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Since she was a little girl, Susan Cowles had good reason to suspect that her knees may one day need medical attention. She was grateful for seven pain-free decades, but by her early 70s, a knee replacement became imminent.

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Now 74, Susan was born with an extremely rare skeletal abnormality known as Schmid Metaphyseal Chondrodysplasia. It is typically characterized by short stature and a waddling gait.

As a child, Susan and her parents frequently traveled to Madison so she could receive care from UW specialists. While she built a life and career in medical social work in Milwaukee, Susan returned to Madison for care once again as an adult more than six decades later.

Aside from her 4’5” stature and short, bowed legs, little else has gotten in Susan’s way. Once she reached her early 70s, however, Susan began experiencing serious knee arthritis.

“Genu Varum or ‘bowed legs’ is a common deformity with patients who have Schmid Metaphyseal Chondrodysplasia,” says Dr. Brian Nickel, Susan’s UW Health orthopedic surgeon. “Because Susan’s legs were not straight, extra pressure continued to mount, especially on the inside of her right knee,” he adds. “Her resiliency allowed her knees to last until her early 70s before the pain got bad enough on her right side to make her a candidate for a total knee replacement.”

Dr. Nickel, whose training included a fellowship at the #1 ranked Hospital for Special Surgery in New York City, has performed thousands of knee and hip replacements throughout his six years at UW Health. Susan’s case, he says, required far more preparation and planning than a more conventional patient would need.

Dr. Nickel’s most challenging knee surgery

“Every step of Susan’s surgery was different because of her short stature,” Dr. Nickel says. “This was the most challenging surgery I have done on a first-time knee replacement patient. At UW Health, one of the advantages for patients like Susan is that our team has frequent experience with complex cases. Not only do we provide the highest ranked care in the state for orthopedic surgery, but we also know how to deal with the so-called curve balls. This makes it all the more fulfilling to help patients like Susan get back to living a better life.”

Now with her surgery several months behind her, Susan is back to walking a mile every day supplemented with plenty of yoga stretching. She is incredibly pleased with her outcome.

Making Susan’s story even more compelling is the amount of time since she first traveled to Madison for care. Some 65 years ago, Susan’s parents were having a hard time getting answers about their daughter’s short stature.

“I was misdiagnosed twice as a child, leaving my parents stumped and discouraged,” Susan says. “Finally when I was about 9, our family doctor arranged for me to see a pediatric specialist at UW-Madison named David W. Smith.”

Dr. David Smith joined the UW faculty not long after the creation of the Department of Pediatrics in 1957. Although he would leave Madison within a decade, Dr. Smith would come to be known as a pioneer in the field of dysmorphology — the study of birth defects including growth abnormalities such as Susan’s.

Falling in love with Madison from an early age

“I just loved coming to Madison with my parents,” Susan says. “We would always make a day of it and spend time exploring the university campus. I remember thinking how much I wanted to go to college there, but coming from a strong Catholic family, my parents preferred that I go to a Catholic university in Milwaukee. I never lost my love for Madison, however.”

While being seen by Dr. Smith and a young doctor-in-training named Arlan Rosenbloom, Susan joined a trailblazing medical study that would lead to the establishment of Schmid Metaphyseal Chondrodysplasia as a unique form of inherited dwarfism. Because the field of genetics was in its infancy in the 1960s, Dr. Smith’s study, published in the Journal of Pediatrics in 1965, would later emerge as a seminal piece of clinical research.

“Dr. Smith and I drove across Wisconsin meeting with about two dozen children like Susan and their families,” recalls, Dr. Rosenbloom, the 89-year-old nationally distinguished expert in growth abnormalities. “We learned that the cells at the end of the shorter bones in these kids were disorganized, which disrupted the normal growth process.”

Fast forward to 2022, when the pain in Susan’s right knee was making life difficult.

“An orthopedic surgeon in Milwaukee asked me to have DNA testing to confirm that I truly had the Schmid form of metaphyseal dysplasia,” Susan says. “I started by calling a local genetics department but nobody called me back for two weeks. So I Googled the Genetics Department at UW. A genetics counselor named Peggy Modaff answered her phone directly and listened to my story.”

UW genetics counselor connected Susan with Dr. Nickel

Not only did Peggy send Susan the DNA test kit right away — the test confirmed Susan’s original Schmid diagnosis — but later Peggy provided Susan with recommendations for UW Health orthopedic surgeons.

“Peggy sent me the names of two UW orthopedic surgeons and one of those was Dr. Brian Nickel,” Susan says. “That’s how I first connected with him, so thanks to Peggy and her fast response, I was on my way.”

Peggy’s immediate willingness to listen to Susan’s phone call and then act swiftly left Susan extremely impressed.

“So many people say they’ll get back to you and never do,” Susan says. “Peggy was absolutely fabulous.”

Loving life and feeling free from debilitating knee pain, Susan is amazed at her good fortune, especially with two UW Health encounters spanning more than six decades.

“Everything good to me happens at UW,” she says.

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This story originally appeared on uwhealth.org.