Colton Liam Edwin Cox is a big name for a little 4-year-old guy. His short stature stems from a rare genetic condition that makes his bones shorter than normal. Colton has achondroplasia, which affects about 1 in 25,000 newborns.
“Having achondroplasia is kind of like the body applying an unwanted parking brake to the bones that are trying to grow,” said Dr. Janet Legare, a UW Health Kids pediatrician in genetics who directs the Midwest Regional Bone Dysplasia Clinic at UW-Madison’s Waisman Center. “While kids like Colton require care from highly trained medical experts, he is fortunate to have an incredibly engaged, supportive family. Although achondroplasia affects his bones, it doesn’t affect his mind, his drive or his willpower. There are no limits on what he can do.”
The outlook for Colton was not always so promising. Even while Amber was pregnant, signs of abnormal bone growth began appearing on her ultrasounds. A neonatal nurse practitioner herself, at a children’s hospital 500 miles from Madison, Amber felt haunted by the “nurse curse” of knowing too much about potential complications with her baby. On top of this, merely getting pregnant took some time, as Amber and her husband Dennis ultimately sought the help of in vitro fertilization (IVF), which was successful.
Colton almost didn’t survive mom’s pregnancy
At 27 weeks into pregnancy, Amber thought she lost her baby in utero from an unrelated complication that forced her to stay on bed rest for four weeks. At 31 weeks, the complication intensified, forcing doctors to deliver Colton by emergency Caesarean section. He was immediately taken to the neonatal intensive care unit (NICU), where he would stay for four months.
“Like many preemies,” Amber said, “Colton was small, but his arms and legs were tiny, even for a preemie. With my medical knowledge, I saw things that were worrisome, like a prominent forehead and unusual breathing patterns. Nobody could tell me exactly what was wrong, but I knew something was wrong. My ‘mom gut’ kept telling me to speak up, and I’m thankful I did.”
Eventually, genetics experts at Amber’s local hospital concluded that he had a form of dwarfism. Amber knew enough to suspect achondroplasia, and her hunch would prove correct.
Colton was surviving, but there were still many unanswered questions during the four months he and Amber spent in the NICU. Fortunately, another mother put Amber in touch with Dr. Legare, one of the nation’s preeminent achondroplasia experts and part of the UW Health Kids network of care.
“Dr. Legare was a godsend,” Amber said. “There are about 10 pediatricians in the country as well-versed in achondroplasia as she is. Connecting with her began to provide answers and hope.”
Not long after that conversation, Amber, Dennis and Colton flew to Madison to see Dr. Legare and her partner in the Bone Dysplasia Clinic, Dr. Andy Stadler, a UW Health Kids neurosurgeon with extensive experience operating on children with genetic bone abnormalities.
It felt like Colton was in good hands
Relief began to ensue, as Amber knew that she and her baby were in the right hands.
“There are only a handful of comprehensive pediatric bone dysplasia programs in the country,” said Dr. Legare, “and most of them are on the coasts. These are rare abnormalities, but fortunately they are not rare to Dr. Stadler, me or our UW Health colleagues in orthopedics, ENT, neuropsychology and sleep medicine.”
As Colton approached his first birthday, it became clear that he would need a unique form of skull surgery with which very few pediatric neurosurgeons are highly experienced, like Dr. Stadler.
“Some kids with achondroplasia, including Colton, experience compression between the brain stem and the oval-shaped opening at the base of the skull,” said Dr. Stadler. “His arms and legs had trouble growing, and so did the base of his skull, leaving too small of an opening where the spinal cord turns into the brain stem. Left untreated, the situation could be life-threatening.”
In November 2018, Colton and his family returned to American Family Children’s Hospital, where Dr. Stadler took Colton to the operating room, removing small sections of his skull at the back of the neck to create more space around the spinal cord and brain stem.
An explosive growth in development
“Colton recovered very nicely and has had an explosive growth in development since then,” said Dr. Stadler.
“It really was a night-and-day change,” said Amber. “Before the surgery, he couldn’t hold his head up or pick his head up off the floor. After a few months, he was doing so much better. He truly was like a new kid.”
Some expected delays – such as not walking until age 2½ – followed, but today at age 4, Colton is an incredibly happy, social, smart little boy who loves preschool.
“It might take him a little longer to get from Point A to Point B,” Amber said, “or he might need a chair or stool to reach what he wants. Still, we could not be more thankful to have him in our life, especially knowing how close we were to losing him.”
Colton is quite artistic. He draws, paints and crafts to his heart’s content. While out and about, he charms the ladies who are drawn to his smiling face.
For Dr. Legare, Dr. Stadler and the other caregivers on their bone dysplasia team, Colton is just one of many children that brings them incredible pleasure. Children from more than a dozen states and even overseas have been treated at this clinic.
“We wish the more distant families like Colton’s didn’t have to travel so far, but thanks to telemedicine, we are able to conduct many appointments over video. The overall goal of our care is for children like Colton to live a rich full life and reach their optimal potential,” said Dr. Legare.