the life of riley

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Life Of Riley: On Into The Unknown For Rare Girl With Rare Disease

This is the final installment in a special CommonHealth/WBUR series, The Life of Riley: A Rare Girl, A Rare Disease. It’s the story of Riley Cerabona, a remarkable ten-year-old girl born with an incurable, one-in-a-million disease that creates increasingly aggressive “lumps and bumps” on and in her body. So far, the only treatment for her disease, CLOVES syndrome, has been surgery. But this year, at Boston Children’s Hospital, Riley began taking an experimental drug in hopes that it would help her. See the full series here, and the introduction here.

Something was wrong. Riley was limping and her legs felt oddly tired, weakening; they tended to buckle when she took a step.

Could it be the sirolimus, the experimental drug she was taking? Would she have to drop it? Or was it yet another dangerous growth in her spine, caused by her exceedingly rare disease? Would she need one more risky operation?

Late summer was a time of dread for the Cerabona family. But MRIs of Riley’s brain and spine showed no new growths, and blood work suggested that the leg weakness was likely caused by an elevated muscle enzyme. The weakness passed, yet another threat averted — yet another dip and swoop in a roller-coaster year that has, overall, been an unusually fine one.

Riley sums up: “”It was a good year. This year I had fun, did stuff like surfing, drama called River Glee and boogie boarded and skiied, hung out with friends and didn’t have any surgeries. Life to me is like a brownie. Because you eat it slowly and you savor it. And if you savor it there will always be a bite left. (Plus a brownie is one of my favorite foods).”

Indeed, unlike so many past years, Riley underwent no major surgery and needed no extensive rehabilitation. No twisted nest of malformed blood vessels infested her spine and threatened her life; no huge pouch of lymphatic fluid swelled on her torso. And earlier this month, in a small exam room at Boston Children’s Hospital, she happily downed her last dose of the viscous sirolumus (si-ro-LI-mus) that has marred mealtimes for almost a year, and stuck out her tongue one last time at the nastiness.

Riley Cerabona celebrates her last dose of nasty-tasting medicine.  (Jesse Costa/WBUR)

Riley Cerabona celebrates her last dose of nasty-tasting medicine. Behind her: Dr. Cameron Trenor. (Photo: Kristen Davis)

After 48 weeks, her time on the sirolimus trial was over, and that juncture required a decision: Would she remain on the drug, apart from the study?

It might seem like a no-brainer: She had a good year on the drug; stay on it. But it is not so simple.

“The hard thing about this is that you don’t really know,” Marc Cerabona, Riley’s father, said. “And we knew this at the beginning, going into it. We don’t know if she had a good year because of the sirolimus or if she was just going to have a good year this year anyway. But the bottom line for us is, she had a good year and there were no significant side effects. So if there’s a chance that was related to the sirolimus, then why not stay on it? The doctors want to hear a compelling reason to stay on it; we almost want to hear a compelling reason not to be on it.”

Dr. Cameron Trenor, the Children’s specialist overseeing Riley’s trial here: “This is the problem in rare diseases — that everything is an unknown. That’s not talked about a lot. Families live with it every day, so they know it very well, and in pediatrics dealing with rare diseases, I guess we get a little used to it, but everything is new. And the tendency, which is just human nature, is to expect whatever happened to your last patient to represent the whole story, but I can tell you lots of cases where that’s not true. And it’s a real challenge in rare diseases, living day in and day out with the unknown.”

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Faces Of CLOVES: Children With 1-In-A-Million Disease Gather

This spring, WBUR posted a series on Riley Cerabona, a remarkable Maine girl with CLOVES, a disease so rare that only about 100 people in the world have been diagnosed with it. The full series is here.

We promised regular updates but — I can’t remember ever being so happy as a journalist to write this — there’s been very little to report, at least in terms of Riley’s medical condition. Her MRI’s have shown no sign that dangerous new malformations — what she calls “lumps and bumps” — are growing on her spine. Riley’s mother, Kristen Davis, recently wrote on Facebook: “Stable has been strange to get used to, after so much non-stable time, but we are so grateful and loving it!!”

Stable does not mean quiet, however. Last weekend at Boston Children’s Hospital, more patients with CLOVES gathered in one room than ever before: 13 out of the estimated 100. The setting was the first full formal conference on CLOVES, bringing together patients, parents, doctors and researchers to learn from one another and share experiences. WBUR’s Jesse Costa photographed the conference and produced the slideshow above.

Kristen reports a lot of “parents sharing with doctors; doctors sharing with parents; and kids hanging out together. It just felt very collaborative.” Continue reading

Researchers Find Gene For 9-Year-Old Girl’s 1-In-A-Million Disease

This is an update in the special CommonHealth/WBUR series, “The Life of Riley: A Rare Girl, A Rare Disease.” It’s the story of a remarkable 9-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 Boston Children’s Hospital, Riley is trying an experimental drug that may — or may not — help her. See the full series here.


At dinner the other night, Riley Cerabona’s parents tried to explain the very good news that would be officially announced by Boston Children’s Hospital today: Researchers have discovered the gene mutation that causes CLOVES syndrome, Riley’s exceedingly rare disease.

It didn’t go very well. “We were trying to explain DNA to a 9-year-old,” Riley’s mother, Kristen Davis, said. “It really was a big flop.” Finally, she said, “We boiled it down to: Remember in March of last year when we gave the researchers at the family conference your spit?”

Riley remembered. “Well, they’ve been looking at all the information in your spit and in tissue from your surgeries under the microscope, and they’ve also been looking at tissue from other people with CLOVES. And they’ve found a little missing piece of the puzzle in some of your cells.”

Riley is too young to understand the full implications, but Kristen, who has known about the finding for days, says she has been feeling like a kid before Christmas. “There’s still a lot to learn,” she said, but “I feel like it’s a huge answer to the beginning of the mystery.”

‘Science is a year’s worth of really hard work for about an hour’s worth of euphoria, followed by two or three sleepless nights.’

That answer also has potential implications for eventual treatments for Riley. The mutations at work — which occur as an embryo develops rather than being inherited from parents — have also been detected in some cancers, and drug companies are already working on treatments to block them. The gene paper, just out in the American Journal of Human Genetics, notes that “These same inhibitors might have therapeutic applications for individuals with CLOVES syndrome.” Until this year’s clinical trial of a drug called sirolimus at Children’s, the only treatment for Riley has been one harrowing operation after another.

I spoke with Dr. Matthew Warman, director of the orthopedic research laboratories at Children’s and the paper’s senior author, and one comment of his made me laugh out loud. I asked him whether there had been one of those wonderful “Eureka” moments when his team realized they had indeed pinpointed the CLOVES gene, and he replied:

“We were incredibly excited obviously — but science is a very funny thing: Science is a year’s worth of really hard work for about an hour’s worth of euphoria, followed by two or three sleepless nights. You can’t sleep because your brain is thinking about all the things you need to do to go to the next step.” Continue reading

Life Of Riley: How Do They Do It? Coping Lessons From The Masters

I know this will embarrass them, but I regard Kristen Davis and Marc Cerabona much as I see marathoners and professional musicians. They take something that many of us do — parenting — and elevate it to a whole different level. Watch Jesse Costa’s beautiful video above to see them in action.

This is the final — for now — installment in WBUR’s multi-media series, “The Life of Riley: A Rare Girl, A Rare Disease.” Riley, Kristen and Marc’s 9-year-old daughter, has CLOVES Syndrome, which makes “lumps and bumps” grow on and inside her body — from benign but big tumors to potentially life-threatening blood vessel malformations. We’ve explored the joys and difficulties of Riley’s life; the science behind her diagnosis; and the experimental drug that may offer an alternative to repeated risky surgeries. The full series will live on here, and be occasionally updated in the coming months.  

The American Academy of Pediatrics estimates that 15% of American children — about 11 million in all — have “special health care needs.” Special needs tend to demand special caregivers.  Today, we look at the virtuoso parenting that has inspired such admiration in Riley’s doctors that they hope the family can be studied in order to share their resilience lessons with others.

How do they do it? I pestered Kristen and Marc with this question in a dozen different forms. How do they bear the fear and anxiety? How do they suffer the sleep deprivation of getting up at night to help Riley with her breathing machine or her blood sugar? How do they divide the unforgiving labor? How do they keep a family — endlessly demanding even under ideal circumstances — afloat and even frequently laughing through one medical crisis after another?

I asked as a parenting wimp who freaks out at every fever and drags through the day if woken even once at night. I sat at their feet, grateful for their candor, and came away with a dozen lessons. Our conversation, edited and distilled.

1. Accept your lack of control

This has been the hardest part of parenting for me. I was never an anxious person, largely because I figured that whatever happened to me, I’d somehow handle it emotionally. But that’s no consolation when the wellbeing of my child is at stake. It’s not about me. I just want the kid to be okay. What matters most to me in the world is out of my control. How, how, how, I asked Kristen, do you handle the perpetual medical limbo in which you’ve lived?

Kristen: That’s been a whole process, because my natural place to go is to be very organized and type A. So that’s been a whole relearning process for me about how not to be that way and just kind of go with the flow.

‘We acknowledge that it’s hard. We acknowledge that it’s unfair. And then we also talk about what’s good still.’ 

I think I’m way better than I used to be at that, but it’s really, really hard. If it were just me, it would be easier, but there are multiple people who are impacted by the limbo. So it’s a struggle — a struggle not to know what’s going to happen.

I think I’ve become much better able to identify what I can control and what I can’t, and when I just have to kind of see what happens. I don’t feel like that’s defeatist or anything. I feel like that just makes sense.

So how do you cope with the fact that something that you can’t control means everything to you?

I don’t have an answer for that. We’re living it.

Do you get used to the drama and fear, or does it get worse? Continue reading

‘The Life Of Riley’: Sharing Some Of Her Joys, Cats And Chickens

This is the fifth and near-final installment in a special CommonHealth/WBUR series, The Life Of RIley: A Rare Girl, A Rare Disease.

 It’s the story of Riley Cerabona, 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. Click on the audio file above for the radio version of her story.

In the video by WBUR’s Jesse Costa above, Riley shares some of her joys, and discusses how she responds when people ask her about her disease, CLOVES Syndrome. In our final — for now — series post next week, we plan to explore how Riley’s family copes with the demands of daily life with a “medically complex” child, punctuated by one frightening medical crisis after another.

Riley Cerabona lives with her parents and brother in a cozy gray house by the blueberry plains of Kennebunk, Maine. The family has a dog, three cats and four backyard chickens that give them fresh eggs for breakfast. One of the cats, Mongoose, is Riley’s most loyal animal friend.

“Even when I’m crying he runs, jumps on my bed and snuggles with me,” Riley said.

The fresh eggs are the good part of breakfast. The bad part is that Riley has to swallow down her morning dose of an oily, rancid-tasting medicine. According to Riley, “It tastes horrible. like moldy peanut butter.”

“One of the things that happens with us with this syndrome is that we get told things are OK and then we hear later on, ‘Actually no, that’s not true.’”
– Kristen, Riley's mother

But the nasty flavor may be worth it. The medicine is called sirolimus, and right now Riley is taking it as part of a clinical trial at Children’s Hospital Boston. The hope is that her disease can be treated by medicine instead of surgery. Cole, Riley’s 12-year-old brother, has watched her endure one operation after another.

“And my first thought is quack, quack, quack, because I didn’t think it would be able to do anything, because I had never heard of anything that could treat malformations other than operations,” Cole said.

Cole and Riley’s mother, Kristen, pushed hard for Riley to join the trial, but even she has her own doubts.

“I really want to be hopeful about this trial, I really do,” Kristen said. “I also feel like nothing else has worked, so why would this?” Continue reading

Life Of Riley: Choosing To Try Though Nothing Else Has Worked

This is the fourth 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 Cerabona is trying an experimental drug that may—or may not—help her.

When Riley’s 12-year-old brother, Cole, heard that she might try an unproven medicine, his instinctive reaction was pure doubt.

“My first thought is, ‘Quack, quack, quack,” Cole said. “I was just very skeptical because I had never heard of anything that could treat malformations other than operations.”

Riley’s parents had their questions, too, when they heard last year that the clinical trial would begin soon at Children’s Hospital Boston. The trial was not specifically for CLOVES, RIley’s syndrome, but for nearly a dozen other “vascular anomalies,” growths involving mis-formed blood or lymph vessels. And the drug it offered, sirolimus, (pronounced seer-o-LI-mus), though not brand new, was just beginning to be tested for this new purpose.

‘I really want to be hopeful about this trial. I also feel like nothing else has worked, so why would this?’

Riley, herself, had perhaps the biggest doubts of all. All her life, she had always steeled herself to do whatever was medically necessary, but this time, she simply balked. She said no. No nasty meds and extra blood draws and missed school days for trips from her Maine home to Boston. No.

“This is a kid that has had an ungodly amount of medical intervention and I don’t think she wanted any more,” her father, Marc, said. “ And we couldn’t say this is going to do anything. We still, to this day, can’t.”

Riley’s parents wrestled with the dilemma of whether they should somehow try to force her to participate in the trial. True, it had no guarantee, but it might be her best hope, and her disease had been progressing. But how could they? The discussion and parental angst lasted for weeks.

In the end, RIley decided that if the drug might decrease the need for surgery in the future, she was willing to try it, said her mother, Kristen Davis. “In our life, I see that as a turning point in her treatment,” Kristen added. “She was advocating for herself and buying into the notion of being an active participant in her own care.” Continue reading

Life Of Riley: A Peculiar Pattern, An Aha Moment And A Lifesaving Label

http://www.youtube.com/watch?v=uux6Xj0eovE

This is the third 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.

Last week, Riley went in for the 32nd MRI of her young life. The stakes were high: If there was a significant new growth on her spine, she might be knocked off the Children’s clinical trial—and possibly face another operation.

The news is good: The MRI showed that her spine looked “stable.” Riley and her family rejoiced but did not celebrate. Kristen Davis, Riley’s mother, emailed: “It’s kind of sad that we didn’t celebrate but we are all very guarded in terms of our hopefulness about this news.”

This week, we explore the genesis of CLOVES, Riley’s disease, and how one doctor’s obsessive talent for pattern recognition ended up helping her and many others.

http://youtu.be/wUowD6q_yus

The patients all shared certain peculiar features with no obvious link: Lumps in the back. Left leg bigger than right leg, or some other asymmetry. Unusually shaped feet. Flaws in the formation of their veins or arteries, known as vascular anomalies. Mole-like spots on their skin, or “port wine”-colored stains.

These patients are different, Dr. Ahmad Alomari recalls thinking. Different from others, but somehow alike.

He wrote his observations on slips of paper and they accumulated in his office, among the piles containing thousands of other notes. A radiologist at Children’s Hospital Boston, Dr. Alomari is known for having an extraordinary eye for patterns. But this pattern wouldn’t quite gel.

So just before he was due to take a leave in mid-2006, he effectively locked himself into an empty lab room and began to look at images of the hospital’s vascular anomalies patients. Thousands upon thousands of images. He would set down his cup of coffee on his desk by 6 in the morning and close the door. He would not eat; he would barely leave his seat, until he went home at 8 or 9 in the evening. His colleagues joked that they should pass him in food under the door.

This single-minded self-confinement went on for more than a month. Ultimately, what came from it was a new diagnosis with the power to save lives. Continue reading

Life Of Riley: Here Comes My 32nd MRI

This is the second 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.

This week, Riley lay confined in the claustrophobic tube of an MRI machine for more than two hours. Even for such a veteran of the magnetthis was her 32nd MRI scanthat was long, and even with a movie to watch on goggles, the time in forced immobility passed too slowly.

But the test was a critical one: If there was a significant new growth on her spine, she might be knocked off the Children’s clinical trialand possibly face another operation. (“Any past surgeries for her?” a nurse asked Riley’s father, Marc. “Yes,” he responded matter-of-factly. “She’s had like 14 surgeries.”)

The MRI was a test at another level as well. When a scan looms ahead for Riley, it is naturally a time of dread for her and her family, because so often in the past the results have meant more danger, more surgery. “It’s hard to get around the anxiety,” said Riley’s mother, Kristen Davis, “because almost every MRI has brought up something significantly new and bad.”

In the photos by WBUR’s Jesse Costa above: Riley draws comfort from a favorite blanket; it was mainly new silky-soft fabric, but Kristen had also sewed onto it the tattered scraps of “blankies” past that have helped Riley through her countless days in hospitals and doctor’s offices.

The blue clip held closed Riley’s hospital johnny, and Marc stayed in the room with Riley the entire “creepy” time she was in the magnet. Day to day, it is Kristen who gives Riley most of her medical care, but company in the MRI is a longstanding father-daughter tradition.

In the video diary below, Riley talks about her feline comforter-in-chief, the “big fuzzbucket” Mongoose, and about her strategies for getting through an MRI: Relax, deep breaths, think about her cat. She also interviews Kristen about her own tactics for overcoming her pre-MRI worry.

Please stay tuned for this scan’s results next Friday. In the coming weeks, we’ll also get to know Riley and her family better, and meet her medical team, who will guide us through the ongoing research into diagnosis and treatment of CLOVES, Riley’s disease.

Riley's video diary: Preparing for the MRI

Life of Riley: Rare Girl Battles A Rare Disease

Riley Cerabona (Courtesy of Kristen Davis)

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. 


Meet Riley.

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.”

Riley as a baby with her mother, Kristen Davis, and brother, Cole (Courtesy of Kristen Davis)

Riley as a baby with her mother, Kristen Davis, and brother, Cole (Courtesy of Kristen Davis)

“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.

Riley as a toddler (Courtesy of Kristen Davis)

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.

Riley wearing her post-surgery halo

Riley wearing her post-surgery halo (Courtesy of Kristen Davis)

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.


http://www.youtube.com/watch?v=AFRS2i0P5pg

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. Continue reading