The author had never heard of this rare condition—until it hit home with the birth of her son.
By Danielle Shaw
As a medical editor for more than 10 years, I thought I had heard it all. Then my son, Jordan, was born with a rare condition I had never heard of: caudal regression syndrome (CRS). The dire prognoses began—inability to walk, incontinence, even dying before age 1. There was no learning curve as I tried to educate myself on this rare and little-researched condition. This time, I wasn’t just reading about anonymous patient in a textbook; I was learning about my own newborn baby’s condition.
CRS is a rare syndrome occurring in one in 25,000 live births (spina bifida occurs in one in 1,000). CRS occurs when the sacrum, or the lowest part of the spine, does not form fully in utero. The sacrum may be partly formed or absent altogether. The cause of CRS is little understood. It is believed to be caused by maternal diabetes in 16% of cases, leaving 84% of cases with unknown causes.
Some use the term sacral agenesis as a synonym for CRS, but sacral agenesis actually describes the part of CRS affecting the spine (agenesis means absence of or failed development of a body part). Sacral agenesis is the spinal part of the syndrome; CRS is the syndrome, or group of symptoms.
Sirenomelia, in which the legs are fused together—thus its more widely known name, mermaid syndrome—has sometimes been said to be the most severe form of CRS. However, researchers now debate whether CRS and sirenomelia are linked or are totally separate conditions.
Because the nerves to the lower extremities are affected, people with CRS usually have orthopedic issues in the lower parts of the body (caudal means at the tail end). Conditions such as clubfeet, reduced muscle mass in the legs, and paralysis may result.
CRS affects each person differently. Some people with CRS walk unaided; others use crutches or walkers; and still others use wheelchairs, either full or part time. Jordan, for example, was born with clubfeet, a dislocated knee, and dislocated hips. In an effort to correct his clubfeet, he received his first set of casts when he was only 9 days old. He has had several surgeries on his feet, knee, and legs. At age 4, he now walks with forearm crutches or a walker, and he uses AFOs (ankle foot orthoses, or leg braces)
In some cases, webbing may occur around the knees, causing the legs to be contracted and not able to be straightened. New Yorker Jahna Berry, 34, was born with both CRS and spina bifida. “For me, it means my spine ends at L1,” she says. “My legs were also crossed permanently in an Indian yoga fashion, due to webbed skin that stretched between each thigh and calf, preventing from my legs from straightening. I also had no kneecaps and no real muscles, tendons, or ligaments below the knee area, not to mention very poor circulation, though I did have sensation and was very ticklish in my feet. My parents made the very hard decision to have my legs disarticulated at the knee when I was four and a half at Shriners in Chicago.”
Bowel and Bladder
CRS also has effects on the bowel and bladder. Bowel issues may include incontinence and constipation. The Mitrofanoff for antegrade colonic enema (MACE) procedure, which enables a patient to regularly wash out the colon through a stoma, or incision, in the abdomen, may help with bowel incontinence.
“The urologic aspects of caudal regression are significant,” says T. Ernesto Figueroa, MD, chief of the Division of Pediatric Urology at Alfred I. duPont Hospital for Children. “The ability of the bladder to perform its functions, namely to store urine at low pressures and empty the bladder at will, can be compromised. The development of the kidneys can also be compromised. Some patients may be able to store some urine but may also leak . . . . The majority of patients have a small bladder and incontinence and may require surgical correction to enlarge the bladder and to help the bladder empty via intermittent catheterization.” Dr. Figueroa continues, “Accurate assessment of the bladder capacity and storage pressure, and outlet resistance and competence, are important to determine what to do for the patient. In cases where storage pressure may be elevated, intervention is necessary to prevent any damage to the kidneys due to obstruction, reflux, or urinary tract infections. In cases where the outlet resistance is poor, patients may need intervention to correct the urinary incontinence and allow them to be dry.”
Social Concerns and Educating Others
Wendy Tilyard, 34, a teacher from Adelaide, South Australia, was also born with CRS. She walks with forearm crutches and uses a wheelchair for longer distances.
“I have always had to contend with incontinence,” she says, “which made things a lot harder when it came to spending nights at friends’ places or going on school camps, but those problems were always overcome. I had a terrible time at school in my early years because the kids just didn’t understand, and I honestly don’t know if there was ever a conversation with them about why I did the things I did.”
To avoid this kind of confusion with her students, she tries to educate them about CRS. “Within the first 6 weeks of being in a new class, I take my chair and a spare pair of sticks [forearm crutches] into the class to show the kids. I do a disability awareness lesson and let them have a go at both. I find this cuts down on a lot of questions, but it also gives the kids a better understanding of what using these things means.”
She says the main way CRS has affected her life is that she can’t run or ride a bike, two things she’s always wanted to do. “That may sound strange, mind you,” she adds.
CRS is not a degenerative condition, although effects such as scoliosis and tethered spinal cord may occur. People with CRS can live long and healthy lives as long as their spinal, bowel, and bladder issues are a focus. “The urologist needs to be closely involved in the evaluation and management of patients with caudal regression,” says Dr. Figueroa. “Once a stable urinary tract is created—low storage pressures and predictable intermittent emptying of the bladder—the outlook of these patients is good.”
Several well-known athletes have the condition, including Australian Kurt Fearnley, who is a Paralympian gold medalist in wheelchair racing and winner of numerous marathons, including the wheelchair division of the 2006, 2007, and 2008 New York City Marathon. Tyler Walker, another athlete with CRS, had his legs amputated above the knees at age 4 and is a mono skier who won the World Championship for Downhill this year at the World Cup Finals.
But most of all, people with CRS are just normal people living regular lives. “I just get up every day and do what needs to be done in whatever fashion I can get it done,” Jahna says. That is what I hope the most for my son.
Early in Jordan’s life, as doctors piled on dire prognosis after dire prognosis, I began to notice something—he was just a kid like any other kid and would do things in his own time.
A few months before his second birthday, after months in casts and several surgeries on his legs and feet, he began walking with a walker. Not even two months later, he was a ringbearer at a wedding, hurrying down the long aisle by himself, not even accompanied by a flower girl, with the white satin ring pillow attached to his walker. “Hi, everyone!” he shouted as he started down the aisle.
The other ringbearer could walk without assistance but was carried by his mother because he was crying. But there my boy was, happy and strong in his mini tuxedo while doing two things most people take for granted—getting around independently and simply living.
Danielle Shaw is a freelance editor and writer from Norristown, Pennsylvania.