Battling Blount’s
Mckenzie Upton reaches for one of her favorite dolls, Sophia, as her mother, Charlotte, and little brother, Brian Jr., look on. The 2½-year-old Dawson girl was diagnosed with Blount’s disease, a rare condition that causes bowleggedness and can lead to disabling complications if left untreated. In the photo below,
Brian Upton, holding 1-year-old Brian Jr., discusses the treatments that his daughter Mckenzie will require for Blount’s disease, as the girl sits in the arms of her mother, Charlotte, last week in their Dawson home.
Mckenzie Upton gestures to her mother while holding a doll. The 2½-year-old Dawson girl was diagnosed with Blount’s disease, a rare condition that causes bowleggedness and can lead to disabling complications if left untreated.
Dr. Jan Grudziak, a pediatric orthopedic specialist at Children’s Hospital of Pittsburgh
Mckenzie Upton bounds through her Dawson home, her blond pigtails flapping as she ventures into her bedroom to retrieve Sophia. Doll in hand, Mckenzie traverses the carpeted floor with ease and gleefully plops down to listen to Sophia’s serenade. On other days, it’s all about Disney’s Frozen–or “Let It Go,” as Mckenzie calls it.
Mckenzie jumps, bounces, climbs, tussles a bit with her little brother, 1-year-old Brian Jr., and does everything any rambunctious 2½-year-old girl would do. She seemingly pays no mind to her severely bowed legs or the concerns of her protective parents, Brian and Charlotte Upton. She has no idea that she has Blount’s disease–or even what it is–and what it’ll require of her in the next few years.
But by nightfall, the pain sets in, a byproduct of her daytime rambunctiousness. When evening comes, “This is her friend,” her father says, holding a bottle of Children’s Tylenol, not Sophia.
“She has a lot of pain at night, just from walking all day. The pain gets to her,” Charlotte says. “She’ll actually climb in bed with me and say, ‘Mommy, leggies,’ and rub her legs because they hurt.”
The bowing of Blount’s
Nearly all babies are born with minor bowing of the legs–known as physiologic bowleggedness–due to their folded position in their mother’s womb. But once a child starts to walk, the bowed legs typically straighten out, most often between ages 1 and 2. Such was the case with Mckenzie’s twin sister, Makayla, and her 6-year-old sister, Kimberly.
But when Mckenzie began walking a year ago, her legs remained bowed, prompting her parents to seek answers. Her pediatrician simply advised the Uptons to keep an eye on the toddler and see how she grew.
Nearly four weeks ago, Mckenzie was jumping on the bed and landed on her knees. Her legs pained her through the next day, so the Uptons once again took Mckenzie to the pediatrician, who recommended X-rays.
The X-ray findings prompted the couple to take their daughter to see pediatric orthopedic specialist Dr. Jan Grudziak, medical director of children’s sports medicine at Children’s Hospital of Pittsburgh. On Feb. 5, McKenzie was diagnosed with tibia vara, or Blount’s disease.
The condition is relatively rare: Grudziak notes that he and his colleagues at Children’s Hospital see, on average, only about 10 to 15 Blount’s cases a year.
The disorder occurs as a result of abnormal growth of the shin bone, or tibia. In children who are growing, a growth plate atop the tibia allows the bone to lengthen and grow naturally. In children with Blount’s disease, the inner part of the tibia, just below the knee, is compressed and may stop growing, while the outer section continues to grow naturally. As the tibia grows unevenly, it creates the hallmark bowleggedness of Blount’s disease.
In the majority of cases, Blount’s affects both legs, and some children with the disease develop in-toeing, in which the legs and feet abnormally rotate inward instead of straight ahead. In some children, one leg may be shorter than the other, making walking unstable. And in some, but not all, children with Blount’s, pain accompanies the abnormal tibial growth.
“The majority of kids Mckenzie’s age present with bowleggedness without any damage to the growth plate–99 percent just grow out of it. If you look at an X-ray and the growth plate is looking good, then there’s a pretty good chance that they’ll just grow out of it and not require treatment,” Grudziak explains. “The difference is the growth plate, so when you look at an X-ray of a Blount’s patient, you see the changes in the growth plate.”
Blount’s most often affects infants, but adolescents may develop late-onset Blount’s, although the bowlegged deformity is usually less pronounced in these instances.
Blount’s is largely unpreventable. The exact cause of the disorder remains unclear, although many experts believe that genetics and family history may play a role. Blount’s affects girls more than boys, and its prevalence is higher in African-Americans, children who are overweight for their age, and kids who start walking early.
Surprisingly, Mckenzie, a normal-weight Caucasian girl who didn’t start walking until she was nearly 15 months old, is the exception to the rule and, aside from her female gender, has none of the common Blount’s risk factors. She does, however, have a family history of the disease: Her father’s aunt had Blount’s.
“She’s in her 30s now,” Brian says about his aunt, “and you can’t even tell she had a problem.”
Besides its effects on the legs, Blount’s does not cause any other medical problems, and Mckenzie and other children with the disease are otherwise generally healthy.
But if not corrected, Blount’s will progress, with debilitating consequences. As the bowleggedness of Blount’s worsens, more strain is placed on the knee, particularly the medial compartment (inside part) of the joint, Grudziak says.
“As you get into very severe bowleggedness, then you are courting arthritis pain at an early age,” he adds. “With severe bowleggedness, you have a very high risk of arthritis in the late teens and early 20s.”
Charlotte recalls the day she and her family first learned of Blount’s disease, the day of Mckenzie’s diagnosis. “My heart just felt for her. Once I actually read up on Blount’s and realized what could be happening, I knew that if she didn’t get treated, she could be disabled for the rest of her life,” Charlotte says. “She’s very active, and it would kill us not to see her up and running around and playing.”
A rough road ahead
In her 2½ years in this world, Mckenzie has already had her fill of medical maladies. She was born with torticollis, a common problem in which the neck muscles cause the head to rotate to the side. As a result, she developed a flattened head, which required her to wear a custom-molded helmet to correct and redirect the growth of her skull.
And now she faces a series of treatments in the coming years to counter the effects of Blount’s disease and correct the abnormal growth of her legs.
She recently was fitted for orthotic braces, which extend from the thigh to the feet. The braces are designed to gradually correct the bowing and direct the growth of her legs toward a more natural, straight position. Grudziak plans to X-ray Mckenzie’s legs with the braces on and then again four to six months later, to gauge how well the treatment is working.
“I told the family from the get-go that the success rate with bracing is quite low and that her case is quite severe,” Grudziak says.
So, Mckenzie will most likely require surgical correction of her Blount’s disease. The operation entails cutting the tibia to correct the alignment of the bone and eliminate the bowleggedness; however, as Mckenzie’s bones continue to grow, so will the abnormal growth of her tibia. Consequently, to fully correct her Blount’s disease, she’ll probably need multiple surgeries, performed about two to four years apart, before she’s fully grown, Grudziak explains.
“We’ll go step by step and see how she does,” he says. “At least we know that we can cure this problem at some point. The recovery from each surgery usually takes about four or five months, but the ultimate results are usually pretty good.”
Like Mckenzie, Brian, 27, and Charlotte, 26, have endured much in their six years of marriage. Kimberly had colic, twins Mckenzie and Makayla were born six weeks premature, and Brian Jr. was born with a clubfoot. “And now Mckenzie with her legs,” Charlotte says, “we’ve just had a lot thrown at us since we had kids.”
“We’ve been through a lot,” Brian adds, “And there’s a lot more to go.”
As they await the difficult road ahead for Mckenzie, Charlotte and Brian are trying to raise awareness about Blount’s disease and other pediatric leg disorders by having T-shirts and awareness ribbons printed. They’ve also started a Facebook page to inform viewers about the disease and Mckenzie’s progress.
They revel in watching their daughter scurry around the house, fearlessly climbing just about anything. “I’ve always said she’s going to be my wrestler, my basketball player,” Charlotte observes. “She’s the brute.”
And despite the trials Mckenzie will face in the next few years, her parents and her doctor are confident that “the brute” is strong enough to emerge unhindered by her battle against Blount’s disease and able to function like any other child.
“She’ll be fine down the line,” Grudziak says. “She might go through a rough time, no question about it. But we take care of these types of conditions all the time. We are more than prepared to take care of her at any given time.”
Blount’s disease: When to be concerned
Nearly everyone is born with some degree of bowleggedness. The vast majority of infants grow out of this physiologic bowleggedness within two or three years and never require treatment, says Dr. Jay Grudziak, a pediatric orthopedic specialist at Children’s Hospital of Pittsburgh.
But if the bowleggedness persists, Blount’s may be to blame. If you’re concerned about your baby’s leg alignment, Grudziak recommends taking a photo or video of your baby’s legs every six or nine months and comparing those images. “If you have a child past age 2 and he or she is not getting better in terms of their leg alignment, that’s something you really have to look into,” he advises.
The prognosis is good for children with Blount’s disease, as long as it’s detected and treated appropriately, Grudziak says.
“Keep in mind that this kind of condition is fixable,” he says. “Orthopedics is not about saving lives. It’s about saving lifestyle. It might require some effort and special treatment, but down the line the majority of kids with an orthopedic condition will be able to participate in normal activities, like sports and everything else.”