The prognosis was reassuring, but many challenges still lay ahead. In addition to imperforate anus, Evlyn was born with tethered cord syndrome. A healthy spinal cord floats freely in a long sac of fluid from the head to the tailbone, with nerves coming off of it like strings. In contrast, a tethered spinal cord is attached to tissue, most commonly fat, at the base of the spine.
In Evlyn's case, the lipoma and dimple previously identified on her back were external markers of additional internal fat that stuck her spinal cord to her tailbone. In such situations, the cord gets stretched out as the child grows. This can damage the cord itself and the nerves that control the bowel, bladder, legs, and feet.
A neurosurgeon typically recommends detethering (detaching) the spinal cord from where it is stuck in cases like Evlyn’s. This allows the cord to develop normally. But Dr. Duhaime, who has 3 decades of clinical experience, knew she first needed to answer a critical question.
"The combination of imperforate anus, her particular type of tethered cord, and deformation in the bones of her lower spine and sacrum was a tipoff that Evlyn might have a rare genetic syndrome known as Currarino triad," she says. "And I knew that children with Currarino triad have a higher risk of sacrococcygeal teratoma, a type of tumor that can turn malignant and become fatal if you don't remove it right away."
Dr. Duhaime's first priority, then, was to rule out a sacrococcygeal teratoma. A few weeks after the initial evaluation, Evlyn and her parents returned to Mass General for Children for more testing.
Following a highly specialized type of magnetic resonance imaging (MRI), along with a genetics evaluation, the care team concluded that Evlyn did not have the tumor in question. (An MRI uses a large magnet and electromagnetic waves to look at organs and structures inside the body.)
This good news cleared the way for Evlyn to undergo tethered cord release surgery at 4 months of age. The procedure involves detaching the spinal cord from the tissue that is preventing it from moving freely. Dr. Duhaime reported that Evlyn's was a relatively simple case to address. However, the post-surgical care required attention to detail to ensure the best outcome.
"It was really important that we did certain things during diaper changes to protect the incision and avoid the risk of infection," Hunter says. "Dr. Duhaime stressed that if we had any concerns, don't hesitate to call her. We had to do that a few times, and she was always calm and helpful. It was nice being able to rely on someone who had done the surgery and could walk us through what to do."
In the ensuing months, Evlyn underwent more advanced genetic testing to determine whether she had Currarino triad. Dr. Duhaime praised clinical geneticist and pediatrician Paula Goldenberg, MD, MSW, MSCE, of the Pediatric Genetics Division for helping to unravel the mystery.
"Our geneticists are wonderful to work with. They're just as much into being detectives on behalf of our patients as I am," she says. "And they appreciate that learning your child has a genetic problem can be really frightening. So in addition to giving the right information, they work with other doctors and genetic counselors to help parents deal with the emotions of having a child with a genetic syndrome."
A little before her first birthday, Evlyn was diagnosed with Currarino triad. The syndrome does not affect life expectancy and usually does not cause developmental delays. However, if Evlyn chooses to have children, she would have a 50/50 chance of passing on the gene. The same odds would apply to her parents.
Evlyn will continue to be followed at her local hospital by the team that performed her surgery for imperforate anus. The family will also travel to Mass General for Children on occasion to see pediatric specialists in neurosurgery, orthopedics, urology and genetics. The Pediatric Coordinated Care Clinic, which serves families of children with medically complex health care needs, strives to make the visits as efficient as possible.
Evlyn, who will turn 3 in October, is doing great, according to her parents. "Looking at her, there's no limp—you'd really never know there's anything going on with her," Hunter says.
"She's very smart and has great verbal communication for her age," Jessica adds. "She loves to dance and do gymnastics, and she's excelling at potty training. That's so rewarding because when she was born, we didn't know if she'd be able to do any of those things."
For her part, Dr. Duhaime says caring for Evlyn and her parents has been a pleasure.
"It's a joy to have a family like Evlyn's, who are willing to become a partner in their child's care," Dr. Duhaime says. "And for me, it's very gratifying to know that you checked all the boxes, didn't miss anything, got the child what they needed and helped launch them into a happy childhood."