been around babies, it seemed normal, so I did not worry about it.

The hospital Alena was born in has the option for newborns to spend the night in the nursery, so that the new mother can get some rest. In the evening we brought Alena to the nursery for the night. On the way back to the room I noticed a wall with brochures. I picked up the brochure about Newborn Screening. It talked about its importance and about metabolic disorders. Neither Ron nor I had ever heard about it. As a worrier, I of course immediately became concerned; Ron reassured me that the chances of anything being wrong would be very minimal. We then stayed in the hospital for another night and were discharged. Alena was all packed up in the car seat, bags packed, and we were ready to leave. That is when I remembered the brochure. I asked the nurse "has this test where the baby's heel is pricked been done?" The nurses checked the file, and guess what? For some reason, even though it is protocol, Alena's newborn screening had not been done. They took her out of the car seat, whisked her away, pricked her heel, brought her back, and home we went. Alena continued to eat only very little, and spat up a lot. We kept charts on the amount she was eating. In the night from day five to day six, she spat up everything, she was dry heaving, and we knew something must be wrong. We saw her pediatrician the same day. Alena's amazing pediatrician had a gut feeling that something was not right, and recommended we go right back to the hospital. That is what we did. Then, around five o'clock a physician came in the room brought in a bottle of soy formula and told me to throw away the other formula. "We now know what is wrong with your baby," he said. Her Newborn Screening came back and she tested positive for galactosemia. I had never heard about galactosemia before. So I asked what it was and I was told that it is a rare metabolic disorder.

He went on to tell me that in the infant stage the babies affected by classical galactosemia are prone to develop E. coli meningitis. Then Alena was whisked away for a spinal tap, the infectious disease physician visited and immediately put her on three antibiotics. The doctor did not wait for the results of the spinal tap to come back. This is what saved our child! The Newborn Screening, a physician from the state lab tracking us down, our extraordinarily amazing physician, and another amazing infectious disease physician. The next day, Alena had a seizure and ended up in the Pediatric Intensive Care Unit. You may remember the first paragraph and ask what does any of this have to do with the Oregon-Washington state line? Well, when Alena was born, Washington State Newborn Screening did not include classical galactosemia. The outcome could have been very different had she been born in Washington! Our second daughter, Mia Rose, was born in 2006. As we already had a child with classical galactosemia we knew that the chances were 1:4 for our second child to have this disorder. This time however, we knew about Newborn Screening and were prepared. We were not scared about classic galactosemia, just frightened that she may also develop E. coli meningitis. We prepared for her arrival. We ordered an additional Newborn Screening, made sure that there would be plenty of soy formula at the hospital, my OB put up signs everywhere on the crib "ONLY FEED SOY," and she scheduled collection of cord blood to be sent out to the lab right away to find out as soon as possible about galactosemia in Mia Rose. We had made the plan to feed her only soy formula until the negative – as we were convinced - diagnosis would come back. Both of us were surprised, that based upon the cord blood Mia Rose was also positive. My biggest fear – which did not occur – was that Mia Rose would also get E. coli meningitis. Luckily she never got ill!

Our children are healthy only because of Newborn Screening – I do not want to imagine where we would be today, or what would have happened had Oregon not tested for galactosemia on the Newborn Screening. Oh, and by the way, although galactosemia is a part of our life, it does not rule our lives. It is perfectly manageable. You can learn more about us and follow our daily life with galactosemia at my blog www.galactopdx.blogspot.com.

Beate Weiss-Krull and Ron Krull

If you would like to share your own family's story, please contact us at email@savebabies.org.

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