The Code Talker Award is an annual essay contest for patients, peers and caregivers to pay tribute to a genetic counselor who has made a lasting impact. Read one of the 2017 finalist essays below.
Photographs by Eli Meir Kaplan
Our relationship with Melanie began after our son, Adam, and future daughter-in-law, Anne, went through genetic testing before their wedding. Based on their results, my husband and I were referred for testing as well. Adam had previously been diagnosed with myotonia congenita, a rare genetic disorder, so we were understandably anxious about further testing and what it might mean for our extended family.
Melanie virtually held our hands throughout the testing process. Through telegenetics, Melanie was able to explain, in detail, every step along the way and even repeat the same explanation for multiple members of our family at different times, as needed. This was crucial, as our family is spread over multiple countries. We sent innumerable questions to Melanie, via email and telephone. Her patience never wavered and her answers were always clear, thoughtful, easily understood, and delivered with great kindness. When the testing results came back, Melanie arranged an online chat with all of us, patiently explaining the medical complexities as well as the technological ones. She arranged a comprehensive presentation to ensure that all of us grasped everything and had a reference to rely on in the future. We really felt we were speaking face-to-face, despite the distances between us, and Melanie was able to answer all our questions as needed.
Approximately eight months after testing was completed for Adam and Anne, our daughter, Eliana, who lives in Israel, contacted me to say she needed the results from the family testing as she was going through fertility treatments with her husband. I reached out to Melanie via email, and not surprisingly, she responded immediately. After reviewing our results, a geneticist in Israel determined that they required further DNA testing of my blood to ascertain risk factors for Eliana’s future pregnancies. A complex situation arose of how to get a sample of my blood to Israel for the testing. Although Melanie was in no way connected to the inquiry for our daughter, she immediately offered her usual compassion and kindness to help us do whatever was necessary to get my daughter whatever she needed.
While Melanie was traveling for a medical conference, she was communicating, on her own time during short lunch breaks, with us and with a friend of hers who works at a lab, to coordinate getting my blood drawn and sent to Israel. Melanie put immense effort into helping us, long after her “job” of working with Adam and Anne was over. It was purely out of the goodness of her heart that Melanie was willing to go so far above and beyond the call of duty to first put me in touch with others, and later to coordinate with them, to facilitate further testing and shipping samples overseas. Melanie even spelled out the exact questions necessary to determine precisely what needed to be done by all the other professionals involved in my daughter’s care. She was thorough, precise, compassionate, and always found time for us.
As a medical professional, I understand the importance of showing human kindness to patients and how challenging that can sometimes be. I believe that effort is never wasted and often makes a significant impact. Being a patient is a physically and psychologically challenging experience for everyone, regardless of diagnosis. Kind, sympathetic, and patient staff can soften some of the hard edges of the experience and help us to find wellness. I always strove to treat my patients as I would want to be treated. To me, Melanie embodies that standard of care.
No words can describe the feeling of helplessness in seeing one’s children cope with a genetic diagnosis. Melanie was unbelievably patient and kind; we asked her to repeat and clarify many things as we struggled to understand concepts, which are extremely complex and quite daunting. She always managed to combine professionalism with kindness, and no question was ever too small or insignificant. Melanie is a credit to her profession, and those of us who have been lucky enough to work with her have been blessed.
Thanks so much, Melanie, for being the special soul that you are.