Faces Of: Mason and Elijah

tags: Barth Syndrome Clinic Genetic Counseling Inspiring Stories

This Genetic Counselor Awareness Day, we recognize our dedicated team of genetic counselors and thank them for the compassionate, family-centered care they provide, every day.

Kennedy Krieger’s genetic counselors work closely with individuals impacted by genetic disorders, helping provide them with the answers, guidance, and support they need to navigate their diagnoses. In addition to helping patients and families, our genetic counselors also act as a resource for other health care professionals with questions about genetic conditions.

A photo of Elijah and Mason

Among those positively impacted by the genetic counseling team at the Institute are Mason and Elijah. These two brothers not only come from the same family, but they also share the same diagnosis. Mason and Elijah both have Barth syndrome, a rare genetic disorder that affects many systems of the body, including the muscular, skeletal, and cardiovascular systems.

While Mason and Elijah have the same diagnosis, the way it impacts each of them is significantly different. Mason experienced heart failure, and required a heart transplant, while Elijah experienced low muscle tone and growth delays.

“Having both boys affected by Barth syndrome, but in such different ways, leaves a lot of unanswered questions,” their mom, Josanne says.

Josanne and her family started to receive the answers they were seeking in 2017, when Mason and Elijah first came to the Barth Syndrome Clinic at Kennedy Krieger. Not only has the genetic counseling team helped Josanne and her family, but they’ve also helped Mason and Elijah’s primary care team in New Jersey better understand Barth syndrome and how to treat it.

“Kennedy Krieger has helped us locate the missing link in our sons’ medical care,” Josanne says. “They are the experts and my sons’ local team values their input.”

A photo of Elijah and Mason with their parents and sister.

Josanne notes genetic counselor Rebecca McClellan has been one of the most valuable people on her sons’ medical teams, as well as a valuable support for her family throughout the process of navigating Mason and Elijah’s diagnoses.

“She has gone above and beyond,” Josanne says. “She provided my family with genetic resources when we needed it most.”

Because multiple members of the family have Barth syndrome, Rebecca went beyond her day-to-day job duties, helping the family with extensive carrier testing to help them better understand the source of Barth syndrome in their family.

“She ensured the process was easy and worry-free, and we now have the answers we need,” Josanne says.

Thanks to the help of Rebecca and the genetic counseling team, Josanne’s hopes for Mason and Elijah’s futures are bright.

“As a mother, my only hope is that my boys live full and long lives, filled with joy, love, and family,” she says.

This Genetic Counselor Awareness Day, we thank Rebecca, and all of the genetic counselors at Kennedy Krieger, for providing our patients and families with not only answers to the questions they have about their genetic conditions, but for providing them with hope.