This is the first installment in a special CommonHealth/WBUR series, The Life of Riley: A Rare Girl, A Rare Disease. It’s the story of a remarkable nine-year-old girl born with a one-in-a-million disease that creates increasingly aggressive “lumps and bumps” on and in her body. The only treatment, so far, has been surgery. But right now, at Children’s Hospital Boston, Riley is trying an experimental drug that may—or may not—help her.
In the coming weeks, we’ll get to know Riley and her family. We’ll also meet her medical team, who will guide us through the ongoing research into diagnosis and treatment of a disease like Riley’s. And we’ll find out whether she can continue with her drug trial or her latest symptoms will disqualify her.
She’s nine years old and lives in a cozy gray house by the blueberry plains of Kennebunk, Maine, with her parents and brother, a dog, three cats and four backyard chickens that give her family fresh eggs for breakfast. Of the cats, big fat old fluffy Mongoose, whose color Riley likens to a perfectly roasted marshmallow, is her most loyal snuggler when she’s hurting.
She reads, ripping through library books at a clip of one or two a day. She likes to dance and sing and swim and create art. Life, she says, is “sometimes difficult, but it’s also fun.”
“Sometimes difficult” is a modest description of the epic medical ordeal she has endured. RIley Cerabona was born with an incurable syndrome that makes what she calls lumps and bumps — and what doctors call malformations — grow on and in her body.
Some swelled visibly. When Riley was born, a grapefruit-sized pouch of lymphatic fluid made her right side look like it bore a linebacker’s padding; when she was two, a three-pound fatty tumor made her toddler’s torso look impossibly pregnant.
Others, the dangerous kind, grew inside her spine, tangled nests of blood vessels that caused partial paralysis and could have killed her.
It wasn’t until 2008 that medical specialists first devised an official diagnosis and a name for her mysterious constellation of symptoms: CLOVES, for “Congenital, Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies.” The number of people diagnosed with it since totals perhaps 100 worldwide.
If you’re aware that bodies can go awry in this way, chances are it’s from the story of The Elephant Man, a 19th-century Englishman with such severe disfigurement he was exhibited in freak shows.
Riley has a different “overgrowth syndrome,” and modern medicine has come far since then. But not far enough. All Riley’s doctors have been able to do for her growths is to cut them off or cut them out, in supremely delicate operations.
The surgery is major. So is the recovery. In preschool, Riley had to spend several weeks with a metal “halo” screwed to her skull to help her neck heal after an operation. She has had to re-learn how to walk, and “Silly,” as she calls her left arm, remains paralyzed.
Riley and her family have shown such resilience and fortitude that their doctors express awe and want them studied to spread their skills. The Cerabonas don’t pretend that the extreme parenting involved in caring for a “medically complex” child is easy. Kristen, Riley’s mother, describes one familiar feeling as “Hello, terror, come and sit with me again.” Marc, Riley’s father, used to climb into the MRI with her to soothe her.
Still, cope they have, through one medical crisis after another and the relentless demands of the day to day, even as the syndrome has progressed, making each threat to Riley’s health worse than the last.
Now, researchers at Children’s Hospital Boston are offering Riley hope of fighting back that escalation.
As part of a new clinical trial, every morning and evening she forces down an oily yellowish liquid that tastes of moldy peanut butter. A medication called sirolimus (seer-o-LI-mus), it has been found to help some people with syndromes similar to hers.
Will it help Riley? That is the long-term question. Her blood tests suggest that the doses she takes are just now getting high enough to have an effect. The more immediate issue she faces is whether she can stay on the clinical trial at all. Scans have picked up an ominous shadow on her spine. If she has a new malformation growing, that could stop her sirolimus experiment, and there are no other new treatment options on the horizon right now.
“I sometimes feel like I’m hopeful,” Riley said, “but sometimes I’m like, ‘Hmm, I wonder….’”
This Monday, Riley is scheduled for an MRI, with a decisive analysis of the results expected within the month. If it finds another spinal malformation growing, the trial could be over for her. If the news is good, she may have the chance to stay on the trial long enough to see if the sirolimus works.
WBUR will be following Riley’s progress, and with each update we’ll also explore a different aspect of her story. Today’s installment, below: The medical back-story.
Everything’s Fine — Oh, Wait, No It’s Not
Riley’s parents, Marc and Kristen, laugh when they remember the ultrasound test — a sort of incredulous, dark-tinged laughter over one of the repeating themes of their medical journey together: Again and again, they have been assured that everything was fine — and then it wasn’t.
Kristen was 18 weeks pregnant with their second child — a planned, healthy pregnancy following the easy, midwife-attended birth of their son, Cole, two years earlier. The ultrasound technician scanned Kristen’s belly, said all looked well and sent the couple home.
Later that evening, Kristen, a social worker, was cooking when a doctor called and told her, “We don’t know what’s wrong but there’s something big, like a big mass on the baby’s belly.”
Another ultrasound and further exams confirmed that the baby had a large growth, but the medical staff reassured them that it was benign. Kristen would need to give birth by C-section, she was told, and the baby would need surgery and then “live a normal life.”
When Riley was four months old, Dr. Steven J. Fishman, a surgeon at Children’s Hospital Boston, operated on her for ten hours to remove the growth, painstakingly disentangling it from her nerves and muscle. When the operation was over, Kristen recalls, the reassuring message from doctors was again that all would be well, “Go live your lives.”
It wasn’t quite so simple. When Riley was about nine months old, her parents noticed that just below where her first lump had been, something new was growing. And growing.
Just One More Thing
Yes, this sometimes happens, the doctors said. And, Marc recalls with rueful hindsight, “That was still at the point where we were thinking, ‘Okay, this is just one more thing and then everything will be done.’”
So Dr. Fishman removed that growth, three pounds of a fatty “lipoma” off a 25-pound little girl. And all was indeed well for a while. It seemed Riley was finally done with surgeries — until about a year later, when she came home from an uneventful session of tumbling gymnastics and said she couldn’t lift her left arm. “It’s okay,” she reassured her grandmother, “If I need it up I can just raise it with the other arm.”
Back at Children’s Hospital, Kristen says, an MRI showed a “cavernous malformation” — “a crazy rare lesion in her cervical spine” — just up below her brain stem, that had hemorrhaged. It was, Marc explains, deep inside the meat of the spinal cord, as far in as you could get.
The neurosurgeon did not want to operate, because it was in an extremely important part of Riley’s “real estate” and it might not bleed again. So Riley would be given steroids to reduce the swelling and checked frequently with an MRI. Once again, Kristen says, the message was that after this latest bit of trouble, “you’re going to go on and live a normal life.”
“That was the third time we’d heard that,” Marc, a Web developer, notes.
The steroids brought back function in Riley’s arm, but a few months later, the arm stopped working again, and an MRI showed another bleed in her spine, a bigger one. Now, it was clear that the malformation was, in the neurosurgeon’s language, “a bad actor.”
Pretty Scary Stuff
Riley would need major surgery, on a region that controlled her arms and legs and breathing, with a significant risk of paralysis and death. “It was pretty scary stuff,” Marc says.
The operation on Riley’s spinal cord went well, but she developed a common complication that left her unable to hold her neck up. The recommended treatment: spinal fusion, a complex operation that included rods, screws, and a metal halo that Riley would have to wear for nine weeks afterward.
One of the parental jobs when a child wears a halo is to clean the six screws that bolt it to the child’s skull, using peroxide and Q-tips to make sure the skin doesn’t stick to the hardware. “It’s a nightmare,” Kristen says.
It was a hard summer all around. On the upside, Riley was now attending Cocoons, “a fantastic preschool that allowed her to do everything she could while keeping her safe,” Marc says. The school held a sit-down meeting for Riley to explain to the other children why she was wearing a metal device, and let them ask her questions. (One child asked her: “Do you still have dreams while you’re wearing the halo?”)
“A lesson Riley and we learned early on is that it’s better to just talk about it with your friends and classmates so we get rid of all the questions and weirdness,” Marc says.
Again, all was quiet for a few months. Then, after Riley had a routine MRI, Marc and Kristen found themselves sitting for a suspiciously long time in the waiting room of Dr. Edward Smith, their neurosurgeon. Finally he called them in and told them that something looked amiss on her MRI.
Further testing brought terrible tidings. “He showed us a picture,” Kristen says, “and because I know vascular anomalies” — mistakes in blood vessel formation — “I know by looking at this picture that it’s really scary and really bad.” This time, Riley had an “arteriovenous” malformation, or AVM, in her spine, meaning possibly life-threatening hemorrhages.
Dr. Steven Fishman, Riley’s first surgeon at Children’s, explains: “An arteriovenous malformation is a connection of arteries to veins without the usual intervening tiny vessels called capillaries to slow down the blood.” So the blood can be rushing through at a dangerously high flow rate, since it lacks the usual resistance from the capillaries.
Marc’s memory of the picture: “It’s this tangle of blood vessels. It’s like a bird’s nest of blood vessels,” that had grown where they hadn’t been before. “The overriding theme is: Things grow,” he says.
Surgery was a daunting and dangerous prospect, so Riley would be treated with monthly embolizations, injections of a sort of medical glue meant to shrink the malformation. But instead of shrinking — and this was all but unheard-of — the malformation only continued to grow.
So in September of 2008, Riley went in for an embolization and spinal surgery that ended up lasting 14 hours. The waiting room filled up, and the waiting room emptied out. By evening, Marc and Kristen were the only ones there. Exhausted.
The news was good — at first. The operation went well. But Riley immediately hit complications, terrifying her parents by struggling to breathe late into that night. Her diaphragm, it turned out, had been left partly paralyzed.
A breathing machine could help by pushing air into her lungs, but wearing its mask virtually all the time meant she couldn’t talk or eat. Even for “a kid who’s now done a lot of difficult things,” Marc says, “this is a very difficult thing for her.”
Riley was in the Children’s Intensive Care Unit for five weeks. Previously, she had always bounced back astoundingly fast from her surgeries. “We had a kid who, within a day or two we were giving her a choice of did she want pancakes or waffles or both,” Marc says. This time was different.
After those five ICU weeks getting slowly, slowly better, she was moved to Spaulding Rehabilitation Hospital for another five weeks. Riley’s brother Cole had to stay in Maine, cared for by his grandmother and visiting when he could.
Riley’s best medical memory, she says, is from Spaulding, when she actually managed to walk from her bed to the room door.
That 2008 operation was surely the nadir of Riley’s medical experiences so far, but the saga goes on. Even the Cerabonas cannot help but express disbelief at her never-ending, and generally worsening, series of medical setbacks.
Take this one: In 2008, the family was preparing for Cole’s ninth birthday party when an urgent call came from Riley’s doctor: Her blood test suggested that she had diabetes. Marc and Riley missed the party because they had to go to the hospital.
The diabetes wasn’t completely out of nowhere; there was genetic loading from both parents’ families. But still, Marc says, “You kind of, at that point, are just, ‘Seriously???’”
Riley’s spine grew another malformation last year, and she underwent another spinal operation — an easier one this time because the growth was in a safer location, but high in anxiety after the trauma of 2008, and with many medical unknowns beforehand. It turned out to be her shortest operation yet, just eight hours.
“Which, for us,” Marc says, “is like wow, we’re done already?”
As that operation loomed, Kristen began researching non-surgical options. Through the growing networks of people with CLOVES and other types of vascular anomalies, she heard about a trial in Cincinatti of sirolimus, a drug already FDA-approved for use with organ transplants and apparently helpful to stop other types of malformations.
But Riley balked. After obeying medical commands her whole life, from hated blood draws to insulin management, she just said no.
To be continued.
Next week: Riley’s MRI, and how a family copes with a “medically complex” child.
For more than five years, WBUR multimedia producer Jesse Costa has known and admired the Cerabona family and thought that he should chronicle their daily struggles and joys. The Cerabonas have helped found a non-profit organization for CLOVES patients and their families and are participating in this project in order to help increase public awareness of the syndrome. For more information about CLOVES research go to the Cloves Syndrome Foundation.