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Patients in the Spotlight: Josie and Juliana LaDuke

A Doctor and Family Join Forces to Fix Two Sisters’ Legs

LaDuke Family with Dr. SandersMarlene LaDuke knew there was a new doctor in town even before a recommendation was made. James O. Sanders, M.D., professor of Pediatric Orthopaedics at the University of Rochester Medical Center’s Golisano Children’s Hospital arrived two years ago, amidst quite a buzz. As an administrative assistant at the pediatric residency program, Marlene had heard all about Sanders from the pediatric residents in her program, who excitedly talked about his reputation for being very knowledgeable teacher to both parents and patients.

“Dr. Sanders is very big on teaching parents about their child’s condition and what possibilities there are for treatment. He wants to make sure you understand at whatever level of medical knowledge you have,” said Marlene.

The family’s first meeting with Sanders was surprising, to say the least. As a complete fluke, the whole family came to the first appointment Marlene had set up for Juliana, now 2 years old. Sanders took one look at Marlene’s husband Chad and the two girls, Josie and Juliana, and kindly said he thought he knew what condition they might have. Before the first x-ray or any genetic testing, Sanders was, and remains, quite confident that Josie, Juliana and their father Chad had bowed legs, meaning the femur and tibia curved outward, and a form of skeletal dysplasia called multiple epiphyseal dysplasia (MED). MED is characterized by malformed knees, feet, and hands, scoliosis, and joint pain that is usually in the hips or knees.

Since there is no cure for MED and treatment earlier on produces more positive results, Sanders suggested treating Josie right away. Sanders put KFO (knee-foot orthosis) braces on last summer, when Josie was 18 months old. He explained that younger children’s bowed legs tend to be more easily correctable because their bones are still very pliant. Since Josie was a bit older than the optimal age to begin this kind of treatment, Sanders recommended that she wear the KFO braces 24 hours a day. They were only to come off for bathing. Because Sanders had taken the time to work through the family’s questions and concerns, the LaDuke family understood exactly why Josie needed the treatment she did.

After three or four months, Josie’s legs were still bowed outwards and her bones had not moved at all. Sanders suggested another course of treatment – Taylor Spatial Frames, external fixators used to correct bone deformities. On Oct. 7, 2008, Sanders put on the two rings that went around each of Josie’s legs and six vertical struts that could be adjusted to slowly move her bones. The rings connect to bones in the leg by wires or half pins. Chad and Marlene adjusted these according to calculated numbers Sanders gave them, so that little by little, the bones in Josie’s legs moved inward and her legs became less bowed.

Josie’s deformities were corrected in three to four weeks, as is typically the case with the frames, and the braces were left on to allow her bones to heal. Unfortunately, while Josie’s bones were healing, she developed an infection so on Dec. 22, the frames were removed and replaced with full-leg casts. When Sanders checked her legs two weeks later, he found that Josie’s right leg had healed but her left leg had not.

After two more months with a long-leg cast on Josie’s left leg, x-rays revealed that the bones had still not healed. In early March, Sanders decided to do a bone marrow aspirate, a procedure in which bone marrow is extracted from the hip and injected into the break site to help with healing. Sanders then put a custom brace on Josie’s left leg so it could continue to heal.

In mid-March, Sanders found that Josie had a vitamin D deficiency, which may have contributed to the delay in healing of her left leg. Sanders recommended vitamin D supplements to strengthen her bones.

Treating the Child, not the Disease

As every parent knows, all children are different. From that first appointment, Sanders recognized that Juliana’s treatment might be different than Josie’s. Sanders decided to give the family a less expensive option for Juliana’s braces, since he didn’t want to bill them unnecessary expenses, explained Marlene. However, Juliana would not tolerate her first set of braces.

Juliana started out wearing A-frame braces at night but the 18 month old found them to be very restrictive and difficult to sleep in. She was not able to sleep more than four hours a night. Due to the discomfort, Sanders fitted Juliana with KFO braces to be worn at night. After nine long months, Sanders found no change in her condition.

In April 2009, Sanders sat down with the LaDuke family to discuss the best way to treat Juliana. Juliana had a more defined case of bowed legs, walking on the sides of her feet instead of flat-footed. She was also much more verbal about her pain than Josie had been, who was more apt to “plow through anything,” according to her mother.

Together, Sanders and the family discussed their options. Taylor Spatial Frames worked for Josie, but Juliana was a different child with a different tolerance level than her older sister, and Sanders recognized this as much as Juliana’s parents did.
“Really, when it comes down to it, Dr. Sanders treats the child, not the disease. He can’t alter every single variable, but he absolutely tailors his treatment of each patient based on their own distinct personalities,” said Marlene. 

Sanders suggested that he could do the majority of the correction in the operating room when he put the frames on, rather than asking the family to adjust the braces a little bit every day, as they done had with Josie. After discussing some possibilities for treatment, Sanders told the family to take as much time as they needed to think about their options.

The LaDukes ultimately decided to have Sanders go ahead and do majority of the correction on the day of surgery. They scheduled the four-and-a-half hour surgery for May 19. Added together, the girls had seen Sanders more than 30 times over the past year – sometimes with multiple visits in the same week. Once Juliana’s braces come off, the family is hopeful that appointments with Sanders will be limited to just a couple times a year until puberty. The girls will have to be monitored more closely as they mature through puberty, as growth plates move a lot during that time period, and there is 20 percent chance the girls’ legs will need to be corrected again.

Looking Towards the Future

It is still not clear exactly what genetic disorder the LaDuke toddlers have. While Sanders treats the girls, Chin-To Fong, M.D. associate professor of Pediatric Genetics Department at Golisano Children’s Hospital, works on identifying their exact diagnoses.

As Juliana went into surgery in May, her father went to the Radiology Department at Strong for a full skeletal survey ordered by Fong. Fong then sent the genetics information, along with the skeletal survey, to a registry in California, where a genetic analysis will determine definitively whether Chad, and consequently his daughters as well, have MED.

“The girls’ operations were inevitable: now it’s just a question of putting a name on their disorder,” said Marlene. Very specific research is taking place in the field of genetics, so knowing exactly what the girls have can help if the family decides to follow or take part in any research studies. While there is not a cure, the LaDukes are hopeful that in 25 to 30 years, when the girls are ready to have children, there may be a way to alter the gene mutation. “We are hopeful that science will catch up with them,” their mother said.