Editor’s note: The following patient essay was a finalist in the annual Code Talker Award, presented by Genome magazine at NSGC’s Annual Conference. The Code Talker Award was established to recognize the impact genetic counselors have on the health and lives of patients.
Genetic Counselor: Benjamin Helm, MS, CGC
Nominated by Diana Kafantaris
Some might say our story is tragic, worrisome, and full of heartache and loss. But thanks be to God, who in His perfect timing placed in our lives a brilliant medical team and genetic counselor, Benjamin M. Helm. Because of Ben, we can say our story is one of life, miracles, love, and hope.
On April 7, 2014, my husband underwent an aortic root aneurysm repair to fix a 7.1 centimeter in diameter aneurysm that had miraculously been discovered six weeks earlier. There were no symptoms, no warning signs, only a pregnant wife who insisted that he see a cardiologist after a 10-year gap in his medical care. Prenatal screening showed that our unborn son’s heart was healthy. By mid-July, we were rejoicing in our son’s birth and my husband’s newfound health. Only one small shadow had been cast upon our joy: the phrase “Marfan-like syndrome.”
On October 13, 2016, our lives changed forever. During my second pregnancy, our neonatal cardiologist encouraged us to reach out to the cardiovascular genetics team at Riley Children’s Health. On this day we learned that our two precious children had dilated aortas. We were told that their condition indicated a connective tissue disorder, most probably inherited from their father.
Once again, we were facing a medical crisis — one that was chronic, potentially life threatening, and required lifelong monitoring and modifications. This news was a particularly hard blow for us. Our 3-month-old daughter nearly died at birth due to respiratory failure, and we were still grappling with her daily health needs. If it had not been for Ben’s love, care, patience, psychological support, and guidance, enduring this news, along with what was to come in the months ahead, would have been unbearable.
Ben guided us through the process of collecting DNA samples from my husband and our two children. He spent hours on the phone to provide explanations and encouragement when my husband’s and daughter’s results were inconclusive. Not once, but twice, he worked with our medical team and the genetic lab to arrange for genetic testing to be done on DNA samples from overseas. My husband is originally from Greece. It was necessary for us to have genetic information from family abroad to determine a diagnosis. When the genetic results from Greece were not what we were expecting, Ben continued to give us hope. Never once did he allow us to despair.
Ben encouraged us to contact Hal Dietz, one of the two professors of medicine and genetics who discovered Loeys-Dietz syndrome (LDS), a disorder related to Marfan’s syndrome. Ben was faithful in his belief that one day we would find a diagnosis. He was right. A diagnosis finally came. At last, we knew what was ailing us, and a plan of care could be set in motion for us all.
Our family is afflicted with LDS. A correct diagnosis was difficult for us to receive because our gene sequence contains two mutations: one thought to be benign and one never before recorded in the international databases. A correct diagnosis required corroboration from three genetic labs and the diligent work of our genetic counselor. In total, nine members of our family were tested. Five were discovered to have these unique mutations and LDS.
We are forever grateful to Ben for all he has done for us. He made us feel like family. We were not numbers, nor research projects. Rather, he was empathetic and proved over and over again how much he cares about our family’s health and well-being.
Ben showed great understanding and sensitivity while working with our family, who comes from a culture where medical problems are rarely spoken about. He respected these boundaries and always kept the psychological wellness of those involved at the forefront of every action.
When we lost our mother in Greece on April 18, 2017, Ben was there to comfort us in our sorrow, expressing his sincere condolences and love. That day, Ben became more than our genetic counselor. He became our brother who will help guide us through the continuing questions we will have and the challenges we will face.
Ben, we sincerely thank you for giving us back life and hope!
In 2017, genetic counselors Ben Helm, Melanie Hardy and Kira Dies were recognized for their hard work and commitment toward their patients.
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