Defeating Galactosemia | My Journey to a Year of Breastfeeding

Galactosemia : “galactose in the blood,” refers to a group of inherited disorders that impair the body's ability to process and produce energy from a sugar called galactose.

It doesn’t sound that scary at first. It’s just a phone call from your pediatrician.

Your baby failed the newborn screening. We’re going to retest her. Right now, there’s no reason to worry about anything. Many times, nothing comes of these tests, especially with the high false positives of Galactosemia.


It gets scary.

Newly postpartum me, latching Genevieve for the first time. Photo by Jessica Worland Photo

Newly postpartum me, latching Genevieve for the first time. Photo by Jessica Worland Photo

Geneveive was our third baby, born a surprise baby girl in a tumultuos end stage labor. She was unconscious at birth and needed resuscitated. After several hours in the nursery though, she was alright. She seemed to really struggle latching. My heart deflated just a little to have such struggles early on. But we kept going.

Do you ever have that pit of your stomach lurch feeling that something terrible is going to happen? The other foot is waiting to drop and you are on the edge of your seat waiting for it. That’s what Evie’s first days of life were like. I kept thinking, feeling, something was wrong.

At day 5, I went to lactation. She hadn’t transferred a drop since birth. She had had zero nutrition outside of the one bottle I gave her the night before since birth. She was a pound under birth weight with a 13% weight loss. Ties. Of course. We can get through this. I left the lactation appointment a bit teary, carrying my baby in a sling and her bililight in a bulky case back through the hospital and out to my car. And then her pediatrician called. Evie had failed her newborn screening.

Galactosemia. The body’s inability to digest human milk. I was told I should consider starting soy formula immediately and cease breastmilk, but I could wait until the rescreen results were in. So on I went, baby in sling, one and three year old in tow, confident my baby was ok… right? She could just be a carrier. She wasn’t going to be on formula. She would be breastfed like my other two.

Galactosemia started creeping into the very corners of my soul. When bad news continued to come from out pediatrician, I not slowly began to slip into the abyss that fear of the unknown can put you in. Galactosemia. Stop breastfeeding. Could damage her ovaries, cause blindness, sepsis, permanent liver damage… death.

I waited one month to see the specialist, a geneticist from Chicago. A dietician. They suspected a variant form of Galactosemia called Duarte. It meant some breastmilk could be ok, but we would need regular blood panels to determine a safe level of intake for her.

So more blood panels we did. More formulas we tried. My baby just cried. She cried endlessly. She cried without the ability to be comforted. She would not look at me. She would not sleep. She would not eat. She just cried. She was sad, she was pitiful and she was in pain. The only thing that seemed to bring her comfort was the one thing I couldn’t give to help her: breastmilk.

Another month goes by and Evie continued to break my heart. I slipped more rapidly into postpartum depression. I became obsessive about my knowledge of Duarte and Galactosemia. What was the right decision? What would happen to my child if I just stopped doing what everyone else said and followed my heart? I missed breastfeeding. Breastfeeding without worry of brain damaging my baby. Breastfeeding without remembering if this was actually supposed to be a formula feed and will her next GAL1P be too elevated to transition off of formula now? Breastfeeding without having to pump and bottle feed after because my body was so tense and so scared for my baby… OF my baby that I could not let down.

Month three. A fancy $50 a can formula. More of the same news. A speech therapist. A developmental therapist. Lactation. ENT. Genetics. Dietician counseling. Plus two more toddlers. I had had enough. My child’s bleeding rashes were enough. Her three months of crying was enough. Enough was enough.

Month four was the first month I exclusively breastfed my Genevieve. I was scared. I was scared other people would know I was feeding her against medical advice. I was scared of the support groups making me into a pariah for choosing milk over soy that wreaked havoc on her little body. But I did. I breastfed through my fears that I was hurting my child, and I watched her change in a matter of days into someone beautiful.

You see Evie decided that whatever enzymes her little body was so deficient in… would be used to the fullest. They work on over time all the time. And her first GAL1P exclusively breastfed was within acceptable treatment ranges… and I cried. Because for the last over 120 days of this child’s existence I feared for her and I let that fear consume me. It ate at me even in my sleep and I let it control so much of my life. I let the enemy consume me.

Month five. Evie was able to stop supplementary feedings. We had months of being told her oral dysfunction was a byproduct of her metabolic disorder. She would have “feeding difficulties”. I should stop looking for a cause. I should stop seeking therapy. It could not be corrected. But intuition in a newly postpartum mother is a powerful tool and it’s truth is uncannily correct. Intuition said keep going. God said I entrusted you as a steward of this child on Earth. And I said I will fight with my last breath to make this journey continue.

Month six. Nothing but extraordinary things happened. Nothing at all happened. Our panels were good. My baby was gaining weight without struggling. She could transfer a full a feed. She was meeting milestones on target. She was… ordinary. The most perfectly ordinary creature.

Last week Genevieve celebrated her first birthday. We successfully reached our impossibly fanatical goal of one year of breastfeeding, with a child that should have never been breastfed according to the scours of naysayers with indeterminate research of what treatment plan garnered the most benefits for our children. When I share with people that I breastfeed my one year old, they are welcome to make jokes, ask inappropriate questions, judge me for offering human milk for my human baby. For they will never know the mountain I moved to reach today. They will never understand the depths of my depression. They have not seen the very limits of my perseverance and determination… except in that one moment, that one comment of… I breastfeed my baby.

Your strengths are made perfect in your weakness.