I read with interest Carlock and colleagues’ recent article,1 entitled “Developmental Outcomes in Duarte Galactosemia.” This study found that Duarte Galactosemia (DG) was not associated with adverse developmental outcomes in children ages 6–12 years compared with children without DG. The study also found that among children with DG, milk exposure during infancy was not associated with developmental outcomes. As a nurse practitioner, health outcomes researcher, and most importantly, a mother of a child with DG, this article provided much needed answers to the questions I have had about the potential developmental outcomes of my child since he was born in 2015.
I vividly remember the day when I received the telephone call notifying me that my son’s newborn screening (NBS) had screened positive for galactosemia. Additional evaluation was needed, and I was told to halt breastfeeding and bring him to the hospital for bloodwork. My son was only five days old.
What followed was a year of confusion, frustration, and worry. With the diagnosis of DG, I immediately began searching with earnest and then anger for information on treatment. What little guidance I could find was conflicting. Should I resume breastfeeding or not? Should I restrict galactose-containing foods for the first year once solids were started? Should I have my son undergo the “milk challenge,” where galactose-containing foods are introduced and erythrocyte galactose-1-phosphate levels are measured? All of these decisions had to be made and it was unclear what my son’s developmental outcomes would be. Our pediatric geneticist, while helpful, could only make recommendations based on little evidence and mostly clinical judgment. There was no consensus, and treatment regimens varied widely by institution and state.
In the end, I breastfed my son until he was 12 months old. I gave him galactose-containing foods, including dairy, starting at his first birthday. As he got older, I would occasionally look at him and wonder if I had made the right choice in breastfeeding. That is until I read this article.
While Carlock and colleagues end the debate over DG treatment, much work remains. As highlighted in McCandless’s commentary to the article,2 NBS programs need to adjust their cutoff values such that identification of DG and other benign variants of galactosemia are kept to a minimum. Furthermore, it is my opinion that such cutoff values should be standardized across states and BFS programs. Such standardization would likely require enacting a national newborn screening law and financing scheme.3 However, reducing variation in NBS programs and ensuring that conditions added to NBS programs are supported by evidence should be priorities of health care providers and policy makers. Had my son been born in the state that abuts ours, his DG likely would have not been identified, and a year of unnecessary bloodwork, doctors’ visits, and angst, may have been avoided.
CONFLICT OF INTEREST: The author has indicated she has no potential conflicts of interest to disclose.