CommonHealth

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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 →

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.”

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 →

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.”

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 →