Editor’s Note: Danielle Gerber is the mother of a child with medical complexity and a Family Engagement Specialist for the Waisman Center and the Division of Hospital Medicine and Complex Care at the University of Wisconsin-Madison. - Cara L. Coleman, JD, MPH, Associate Editor, Pediatrics
When you have a baby with critical illness in the neonatal intensive care unit (NICU) or in other hospital settings, as a parent, you are hungry for answers. I can relate to this feeling. I was sure that a genetic diagnosis would make clear how to “treat” my baby. I quickly learned that a genetic diagnosis does not always spell out the best treatment options or lead to treatment. With or without that diagnosis, I knew I wanted my baby to have a good quality of life, so that became my guide in choosing options.
Interestingly, Dr. Monica Wojcik and colleagues wrote about this for the recent issue of Pediatrics in the article titled, “Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants” (10.1542/peds.2024-068197). This article looked at the impact of a genetic diagnosis for critically ill babies. The authors wanted to understand parents’ feelings over time.
What did the study find?
The study found that at first, parents really wanted to know if their babies had genetic causes for their conditions. It seemed that parents hoped that a diagnosis would help with better treatments and understanding their baby’s condition.
Over time, parents of babies without a diagnosis cared less about finding a genetic cause. The study also found that even if a baby was diagnosed with a genetic condition, it didn’t change how healthy the baby was in the long run or impact the baby’s quality of life.
Finally, the study suggests that families need more support to help them cope with their baby’s health issues. Many families had at least one parent who had to stop working. This caused families to feel stressed about money on top of the other stress they already felt about their baby being in the hospital.
What can you do with this article?
- Ask Questions: If your baby is in the hospital and doctors suggest genetic testing, don’t be afraid to ask lots of questions. Knowing the process can help you feel more at ease and work with the care team to make decisions.
- Seek Support: Make connections with other families. Talking to other families who have gone through similar experiences can be very helpful.
- Every state and territory has a family to family health information center that can connect you to information and support.
- Parent to Parent USA offers emotional support to families of children with special healthcare needs. Find a chapter near you.
- Your child’s hospital may have a family advisory council that can connect you to local opportunities. Ask your child’s nurse, doctor, or the patient experience office for information.
Recommendations for Doctors
- Provide Clear Communication: Make sure to explain the genetic testing process and results clearly to parents. This helps them understand what is happening and reduces confusion.
- Offer Ongoing Support: Continue to support families even after they leave the hospital. Regular check-ins can help address any ongoing concerns and improve the family’s overall experience.
