Post by Carrie Haverty, MS, CGC, Senior Director of Clinical Products (Prenatal Screening), Counsyl
Early in my career as a genetic counselor at Massachusetts General Hospital, I worked with a patient who had a son with Down syndrome. He was diagnosed after delivery, and now mom was pregnant with her second. She sat in my office preparing to have a CVS (chorionic villus sampling) and in my youthful inexperience, I asked her what she would “do” with the information from the test. She said she would not consider a pregnancy termination, but she also did not want to be surprised. There was inherent value in knowing what was to come and to prepare for it in advance.
We talked about the day her first son was born, and the feeling of doom that sunk in when she received the diagnosis. Everyone seemed to be focused on what they felt was “bad news.” For her, it was not bad news…just different news. It was a personal call to readjust expectations and embrace the unanticipated moments that define motherhood. I learned a lot from this patient.
Since that point in my career, I have counseled tens of thousands of patients, and I have also become a mother. I have been humbled by the resilience and fortitude that women and their partners continually display in the face of complex decisions. Sometimes, pregnancy termination ends up being the best option. For others, preparation is a mental, physical and financial endeavor. They pray, they seek the advice of medical specialists, join support groups, and soak up as much information as possible. Sometimes they raise money for an advocacy group or even start their own nonprofit. I have witnessed parents changing jobs for better health care coverage or moving to another city for early intervention access. They take time to educate their children, friends, and family. Simply put, they take charge.
Down Syndrome Awareness is an opportunity to celebrate individuals with the condition and the families and providers who support them. We are honored to play our part in allowing patients extra time to prepare for the management of their pregnancies.
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