You can’t change your genes, but you can change your behavior. You can take steps to prevent disease, lower your risk, or find problems early when treatments work best.
What if my child receives a diagnosis after follow-up testing?
By Rachael Salley and Anna Eames
A positive result from newborn screening does not always lead to a diagnosis, but when a child is diagnosed with a condition through follow-up testing, parents often feel a mix of emotions. Relief that the condition was caught and significant harms were avoided may be coupled with fear, anger, or confusion about what it will mean for their child to live with the condition. Parents may be worried about how to manage the condition, what life will be like for their child, and whether or not future children may be at risk. Fortunately, there are resources available. One of many criteria for including a condition on a state’s newborn screening panel is that an intervention for the condition be readily available. So if a child receives a positive result through newborn screening, a healthcare provider will be able to help parents and family plan a course of action to give their baby a full and happy life.
A child’s pediatrician, geneticist, or other specialist can provide parents with information about what lifestyle modifications need to be made, such as specialized diet, treatments or medications. Parents can find out more information about their child’s specific condition, as well as support, from advocacy groups dedicated to the condition their child has been diagnosed with. Many parents find it comforting to know that most children who are diagnosed with a genetic condition early on go on to live happy, healthy lives, thanks to newborn screening.
Individuals diagnosed through follow-up testing after newborn screening:
While parents will be the ones with the initial life changes and responsibilities, it is important to remember that the child will be the one living with the condition for life. Parents should keep the child informed as he or she grows up and learns how to make lifestyle modifications for him or herself. Learning the importance of sticking to a specific diet, taking a certain medication, or taking various precautions, depending on the condition, are life skills that these children will need to learn in due time. Ensuring that the child has a medical home, in which he or she receives medical care and guidance from a centralized team of physicians and care providers, will ease the transition from child to adolescent to adult healthcare.
For more information on newborn screening, visit www.BabysFirstTest.org.