Podcast: Play in new window
Welcome yall as they in these parts. I am Dr. Paul Smolen, a pediatrician with 32 years of private practice under my belt and the creator of DocSmo .com. Boy am I having fun creating what I call Pedcasts…that’s a short informative podcast about pediatric topics. From the delivery room to the board room, if it concerns children, we talk about it here.
Today, I am going to tell you about an interesting experience I had in the office this week. I was meeting a new patient, whose family lived in the US, but was originally from India. The child was about four years old and had recently moved to Charlotte from the west coast of the US.. We are used to getting a lot of people moving here…why not, Charlotte is a great place to live. Anyway, when I was taking my medical history, I found out that this child has a rare congenital metabolic disorder. What’s that you ask? Well, for those of you who aren’t familiar with this type of problem, let’s take a quick spin down Science lane and get a quick biochemistry refresher class, shall we!
I think we are all aware that our children inherit a set of genes, coded in our DNA, from their Mom and Dad . What you might not understand is the fact that these genes are a unique set of instructions that direct your child’s metabolic machinery, inside their cells. These genes run everything about your child. Like how her cells make cell membranes, when cells need to divide and grow, which enzymes to produce and turn on, how to burn fuel, etc, etc, etc. Once a child is born and their cells have a little time for their metabolism to start functioning, their unique biochemistry can be visible and even measured on just a few drops of blood. This “metabolic signature” is in fact measured and examined on each and every baby born in the US. The idea is to pick up what are called “inborn errors of metabolism” BEFORE they cause disease and alert doctors to take appropriate action. If there is an inborn error of metabolism seen in the child’s biochemistry, this test is designed to alert the child’s pediatrician to take action. Sometimes the fix is a special diet, sometimes the fix is a hormone replacement that a child just can’t produce themselves, and sometimes the correction is a supplement of a cofactor that can correct or compensate for the child’s metabolic defect. The availability and actions taken as a result of these newborn metabolic tests is at the core of modern pediatrics.
OK so back to my new patient. As I was taking this history, his Dad informed me that he had this rare metabolic disorder and it was very difficult for his doctors to figure out what the problem was. I said, why is that, “Didn’t he have a newborn screen done at birth? Where was he born, I asked?” The child’s Dad then told me that his wife really wanted to have her baby in India so they went back to India for the delivery. “Well, didn’t he have a newborn metabolic screen done there, I asked.” “No, they don’t do newborn screens there, he said.” When this child came to the US, his doctors here knew something was wrong with him but it apparently took them two months to figure out that he had an inborn error of metabolism. If he had just been born in the US, anywhere in the US, this wouldn’t have happened. Fortunately, his story had a happy ending but for many children born in India, I am sure the story does not end well.
We have talked previously about how important it is to have babies born in hospitals where professionals can look for and react to emergencies that often happen to newborns. Now we have to add being born in a hospital in the US may be equally important. So the next time you hear the media bashing the American healthcare system as too expensive or too whatever just remember, there is another side to every story.
Thanks for joining me today. As always, your comments are welcome. Join the conversation. This is Dr. Paul Smolen, broadcasting from studio 1E, hoping by all means, that your little ones have healthy genes. Until next time.