Rebecca Scott, New Jersey, USA
Rebecca’s second child was born with galactosemia, a rare condition that affects the way the body can process the carbohydrate in breast milk. Rebecca recalls the events that led up to the diagnosis and shares more information about the condition.
Please note: This article is a personal story of one mother-baby experience. The parents were working with a team of healthcare providers and made an informed decision to resume breastfeeding their infant with Duarte galactosemia. However, some research has been published showing the potential for greater risks of later developmental problems associated with this complex medical condition and the provision of human milk or substitutes containing lactose. LLLI urges parents to continue to work closely with their healthcare team in any type of medical situation affecting their infant and stay informed about the latest research information and recommendations.
We were so excited to be welcoming another baby into our family. My second pregnancy was similar to my first; just a little more morning sickness. Everything was going well, my baby was growing normally and I had found a midwife who would deliver my child at my home.
Once my active labor began there was no stopping it; my daughter Savannah was born in the dining room of my childhood home on November 9 in 2014. I breastfed my firstborn, Owen, until he was four-years-old and naturally when Savannah joined us, I immediately put her to the breast. She latched right on after birth and nursed wonderfully. I was much more at ease because it was my second time doing this. We arranged with our pediatrician to perform the newborn screening—phenylketonuria (PKU) test—by heel prick expecting everything to come back normal just as it did with Savannah’s brother.
Fast forward to December 22, when I received a phone call from our pediatrician. It had taken over a month to find out the results from her newborn screening test! In the call I was told that there was an issue with her test result and I needed to stop breastfeeding immediately. The test that came back abnormal was for a genetic mutation called galactosemia. I’m not actually sure what the pediatrician told me after she uttered the words; “You need to stop breastfeeding immediately.” I couldn’t wrap my head around not being able to have that bond with my daughter when I had worked so hard to maintain it with my son. She would miss out on so much nourishment and all the health benefits. I was crushed! Thankfully, we were living with my parents and my mother was with me when I received the phone call. My mother called our pediatrician back and received all the details. We pushed for an appointment to be re-tested, although our pediatrician assured us the results wouldn’t change. This time the test results were rushed through in about a week but once again showed the same result.
The major carbohydrate in human milk is lactose. When lactose is digested, it breaks down into two molecules: glucose and galactose. Galactosemia is a rare genetic metabolic disorder that affects an individual’s ability to metabolize (process) galactose. Galactosemia is caused by errors in the genes for the three main enzymes responsible for adequate galactose breakdown. For individuals with galactosemia, the enzymes needed for metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose or galactose 1-phosphsate (dependent on which enzyme is missing).
There are three basic forms of galactosemia: classic galactosemia, clinical variant galactosemia and biochemical variant galactosemia (Duarte galactosemia). Each one has its own clinical picture and recommended care plan. Classic galactosemia, the most severe form of the disease, can result in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, vomiting, seizures, hypoglycemia, lethargy, brain damage and ovarian failure. Without proper diagnosis and early treatment, 75% of infants with galactosemia die and that is why the newborn screening test is so important.
Galactosemia is inherited in an autosomal recessive manner. Inheriting a defective gene from both parents is required to show the disease. Offspring that inherit one normal gene and one defective gene (heterozygotes) are carriers of the disease but do not show symptoms.
Duarte galactosemia (DG) is also known as Duarte variant galactosemia, DB, or biochemical variant galactosemia. Duarte galactosemia is an inherited condition that is associated with the diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). DG is estimated to affect close to 1 in 4,000 infants born in the United States. Needless to say, we had never heard of any of this and were completely dumbfounded. I didn’t even know what the newborn screening test actually tested for and apparently these vary state by state in the US. When I had my older son, he was born in Connecticut, USA, and luckily, they do include galactosemia in their newborn screening test and he does not have it, in any form.
After the awful phone call, my mother and I bought special formula and bottles. I was devastated! That may be an understatement. I couldn’t get through the baby store without sobbing. Not only did I lose my nursing relationship with my daughter, but she had a disorder that I had never heard of and I didn’t know what her future would look like. We found a
good genetic doctor, but didn’t get any real answers until about two months later when the results of a series of blood workups came back. During that time, Savannah was on a hydrolyzed, lactose free formula called Nutramigen. The waiting was the worst part. Eventually we learned that Savannah has Duarte galactosemia. A child with DG carries two different types of GALT alleles (forms of a gene), one inherited from each parent. One of these GALT alleles, the G allele, carries a mutation that severely inhibits the function of the encoded GALT enzyme. The other GALT allele, the D or D2 allele, carries mutations that partially compromise the expression and change some biochemical properties of the GALT enzyme. Together, D and G alleles only produce about 25% of the normal level of GALT enzyme activity found in a person with two normal (N) GALT alleles.
My husband and I both had genetic testing done to find out what had happened and also learn the odds of us having another child with classic or Duarte galactosemia. It turns out that both my husband and I are carriers. My husband carries the classic galactosemia gene and I am a DG carrier. There is a one in four chance that another baby would also have DG. We also both have siblings who do not have children yet and we have urged them to get the genetic testing done with their partners before becoming parents.
Even though the results took a long time to arrive, our genetic doctor was amazing. I knew my baby couldn’t have classic galactosemia because she would probably have died if she did due to the length of time that lapsed before we received the initial test results. But I had read a lot of studies and researched everything I could find on the Internet about galactosemia and feared I may not be able to continue to breastfeed.
However, the doctor came in and said that Savannah had DG. What did we want to do? I was so surprised I couldn’t answer when they said continuing to breastfeed her was an option. I was so relieved! Straight after the appointment I sat down in the waiting room and put Savannah to my breast. Savannah had been having the special infant formula for two months and was now four months old. Luckily she latched right back on with little difficulty and, as I was still breastfeeding her older brother, I still had a milk supply. I did need to work on her latch but she seemed to remember how to breastfeed and took to it quickly. Savannah has continued to nurse and doesn’t show signs of weaning anytime soon.
Savannah does not have any dietary restrictions because of her enzyme level. However there is no broadly accepted standard of care for infants with DG. Another well-known hospital near us, would have told us to stop breastfeeding completely and wait until she was 12-months-old to retest. At that age, they would do a galactose challenge, which shows whether a child is able to metabolize dietary galactose sufficiently to prevent the abnormal accumulation of galactose metabolites. However, my doctor recognized that the health benefits of breastfeeding outweigh the potential risks of continued milk exposure for these infants.
Savannah is now a healthy, smart, strong, and amazing little three-year-old. We have not had to do any further testing, since it was not recommended to us. However, I try to advocate for every parent to have the newborn screening done. It could save their child’s life.
Duarte Galactosemia by Armond Goldman, MD
Infants with Duarte galactosemia who consume human milk or a lactose-containing formula are typically, but not always, asymptomatic. Many physicians believe that the Duarte variant of galactosemia does not result in clinical disease either with or without dietary intervention. However, there are reports to the contrary and no adequately powered study either confirming or refuting this assumption has been reported. Be-cause available data about the neurodevelopmental outcomes of children with Duarte variant galactosemia are conflicting, further studies are warranted to determine the long-term outcomes and whether the dietary intake of galactose in the first year of life influences the outcomes. Before such additional studies are performed, a decision con-cerning what to do about galactose in the diet is left to the discretion of the parents and their physician.
Cuthbert C, Klapper H, Elsas L. Diagnosis of inherited disorders of galactose metabo-lism. Curr Protoc Hum Genet. 2008
Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer, JD. Duarte variant galactosemia. GeneReviews® [Internet] 2014
Lynch ME1, Potter NL, Coles CD, Fridovich-Keil JL Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. JIMD Rep. 2015;19:75-84. doi: 10.1007/8904_2014_370. Epub 2015 Feb 15
Powell KK, Van Naarden Braun K, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M. Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 2009
Thanks to medical and research consultants Armond Goldman, MD; Arthur Eidelman, MD; and Claire Dalidowitz, RD for providing the additional medical information for this article.
Rebecca Scott is a Leader in the Manasquan group in New Jersey, USA. She has been a Leader for almost two years. Rebecca has three children, aged six, three, and 17 months. She is a published author of Baby-Led Potty Training: The Art of Elimination Communication. She recently had to make the transition from full time stay-at-home mother to full-time working mother working in private equity accounting.