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Galactosemia Mothers' Stories
Sara Brown, Troy, Missouri, USA
Photo: Eleanor, Niamh and Dana by Lisa Scott photography

My sister, Lisa, has been a huge source of support and encouragement to me since we both became moms several years ago. Our first babies were born 11 months apart, and our second children are just three months apart in age. I have enjoyed being able to share experiences and support each other in our values concerning birth, baby wearing, extended breastfeeding, and parenting styles. What an awesome friend she is!

Just two weeks after giving birth to her daughter, Naomi, Lisa received a phone call from her pediatrician’s office. “The Health Department called concerning Naomi’s newborn blood screen. You have to stop nursing immediately and start using soy formula,” she said. That was it. No explanation why. Later that day, Lisa received a phone call from a nurse at the children’s hospital, who fixed up an appointment for the following day. Naomi’s blood screen was positive for galactosemia, a potentially life threatening condition. What a shock! Galacto-what? Stop nursing? What?! Whoever heard of such a thing?

At the appointment, Lisa learned that galactosemia is a rare metabolic disorder in which there is a deficient amount of the enzyme that breaks down the milk sugar galactose into its useable form. Galactose is found in both human milk and cows’ milk. In an affected person, the galactose builds up and will cause kidney, liver, and brain damage, which can be fatal. There are different types of galactosemia: classic galactosemia is the most severe and Duarte galactosemia is a milder version in which some enzymes that convert sugars are present. Further testing would need to be done to determine if Naomi had classic or Duarte galactosemia, was simply an unaffected carrier, or if the test was a false positive—common in the summer months when Naomi was born.

Lisa and her husband were now faced with the dilemma of what to do while waiting the two to four weeks to get the test results. It seemed as if Naomi was not suffering from classic galactosemia because she appeared to be healthy and thriving. But if she did have one of the forms of galactosemia, continuing to nurse could cause irreversible damage. Lisa very much wanted to nurse Naomi. She wanted to give her the immune support, defense against allergies and asthma and the perfect source of nourishment that human milk provides. Lisa was also very fearful that if she switched to a bottle for the two to four weeks while awaiting test results, Naomi might not come back to her breast. She did not want to lose the option to nurse. Could Lisa’s milk really cause Naomi harm?

She wanted to give her the immune support, defense against allergies and asthma and the perfect source of nourishment that human milk provides.

At only two weeks of age, Naomi began receiving soy formula and Lisa began diligently pumping. Every time she fixed a bottle, Lisa would cry tears of confusion, anger, sadness, and helplessness. She desperately wanted to let her baby nurse, but knew possible harm to her baby was not a good option.

The test results came back, and Naomi did have Duarte galactosemia. Lisa learned that treatment for Duarte galactosemia is unclear. Medical opinion is divided as to whether or not a galactose restricted diet is necessary or even helpful. There has been very little research to support either stance. Many health professionals recommend a strict soy diet, but Lisa persisted in her desire to give Naomi breast milk. Under the supervision of the hospital dietitian, Naomi was permitted to nurse part time as long as her blood was drawn every four weeks for her galactose levels to be checked. A small price to pay, Lisa thought.

To Lisa’s immense relief, Naomi latched right on without difficulty. She was allowed to nurse two times a day and receive soy formula for all her other feedings. Every four weeks, Naomi’s blood levels were checked and when they were within the range the doctor deemed acceptable, she was allowed to nurse once more per day. For many months she could nurse only two or three times a day, but as she grew and was eating less frequently, that meant her ratio of milk to formula was increasing. Lisa continued pumping every few hours to maintain her milk supply and soon had a freezer full of pumped milk. She donated a large box full of her pumped milk to a nearby milk bank and then met someone she called her “milk friend.” Lisa was able to provide milk for someone who had not been able to establish breastfeeding but wanted to provide her baby with the benefits of human milk. Lisa supplied her “milk friend” with her expressed breast milk for nine months. What an awesome gift!

At Naomi’s first birthday, she was released from the doctor’s supervision and told she could carry on with life without dietary restrictions. (It has been suggested that the deficient enzyme matures in some mildly affected patients, making dietary restrictions less or fully unnecessary.) She is now 16 months old and a happily nursing toddler. Pumping, bottles, formula, and the emotional distress of dealing with Duarte galactosemia are a rapidly fading memory.

It would have been so easy for Lisa to give up breastfeeding Naomi, but she did not. I am very proud of her for continuing to breastfeed even though it was not the easy thing to do. She is an inspiration to others, demonstrating that nursing with Duarte galactosemia is possible and worth the effort. I look up to her and admire her for persevering through this situation. She is an awesome example of determination and commitment.

Editor’s note: It should be noted that, although uncommon, classic galactosemia is a very serious and life threatening condition that is incompatible with breastfeeding. www.galactosemia.org is a good resource to learn more about this condition.

 


Comments

  1. I have a very similar story as my third child is Duarte galactosemic. Without any support, my husband and I decided to nurse as much as we could. Our sons results came up with only one nursing a day, and I chose the overnight feeding as I cried for the few weeks he had bottles overnight and couldnt be comforted back to sleep. I pumped five months, stored enough milk for him for 14 months and donated quite a bit to other moms who needed more supply.

  2. Barbara Higham Says: February 3, 2016 at 2:13 pm

    Thanks for sharing Becky. We’d love to publish your story too if you ever want to write more about your experience.

  3. Courtney Says: July 20, 2016 at 8:50 am

    I enjoyed reading this story of hope. I am currently awaiting our second test to find out if our newest baby (#4) has Galactosemia. I have exclusively breastfed all three of my other children and I’m having a really hard time mentally preparing for the chance of needing to feed formula.

  4. Breastfeeding Today Says: July 20, 2016 at 10:49 am

    Good luck, Courtney. Hope you and your baby are okay.

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