Chinmayee Nagaraj, MS, CGC, has been a genetic counselor at Cincinnati Children's for 10 years.
Making a Difference Every Day: Genetic Counselor Nominated for National Award
Ian McIlvain on his first day of college at Xavier University, where he is studying Arts Administration. Genetic counseling provided him with a diagnosis that helps him better manage his condition.
In the field of human genetics, Chinmayee B. Nagaraj, MS, CGC, is a leading example of an expert genetic counselor. And now she’s been recognized for her outstanding work. She was nominated for the 2022 Heart of Genetic Counseling Award by a patient's mother, Jody McIlvain, based on her son Ian’s care journey.
Presented by the National Society of Genetic Counselors (NSGC) and Invitae, a medical genetics company, the award pays tribute to distinguished genetic counselors who provide exceptional and irreplaceable care to families dealing with major health challenges. In total, 14 genetic counselors were nominated for their life-changing work—and Chinmayee was one of them.
Nominations are submitted by patients, detailing how a genetic counselor helped them in their diagnostic journey and to better understand the genetic condition in their family.
“We are so grateful to have Chinmayee as a member of our team,” said Sara Knapke, clinical manager, Human Genetics. “Her experience, expertise and ability to connect with families exemplifies the unique and critical role of genetic counselors in the era of personalized medicine.”
Chinmayee said she feels honored to have been able to play such an important role in someone's life.
“This patient experience is a testament to both the genetic counseling services as well as the Neuromuscular Clinic team at Cincinnati Children’s,” she said. “On behalf of the teams, I would like to thank Jody for her kind recognition of our efforts and for the nomination for the Heart of Genetic Counseling Award. Being of service to our patients in these ways is gratifying.”
Choosing a Path Toward Genetic Counseling
Genetic counseling is a rewarding, but challenging career path. However, it’s a field that Chinmayee realized she was interested in at an early age—all thanks to reading a book.
“During my high school years, I read a book called "Genome: The Autobiography of a Species in 23 Chapters" by Matt Ridley, which mentioned genetic counseling,” said Chinmayee. “That was my first step towards this profession! Not only did it align with my interests, but it also provided an interactive career which suited my aptitude and allowed me to serve families at a critical time for them. This made it a meaningful path for me.”
Now approaching her 10-year anniversary with Cincinnati Children’s, Chinmayee has served in a number of roles during her time here. She previously worked as a clinical liaison for the Laboratory of Genetics and Genomics (LGG). Currently, her focus is in the Neuromuscular (Neurology) and Pediatric Oncology (CBDI) clinics.
With a passion for spreading knowledge and raising awareness about genetic counselors, Chinmayee is also the education coordinator for the LGG Fellowship program, as well as one of the clinical supervisors for the genetic counseling program at the University of Cincinnati and Cincinnati Children’s.
“Education is an important part of being a genetic counselor,” she said. “Genetic conditions not only affect an individual, but most times, their family members as well. Making a timely diagnosis and providing a family with education is critical for their health and making informed decisions.”
Chinmayee’s passion and commitment to her patients is undeniable. “Being there for them during an overwhelming and difficult time is one of the most satisfying aspects of my job,” she said.
As for what’s next for Ian and his family, they continue to be monitored by the neuromuscular and other teams at Cincinnati Children’s for ongoing care. Ian is now a freshman at Xavier University, focusing his studies on art administration. Chinmayee still stays in touch with the family and continues to be part of their journey.
“It’s not always that we are able to find conclusive answers through genetic testing. We are glad that we were able to find answers for Ian and his family and help them with a clear diagnosis and management plan,” said Chinmayee.
Watch this video highlighting the 2022 nominees. At the 5-minute mark in the video, Jody shares some of her son Ian’s story and why she nominated Chinmayee for this award.
Testimony from a Grateful Mom
In 2014, I brought my 10-year-old son, Ian, to the neuromuscular clinic at Cincinnati Children’s Hospital. We had been noticing for quite some time that he had limited muscle flexibility and issues with his speech. Initially, we thought he just had tight muscles and needed to be more active to move around and stretch more.
Over the next couple of months, the clinic ran several tests, eventually arriving at the conclusion that, while they did agree our son had a health issue, they couldn’t pinpoint what it was. So, we were sent on our way with no real answers.
Over the next five years, on my own, I tried different strategies that I thought would help him, including stretching sessions with a personal trainer, yoga classes and speech therapy. While some of the activities helped for a while, the effects never lasted.
Finally, in August 2019, we went back to Ian’s primary care doctor and requested another evaluation at Cincinnati Children’s. While our appointment was scheduled with the neurologist, it was Chinmayee who met with us first. From that moment on, she has held our hands throughout this whole process, providing the empathy and compassion you need when you’re seeking a diagnosis for your child.
She told us that Ian would need genetic testing and carefully walked us through the steps involved, including telling us what they would be looking for when they tested him for hundreds of muscular genetic mutations.
A couple of months after the test, Chinmayee called to explain the initial findings, which pointed toward a neuromuscular disease known as Emery-Dreifuss muscular dystrophy. However, the findings (the variant classification) came back as uncertain and were not conclusive.
To further dig into this diagnosis and find a conclusive result, Chinmayee and our neurologist recommended more testing. This time with my son’s frozen muscle biopsy taken back in 2014. They wanted to examine his RNA sequencing to see if they could find a more definitive diagnosis. This test is sensitive, required two or three samples, and a lot of coordination from Chinmayee before it was successfully performed.
Finally, we had what we had been looking for—an answer. The RNA sequencing came back as positive, and the variant classification was updated to likely pathogenic. My son Ian, now 18, has a very rare type of Emery-Dreifuss muscular dystrophy.
I am the type of person who will do whatever I can to get an answer. I needed to know my son’s condition so that I could learn more about it and his prognosis. Thanks to Chinmayee, having an answer gave me a sense of relief and a path forward in dealing with his condition.
As soon as Ian was diagnosed in August 2019, he was immediately placed in the care of a team of specialists at Cincinnati Children’s. This includes cardiology, orthopaedic, ENT and other departments. Not only does Emery-Dreifuss affect muscles used for movements, but its top issue is cardiac problems. This can lead to complications, including cardiac arrest. Ian has also been diagnosed with hypertrophic cardiomyopathy, and every 6 months the cardiologists run tests to monitor his heart function. They have also recommended that he avoid strenuous activities and prolonged exposure to heat. He is also encouraged to keep hydrated.
Although Ian now had a diagnosis, my journey with Chinmayee didn’t stop there. Since Emery-Dreifuss is an X-linked inherited condition, she suggested that my four sisters, their children, and me, also be tested for the mutation. This is a handful to keep track of, but Chinmayee and I are cataloging the findings as each family member gets tested. To say the least, Chinmayee knows a lot about my family, and it's a big family at that.
In addition, she and Ian’s neurologist are working on a paper to be published in a scientific journal and will share their findings about my son’s condition at several upcoming scientific conferences. Their efforts will help bring attention to this rare disease in hopes that other families can avoid the long sequence of events we endured to get our diagnosis.
Since our first meeting, Chinmayee has always been extremely responsive, answering all my questions that day, sometimes even less than an hour after I have left her a voicemail. She goes out of her way to talk about non-medical issues, asking how Ian is doing in everyday activities, how our other son is coping, and how I am doing.
This is a big diagnosis for a parent, and she will often ask me what I am doing to take care of myself. She often ends our phone calls by telling me that I am a great mother and that she is impressed with everything I do for Ian. These words of encouragement help me keep going. Chinmayee has become more than our genetic counselor—she’s become our extended family.
Ian McIlvain, proudly displays his own artwork.
Ian traveling with his mother, Jody McIlvain, and father, Timothy McIlvain.