Lori Hughes wants people to know about midaortic syndrome. She talks to friends, family and teachers, and even runs a private Facebook group called MAS Kids for families dealing with this rare condition. “I remember how I felt 10 years ago,” she says. “It’s good for parents to be able to share their stories and connect with each other.”
A decade ago, Lori’s son, Christopher, was a seemingly healthy 2-month-old when a routine well-baby visit revealed what his pediatrician thought might be a heart murmur. Testing by a pediatric cardiologist near their home in upstate New York found that the little boy’s heart was fine. “I was relieved,” remembers Lori. Then the doctor checked his blood pressure. It was 160/90 — far higher than what’s normal for a child his age.
A rare diagnosis
The family packed their bags and headed to Albany for more extensive testing. But even as Lori held Christopher in her arms, his blood pressure continued to soar to 200/100. A nurse rushed him to the intensive care unit (ICU). He remained there for a week while clinicians stabilized him, and eventually discovered that his aorta — the body’s largest blood vessel — was unusually narrow in some areas. “The doctors had never seen this before,” says Lori. “They recommended that we come to Boston Children’s Hospital, where clinicians might be more familiar with it.”
Indeed, their first physician in Boston, pediatric surgeon Dr. Christopher Weldon, had seen similar anomalies in his patients with midaortic syndrome, in which the part of the aorta (that runs through the chest and abdomen) is narrow, leading to dangerously high blood pressure and other concerns.
Baby Christopher spent another month in Boston Children’s ICU, undergoing further testing. “At first, it seemed overwhelming,” Lori admits. “I was worried, upset and couldn’t sleep — I didn’t know what would happen. But as soon as we arrived in Boston, we were surrounded by doctors and nurses. I knew he would be getting excellent care.”
Smooth sailing — and then, surgery
The first year of Christopher’s life was challenging, as his family and clinicians tried to get his blood pressure under control. But once Dr. Michael Ferguson, co-director of the Midaortic Syndrome and Renovascular Hypertension Center, and his colleagues found the right dose of medications, the next seven years were fairly smooth sailing.
Christopher also underwent two cardiac catheterizations to help open up his left renal artery and aorta, although his right renal artery was too narrowed. In late 2016, Lori got a call from Dr. Ferguson. Christopher’s latest imaging scans showed that he was experiencing renal atrophy, or shrinkage of his right kidney. It was time for surgery.
The procedure, an autotransplant, moved Christopher’s right kidney from its native location to the pelvis, which helped improve blood flow and preserve function. The surgery, performed by Dr. Heung Bae Kim and Dr. Khashayar Vakili, was a success. Christopher recovered well, and has been off all blood pressure medications for about two years.
Connections and support
Today, Christopher is learning to play violin, sings in his school’s choir and — like most kids his age — is obsessed with the video game Fortnite. He and his parents know that coping with a chronic disease isn’t always easy. “We know he’ll likely need surgery on his left kidney eventually,” says his mom. “It’s tough not knowing what the future holds, but Dr. Ferguson, Dr. Kim and the rest of his clinicians make a great team for us.”
They’ve also connected with other children with midaortic syndrome and their parents. “In the beginning, I felt really helpless and alone,” says Lori. “Now, we understand that every kid with this condition is a little different, but there’s still a great community of support.”
Learn about the Midaortic Syndrome and Renovascular Hypertension Center.