Every day, babies are born with both visible and invisible birth defects and each year about 120,000 babies in the U.S. is born with some type of birth defect. While many people like to believe that birth defects only happen to other people, it simply isn’t true. All babies have about a 3% chance of having a birth defect. Or to put it another way  – one in 33 babies is born with a birth defect and they can and do happen in any family. Most people, if they think about it all, think of birth defects as visible differences like a clubfoot or a cleft lip, but many birth defects are not visible and are not found immediately at birth. One group of birth defects that can’t be seen are inherited metabolic disorders. [https://babygenes.wpengine.com/genes-diseases-references/]
Metabolic disorders are genetic conditions due to variants or changes in genes that result that cause enzyme deficiencies. In the body, enzymes are used to to change food into a form that can be used by your body.  When there is a deficiency of a specific enzyme, the metabolic process does not work correctly which can result in devastating symptoms such as coma, seizures and subsequent intellectual disability. There are hundreds of  different genetic metabolic disorders, and taken separately each disorder is rare. However,  if you count them together, they are relatively common with somewhere between 1/1500 and 1/5000 infants being born with one of these disorders!
While many metabolic disorders have no cure or medical treatment, many of these disorders do have effective treatments that can prevent symptoms from appearing or lessen the severity of the symptoms. But there is a catch – these disorders need to be diagnosed and treatment started BEFORE symptoms appear. But if these disorders are invisible and there are no symptoms apparent, how do people know if their baby has one of these disorders?
The simple answer is newborn screening. [https://babygenes.wpengine.com/bg-newborn-panel/] A simple blood test done shortly after birth can tell you if your baby has one of these conditions and allow for early life-saving treatment.
So if you are considering a pregnancy, be sure to take steps to protect your baby’s health – take your folic acid, don’t drink alcohol and make sure your baby has a newborn screen.