Photograph by Eli Meir Kaplan and Andrew Welch.
The Heart of GC 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 2020 winning essay below.
Our beautiful daughter Kelsie was born in 2004 in Jackson, Mississippi. At her two-week checkup, our pediatrician told us something that no parent wants to hear - that our precious baby girl might have something wrong with her. At first we thought, what is he talking about? She's fine. She's beautiful. But, because her feet turned in and she had a cleft palate in the back of her throat, he suggested we see a geneticist.
Kelsie was tested for all of these terrible diseases, but luckily, all the tests came back negative. With no official diagnosis, we didn't pursue the matter further until about two years later. Kelsie was almost 4 years old and still having problems, including eye issues that required two surgeries, scoliosis, and a concave chest.
The geneticist in Jackson ran more tests, including one for a syndrome that had only been identified in 2005, a year after Kelsie was born. Among the characteristics of Loeys-Dietz syndrome (LDS) is scoliosis, inward-turning feet, and a dilated aorta, which occurs when the aorta dissects away from the heart wall causing an aneurysm - and possibly sudden death.
When Kelsie's test came back positive for LDS, our geneticist immediately referred us to a cardiologist, who discovered she did in fact have a dilated aorta. Three months later, another checkup revealed that Kelsie's aorta had grown, and, even more unbelievable, our doctors told us our 4-year-old little princess would not live past age 20.
We were devastated and completely lost. At that time, Kelsie was the only patient in the state of Mississippi diagnosed with LDS. Our doctors told us we needed to get to Baltimore.
When I called to arrange our visit to Johns Hopkins, Gretchen was the first person I talked to. From the very beginning, she was warm, caring, and welcoming, both on the phone and then when we met with her in Baltimore. I explained to her what the doctors in Jackson had said about Kelsie's very shortened life expectancy. She looked at me in surprise and said, "How dare they! Our oldest patient is 76:' After all of those years of worry, I just wanted to pick her up and kiss her.
From then on, Gretchen has been by our side. Since 2008, we have gone to Baltimore every other year. Gretchen understands our financial situation and has gotten us free airline tickets and resources for lodging. While we're at appointments, she explains what tests are needed and why, and then goes over results in a way that Kelsie can understand.
"When we get good news, she celebrates with us; and when we get not so good news, she cries with us."
In October 2015, when Kelsie was 12, we were told she needed an aortic root replacement surgery. Gretchen knew we were devastated, because it meant a major surgery. She sat us down and went through every detail, from the surgery to the recovery. When our insurance company tried to deny us having the surgery in Baltimore, she knew exactly what to say to convince them.
She also helped with things we didn't think about. For example, Gretchen made sure we had a nonstop flight on our return trip, because Kelsie would not have been able to change planes. She arranged for us to stay at the Ronald McDonald House, and even helped get lodging for our extended family.
"From the moment we landed in Baltimore until we headed home to Jackson, Gretchen was either calling our room or stopping by to see how we were doing. She was with us every step of the way."
Kelsie is now 16 and a junior in high school. She's on the school newspaper and in theater. She has her own relationship with Gretchen and feels very comfortable talking to her oneon-one, even without me in the room. I know that Kelsie is not her only patient though. Gretchen has a great relationship with many LDS kids, including those who attend seminars with the Loeys-Dietz Syndrome Foundation. On her own time and for no pay, Gretchen makes sure the kids who attend have a great week. She'll arrange trips to an Orioles game or a cruise on a pirate ship in the bay. She loves what she does. She has always been there for our family and, most importantly, for Kelsie.