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 the 2017 winning essay below.
Photographs by Ian MacLellan
I remember it all so vividly: Our conscientious and compassionate geneticists had given us an ultra-rare diagnosis: hereditary spastic paraplegia type 47 (SPG47). There were nine others diagnosed in the world that they knew of at that time, and no one was researching treatment. They comforted us as best that they could, explaining that this disorder is almost unrecognized and is definitely understudied, due to the rarity. They suggested that maybe it was just the worst cases that made it to the publications, that there might be others less affected, and that hopefully our daughter would fall into this category. This could be a disorder that runs the gamut from mild to severe, and that left us with hope. But we knew that we could not rely on hope alone.
After a short grieving period, we formed a nonprofit, Cure SPG47. We were determined to raise funds for research to stop the devastating progression of this neurodegenerative disorder. When brainstorming which people we should approach for guidance, my husband recalled a friend from college whom he knew to be not only incredibly caring but also a brilliant and accomplished genetic counselor who worked at the Translational Neuroscience Center (TNC) at Boston Children’s Hospital. After having no interaction for almost 15 years, my husband contacted Kira Dies with the details of our plight and asked for her involvement as a board member. She accepted immediately and, almost as quickly, began setting us up for success.
When she heard we were coordinating a meeting of experts from overseas and across the nation to discuss potential research options, she followed up with an email, having spoken with her department director. In addition to offering a meeting room at the TNC, with the help of an audiovisual team and their equipment, they would also provide our guests light food and refreshments. This was only the beginning.
Kira began to spread the word about our meeting, securing even more specialized and extraordinary medical professionals to attend and weigh in. Most notably, she introduced us to Robin Kleiman at the TNC and Darius Ebrahimi-Fakhari from the Sahin Lab, which specializes in cellular mechanisms of axonal and synaptic development and their relationship to neurological dysfunction. Once Kleiman and Ebrahimi-Fakhari heard about our research goals for our daughter and Cure SPG47, they proposed something we never expected: another research option for us. A dedicated study of induced pluripotent stem cells through Boston Children’s Hospital. While this was more than we could ever ask for, Kira has continued to support us by suggesting media and advocacy opportunities, as well as offering her expertise when we have questions about grants or, really, anything that occurs to us to ask her.
When we first approached Kira, we knew she would be able to offer the perspective and experience necessary for maintaining our nonprofit. What we didn’t know was how seriously and proactively she would campaign for our plight. She has opened doors and forged connections that we could not have dreamed of. Through her efforts, we have even more reason to wake up with purpose and optimism, rather than hopelessness and heartache. And now we are finding more children with SPG47. Those parents, like us, cherish the idea of a future in which our dedication today results in therapies that allow our children to thrive and make gains. In this way, Kira’s impact far exceeds that of just our family. Because now, when a parent sits stricken with grief at their child’s diagnosis, and desperately asks, “What about research?” the answer will be that some of the most knowledgeable doctors in the world are working on it.