My Brush with Galactosemia

The birth of my first child in 2003 was terribly traumatizing for me. I was completely unprepared for all the blood, the length of time it takes a vagina to open wide enough for a baby to pass through, and the word galactosemia.

I heard the word for the first time ten days after my daughter was born. A doctor I didn’t know called to tell me that a test from the hospital came back abnormal and I was to get another test as quickly as possible. She also told me I could be slowly poisoning my new baby with my breastmilk and to switch to soy formula immediately. Like within the hour.

As you can imagine, I was beside myself. I reached out for help from my midwife, my pediatrician, and my friends, many of whom were also new mothers and who had, I hoped, gotten the same scary phone call that later turned out to be nothing. My midwife and pediatrician sided with the doctor and told me to rent a breast pump until we could get things straightened out. None of my friends had ever gotten a similar phone call and none had ever heard of galactosemia. They did reassure me, though, that their cousin had a friend who had a baby with lactose intolerance and was doing fine.

Of course, lactose intolerance and galactosemia are not the same thing. Galactosemia is a rare metabolic disease characterized by the body’s inability to digest galactose, a sugar found in human and animal milk. The sugar builds up and becomes toxic in the blood, causing kidney damage, seizures, and death. If you identify galactosemia early enough, your baby will likely live but with serious complications like mental retardation, developmental delays, and infertility in girls. In fact, galactosemia is so devastating that almost all newborns in the United States are screened for it at birth, along with some other, equally horrifying diseases such as phenylketonuria (PKU) and congenital hypothyroidism.

In my gut, I knew my baby didn’t have galactosemia, but I had to do the right thing and switch my daughter cold turkey to soy formula and pray that after 24 hours or so I could go back to breastfeeding and everything would be right with the world again. I took my brand new baby out in the bitter cold and snow of February to the hospital where there are all of these people and all of these germs and got her heel pricked by a needle for a second time, and I cried right along with her.

When the 48-hour marked passed with no word from the hospital and the breast pump I rented from the corner pharmacy failed, I had a nice little meltdown on my living room floor. I was so angry that this was happening to us. Simultaneously, I felt guilty because there are parents out there who live with galactosemia or worse things like Down Syndrome every day, and they actually feel blessed! Here I was just borrowing galactosemia and I felt like the world was ending.

The hospital wound up losing the results of the second test, so we had to get the baby’s heel pricked a third time. While we were waiting for the results of the third test, the hospital found the second test which was also abnormal. That was when I started to feel pure unadulterated panic. I prayed like a child, and I promised myself that I was going to make eradicating galactosemia my life’s mission if it turned out my daughter didn’t have it.

The results of the third test came back closer to normal but the doctors still weren’t comfortable, so they sent us to the only pediatric metabolic geneticist in New Jersey where our precious baby, after having been pricked in the heel three f**king times already, now had to have blood drawn from a teeny tiny vein in her arm. My husband and I also had to have blood drawn.

We arrived at the geneticist’s office accompanied by every relative from both sides of our family. There were like 24 of us sitting in the waiting room. We all had print outs from the Internet, we all had questions, and we were all prepared to give up milk, cheese, yogurt, and ice cream for the rest of our lives should this new member of our family not ever be able to know how delicious they are.

We got through the visit with the geneticist, and then we were sent home for some more waiting. Every time the phone rang, my stomach would lurch. We were still getting cards and presents delivered every day, but there was little joy. Anxiety, fear and guilt reigned in those early weeks, and I felt robbed.

Finally, five weeks after the first phone call, we got the news we prayed for. Our daughter did not have galactosemia–she only carries the gene, which explained why the test results were wonky. My husband carries the gene as well, but I don’t, and so we opened our front door and kicked galactosemia out on its ass forever where it belongs.

My baby sadly never breastfed again, but I made up for it with my second child who had a milk protein allergy completely unrelated to galactosemia and breastfed until he was almost two, and my last who breastfed another 12 months. I can now say without any qualms at all that breastfeeding is the worst thing in the whole world and I don’t know why anyone does it (not really).

My daughter is turning 12 on February 1 and I never did make eradicating galactosemia my life’s mission, but I have donated several times to the Parents of Galactosemic Children, Inc., which has since been renamed the Galactosemia Foundation. They provide critical support to new families dealing with the heartbreaking challenges of galactosemia and network with professionals to inspire treatment and advanced research. I will be donating again this February 1. I hope you will consider donating, too. Here is a link.

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4 thoughts on “My Brush with Galactosemia

    • Then, when she was 6 months old, they thought she might have spina bifida. An ultrasound was inconclusive, so she had to have a cat scan (or maybe it was an MRI, can’t remember), which meant no food for 12 hours before.

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      • oh my gosh, so sorry that you had to go through all of that! my firstborn had to have a spinal tap when she was only 2 months old, and my 2nd had to spend his whole first week in the hospital where they pricked his heel 3 times a day every day, so I remember well what that was like! I was near the edge after just that one week, cant even imagine what that was like having to wait 5 whole weeks for your answer.Thanks for making me aware of this condition!

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