Posted on Feb 13,2018
Before they were even placed in her arms as newborns, she worried about them.
Bobbi knew throughout both pregnancies that each of her sons had the possibility of inheriting the frightening heart condition that plagued their father’s childhood, requiring multiple surgeries well into adulthood. But Bobbi was determined to take action to ensure that her boys, Ulrick, 10, and Ulijah, 5, would remain as healthy as possible.
Fortunately for Bobbi, who lives in Wauchula, Florida, her first son was referred to Johns Hopkins All Children’s Hospital for genetic testing. “Ulrick was my first and I was a little scared to find out, but knowing is better,” she reasons.
The medical team at Johns Hopkins All Children’s helped her gain an in-depth understanding of Marfan syndrome, a genetic disorder that affects the connective tissue that holds all the body's cells, organs and tissue together. “I spent many nights crying and praying. I just wanted a healthy baby boy,” she recalls.
Both of her boys have been diagnosed with Marfan syndrome. Their father, Ulrick Sr., who had a mechanical heart valve replacement as a child, was not diagnosed with Marfan syndrome until many years after his heart condition became apparent.
“The family came to us initially because the father has Marfan syndrome, which causes increased chance for dilation and rupture of the aorta,” explains Melissa Crenshaw, M.D., medical director for the Clinical Genetics Program at Johns Hopkins All Children’s. Unlike their father, the boys were diagnosed early through a simple blood test, which has enabled them to begin treatment in hopes of avoiding the heart damage and surgeries their father encountered.
“We were able to perform genetic testing confirming the diagnosis at a young age,” Crenshaw says. “Because of this, they can be monitored and also treated with medication to prevent aortic dissection and rupture and other complications of Marfan syndrome.”
Offering a Clinic for Consistency of Care
Genetic testing can help diagnose and lead to treatment for certain inherited conditions, including Marfan syndrome. Because so many of these disorders are heart-related, Crenshaw teamed with cardiologist Peggy Crawford, M.D., to create the Cardiac-Genetics Clinic at Johns Hopkins All Children’s that would bring together specialists and encourage collaboration.
“New tests that are more accurate and offer more information are being introduced every day,” Crenshaw says. “It allows us to offer the most innovative information to our families and to coordinate that information with our cardiologists, surgeons and other physicians, which allows us to make a diagnosis sooner and more efficiently.”
Crawford agreed that the clinic brings care together for the benefit of the patient.
“We started the clinic as a way to coordinate care for our patients,” she says. “We help simplify treatment for families. For instance, because Ulrick and Ulijah are both receiving care, we do what we can to coordinate appointments and save travel time for families like theirs who travel several hours to be seen in our clinic.”
Though they are both thriving with proper care, the boys are seen several times a year for checkups at the clinic and in cardiology.
“The boys love it at Johns Hopkins All Children’s. They know the drill,” their mom, Bobbi, explains with a laugh. “As soon as we walk in the examining room, my youngest starts taking off his shoes and hops on the table. Everyone is very friendly and the boys adore Dr. Crawford. I’m sure they will be seeing cardiologists throughout their lives, but we’ll stick with her as long as we can.”
“We are able to review the patients and collaborate together so that we are giving a consistent message and plan of care to the family at the visit. And we can make more informed decisions because we have all the information available during the evaluation rather than me referring a patient in to cardiology, or Dr. Crawford referring the patient to me, and then waiting some time before the other specialist sees the patient, we are able to make a diagnosis sooner and more efficiently,” Crenshaw concludes.
“The boys are night and day in personality considering they have the same medical conditions, but they are the happiest kids and I try my best for them to lead normal lives,” Bobbi concludes. Ulrick and Ulijah have few limitations and are loving their lives thanks to early diagnosis made possible by the latest genetic testing at the Johns Hopkins All Children’s Cardiac-Genetics Clinic.
Visit HopkinsAllChildrens.org/Genetics to learn more about the Clinical Genetics Program at Johns Hopkins All Children’s Hospital.