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Borderline Galactosemia

Rama Ganesan
Blacksburg VA USA
From: NEW BEGINNINGS, Vol. 14 No. 4, July-August 1997, pp. 123-24

We provide articles from our publications from previous years for reference for our Leaders and members. Readers are cautioned to remember that research and medical information change over time.

When my son, Jayanth, was born, I had not anticipated the problems I would have nursing him, nor the strength of my desire to do so. Jayanth did not latch on well, and his blood sugar level was very low. We taught him to nurse over the first few weeks, during which time he received supplements of formula. By about six weeks we had learned to become an effective nursing couple. He began to refuse the formula supplements and became exclusively breastfed.

The difficulty I had nursing Jayanth did not inspire me with confidence about my ability to nurse a newborn. However, I learned from this experience that breastfeeding was a crucial part of my mothering, something for which there was no substitute. I intended to use my experience with my son to build an even better nursing relationship with my next child. When I became pregnant with Shubha, my daughter, I worried that I might encounter problems again, but I also tried to prepare for them. I was elated to see Shubha latch on and nurse like an expert soon after birth. I checked her blood sugar, weighed her, and continued to wake her if necessary to nurse her around the clock. After about a month, I began to relax and saw that we had succeeded in establishing a strong nursing relationship. With both children, I found that the uncertainties I had about my ability to nurse did not take away from the satisfaction I derived from nursing.

At this point the hospital informed us that one of Shubha's test results was questionable, and that the test had to be repeated. The result indicated that Shubha may have insufficient quantities of the enzyme that metabolized galactose. Galactose is the sugar that is obtained from the lactose in milk, and the enzyme that metabolizes this sugar is found mainly in the red blood cells. When galactose is not metabolized, it will reach high levels in the blood and become toxic, causing cataracts in the eyes, damage to the liver and kidneys, and brain damage. The galactosemic baby will fail to thrive on breast milk or formula based on cow's milk. The treatment for this condition is to remove all sources of lactose from the baby's diet and give soy formula.

The pediatrician looked at my growing, healthy baby and suggested that the test may have been inaccurate. Shubha was born at the end of May, and it was possible that the warm temperatures destroyed some of the enzymes in the blood sample before the test was performed. However, we had the test repeated two more times, and still the results were abnormal. By now, Shubha was almost three months old, and I realized with dread that my nursing relationship with my baby might be in jeopardy.

We consulted a pediatric geneticist. He explained that it was possible to have lowered levels of the galactose enzyme, but still be able to metabolize the milk in a normal diet such as human milk. He then performed a more detailed test on Shubha. The results showed that Shubha has a borderline galactosemic condition, or in genetic terms, she has the D/G compound. She has the Duarte variant gene, which produces a lowered level of enzyme, and the galactosemia gene, which produces a negligible amount. For comparison, a normal infant has two normal genes, both of which produce a high level of enzyme. A severe galactosemic patient, on the other hand, has two copies of the gene for galactosemia, and has little or no enzyme. The doctor suggested that the lower level of enzyme Shubha had might be enough to metabolize the galactose in her body. A further test measured the level of galactose in her blood that remained unmetabolized. This showed that she did indeed have elevated levels of galactose. The doctor suggested I wean her.

I protested, saying that I could continue to nurse, but substitute formula or solids for part of the breastfeeding. I could not accept the idea that I had to wean Shubha so early. I was angry with whatever was responsible for Shubha's condition. Certainly it was irrational to feel resentful toward the doctor for suggesting that I wean her, when he was trying to help us. I was also frustrated by the lack of empathy from those close to me. "Just wean her, and give her soy formula, and she will be fine." They failed to grasp how important nursing was to me and to Shubha.

Shubha was just over four months old, and we began feeding her with soy formula and solid foods to reduce her intake of breast milk. She had her own opinions and refused to take formula. She was enthusiastic about solid foods, however, and these substituted for some of the breast milk.

At first, all the efforts I had taken to get her to take other foods did not seem enough to lower her galactose level to normal. By six months of age, though, Shubha's level of galactose had come well within the normal range. It was a time to rejoice, but I remained cautious. I did not restrict her breastfeeding, but made sure she ate a certain amount of solids every day. I had to rely on my intuition about the amount of solids she needed to eat in order to keep her nursing down to a safe level.

When she was tested at nine months, the results confirmed again that her galactose level was very low. Since that time, Shubha has been eating solid foods, but also nurses on demand about five or six times a day. She has never taken formula.

The condition of severe galactosemia occurs once in 40,000 - 60,000 infants. The pediatric geneticist estimated that the borderline condition that Shubha has, the D/G compound, happens once in 2,000 - 3,000 births, which is not all that rare. He also told us later on that no evidence of lasting ill effects has been found in people with D/G compound who were not diagnosed until after the infant stage. While galactose levels may be higher than normal in infants with this borderline condition, it is not known at what point it starts to become harmful. If we were to have another child, we would try to find out much sooner if that child had the same condition.

Shubha is now almost two. To look at her, it is hard to believe that anything was wrong. She has a mass of black hair that she pushes away from her face. She is full of life, and very talkative, instructing me how to nurse her and telling me when the milk is coming. She is a bright, strong, beautiful, and healthy child.

Last updated Wednesday, October 11, 2006 by njb.
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