If you met Ahmed al-Fardan today, walking with the aid of crutches, you might mistake him for a student athlete recovering from an injury. The talkative 16-year-old recently started college courses at Middlesex Community College, where he’s thinking of starting a pre-med program.
And when he’s not in class, his mother Ameera often finds him reading or writing short stories. She says it’s already getting hard to believe that only two years ago, her son was all but confined to a wheelchair.
That’s because Ahmed is a lifelong member of one of the world’s most exclusive clubs—he is one of as few as 26 people worldwide to be born with the genetic disorder Catel-Manzke Syndrome.
Among other signs, Catel-Manzke Syndrome usually causes cleft palate, irregular bone formations in the index fingers, an undersized jaw and—in Ahmed’s case at least—a lack of bone ligaments in specific areas of the body. Until 2012, Ahmed received care at Shriners Hospital for Children in Portland, Ore., where his mother had relocated from the United Arab Emirates to study.
While his care team at Shriners was able to repair his cleft palette and undersized jaw, it struggled to treat his legs when abnormal bone growth gradually robbed him of his ability to walk for more than a few steps at a time. A string of visits to other local physicians were not any more helpful, but one doctor knew just the place to call—Boston Children’s Hospital, which specializes in genetic conditions affecting ligaments.
“His case was very complicated. Outside of our team, not a lot of people have experience with knee instability in cases like this, where there’s congenitally absent anterior cruciate ligaments,” Boston Children’s Mininder Kocher, MD, MPH says.
Complicated is the right word. Since both his femur and his tibia were growing unevenly, Ahmed was not only knock-kneed but also started to chronically dislocate his tibia whenever he walked. That’s because the top of his tibias—which are normally flat—sloped backwards and, without ligaments to keep it in place, would pop out of place whenever he straightened his legs.
Worse yet, Ahmed was beginning to develop arthritis on the backs of his knees and the front of his femurs would rub against the backs of his tibias every time his tibias dislocated. By the time he and his family arrived in Boston, Ahmed had to walk on the tips of his toes to avoid fully extending his legs and even then, was only able to manage a few steps at a time.
As part of Boston Children’s Sports Medicine team Kocher is no stranger to ACL surgeries, but he had never seen a case quite like Ahmed’s. “The syndrome is incredibly rare,” he says, “but the additional problem that he had in his knees was rare as well.”
To get Ahmed back on his feet, Kocher worked with Boston Children’s Chief of Orthopedic Surgery James Kasser, MD on a series of three surgeries. The first operation, performed by Kasser, involved securing a plate to the inside of Ahmed’s femurs with two screws to slow its growth on one side. In a second operation, Kasser placed screws across the front of the tibias, again slowing growth on one side in order to correct the bone’s irregular slope. A year later, in August 2013, Ahmed returned to Boston Children’s for a final operation by Kocher.
Using donated allograft tissue—allograft tissue is stiffer and less likely to stretch over time than tissue in patients like Ahmed—Kocher and his team drilled holes in the tibia and femur bone, and then passed new tissue through those holes to form the ACL.
The surgery was a success. These days, Ahmed is regaining his ability to walk with the use of crutches and regularly sees a physical therapist at Boston Children’s in its Lexington, Mass., location. It’s not clear yet whether he’ll need to return for another operation. “We’ve had kids 15 years out from ACL reconstructions and they’re doing well, but this is a complicated situation,” Kocher says. For now, at least, Ahmed’s happy to be getting back on his feet.
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The embassy of the United Arab Emirates supported Ahmed and Ameera in traveling to Boston for treatment.