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.
Page last edited Sun Oct 14 09:30:36 UTC 2007.
