Courtney’s story: Piecing together a genetic puzzle

Courtney, who has Loeys-Dietz syndrome poses after her college graduation. Courtney was born 22 years ago with a cleft palate, two clubbed feet and fists that were so tightly clenched they couldn’t be pulled apart. Since Courtney was an otherwise happy and healthy baby, neither her parents nor her doctor saw cause to be concerned about these seemingly unrelated conditions. What they didn’t realize was that these were the first clues to a genetic puzzle that would take ten years to unravel.

The next clue came at age 3.

“One day my dad and I were playing peekaboo, and suddenly I couldn’t see,” says Courtney. “My parents rushed me to the hospital and the doctors discovered both my retinas had become detached.” Courtney had already lost vision in her right eye, but the doctors were able to save the vision in her left eye.

Then, at the beginning of second grade, Courtney started having severe back pain.

“It was so bad that I wouldn’t go outside to play with my sisters,” says Courtney. Her parents brought her to an orthopedic specialist at a Boston hospital. He diagnosed her with grade 4 to 5 spondylolisthesis, a condition where the vertebrae in the back are out of place, and recommended immediate surgery. “It was so severe that he couldn’t believe I was still able to walk.”

A second opinion and a puzzle

Courtney’s parents decided they wanted a second opinion. They took her to see Dr. Lawrence Karlin,an orthopedic surgeon at Boston Children’s Hospital.

Courtney, who has Loeys-Dietz syndrome, poses with her dad.
Courtney and her dad

“Dr. Karlin did a bunch of tests on my wrists and hands, and we were all a little confused, since the pain was in my back,” Courtney says. “Then Dr. Karlin told my parents he didn’t want to shock them, but he thought I should see a cardiologist. He had a suspicion something else was going on.”

Karlin sent Courtney to Dr. Ronald Lacro, director of the Cardiovascular Genetics Clinic at Boston Children’s, who did an echocardiogram and ran some other tests. He confirmed Karlin’s suspicions of a bigger problem.

“Dr. Lacro told us my aorta was abnormally large — about the size of a male adult’s. He explained that I had a lot of symptoms of Marfan syndrome, but he couldn’t diagnose me with Marfan because some things didn’t fit.”

Courtney had more visits with Lacro and his team to assess her heart. Karlin had recommended spinal fusion surgery to relieve her back pain, but Lacro needed time to develop a plan for surgery and to make sure her heart was stable enough to go through with surgery.

In third grade, at age 9, Courtney was given clearance to have the operation.

Courtney, who has Loeys-Dietz syndrome, hides under the counter with a snack.

The surgery went well, but Courtney vividly remembers her recovery process. She needed to lay flat for about a week after the surgery — and then had a spica cast, a body cast from her knees to under her armpits, for about three months afterwards.

Last puzzle piece and a diagnosis: Loeys-Dietz syndrome

During that time, Lacro kept an eye on her heart and worked to identify the cause of Courtney’s unique set of symptoms. In 2005, when Courtney was 10, the pieces finally came together.

“During one of my regular visits with Dr. Lacro, something my parents said triggered him to remember a journal article he had recently read about a newly discovered genetic condition.”

That condition was Loeys-Dietz syndrome, a connective tissue disorder, similar to Marfan syndrome, but with some important differences. Lacro had a hunch it might explain Courtney’s symptoms.

“I had genetic testing right away, and was one of the first 100 people in the world diagnosed with Loeys-Dietz syndrome.”

While it was an overwhelming diagnosis, Courtney and her family were happy to finally have a name for her condition, and be able to think about potential problems before they happened.

Time for heart surgery

One of those problems is the risk of aneurysms in the arteries. Lacro had been watching an aneurysm in her aortic root, the part of the aorta closest to the heart. This is a common location for aneurysms in people with connective tissue disorders. When the aneurysm grew to a certain size, Courtney underwent open-heart surgery by Dr. Pedro del Nido, chief of cardiac surgery at Boston Children’s, to replace this part of her aorta.

Courtney, who has Loeys-Dietz syndrome, poses with her sister.
Courtney, right, and her older sister, Leah

Throughout middle school, Courtney continued to work with Karlin to make small adjustments to her spine and have several surgeries to reconstruct her feet. She’s also had jaw surgery to fix her severe overbite. By the time she reached high school, her major surgeries were complete, and she needed only routine appointments and minor procedures.

“Thanks to my team of doctors at Boston Children’s, I went off to college at North Carolina State happy and healthy,” she says. All seemed well.

Another aneurysm

Then, after freshman year, Courtney went in for a routine cardiac MRI. Lacro discovered a large carotid artery aneurysm of the internal carotid artery in her neck, leading to her brain, and arranged for an emergency computed tomography (CT) scan.

“They cleared out the CT machine and called every neurologist available to examine me. They couldn’t understand why I had no symptoms. I felt fine and had been working out all year with no problems.”

Courtney was booked for immediate surgery with Dr. Darren Orbach, co-director of the Cerebrovascular Surgery and Interventions Center to coil the aneurysm.

But then there was a change in plans.

Courtney, who has Loeys-Dietz syndrome, poses with her family.
Courtney and her family

“About 12 hours before the surgery, Dr. Orbach called and said that after discussing with a large group of colleagues he decided not to move ahead with surgery because my arteries are so high risk,” says Courtney. “He decided that if we saw the aneurysm stabilize or even shrink somewhat over a short observation period, then the risk of living with the aneurysm would be lower than the risk of intervening.”

And that’s exactly what Courtney has been doing, living her life and keeping a positive attitude. She hasn’t let Loeys-Dietz or the aneurysm – which she’s affectionately dubbed Arthur — hold her back from reaching her dreams.

“On the scale of things, I do remarkably well — a lot of people with Loeys-Dietz have a lot more struggles than I do,” says Courtney. “I’m still symptom-free and my aneurysm is stable. If I have any questions, I just email Dr. Orbach or any of my team, and they always respond right away.”

Taking on new experiences

This past spring, Courtney graduated with a Bachelor of Science in Genetics from North Carolina State. She’s now in graduate school at the University of South Carolina School of Medicine, working towards a master’s degree in Genetic Counseling. It’s her dream to help other children and families.

Courtney, who has Loeys-Dietz syndrome blows flowers after her college graduation.

“Her whole team at Boston Children’s is so impressed by and proud of Courtney and all of her accomplishments,” says Lacro. “She has a perspective on genetics and medicine that most of us don’t have, and she’s already making a difference in the lives of patients.”

“My journey has been filled with ups and downs, but one constant has been my care at Boston Children’s. This place is a true testament to miracles, and I truly believe I am one. I appreciate it every single day when I wake up and have the opportunity to take on a new experience.”

Learn more about the Cardiovascular Genetics Program.