Allison seems an unlikely candidate to teach medicine to Mark Kieran. She’s an 8-year-old New Hampshire second grader who loves basketball, hip hop, acrobatic dancing and jewelry. He’s a pediatric neuro-oncologist with a PhD in molecular biology, not to mention decades of clinical and research experience. But teach Kieran, Allison does.
In December 2012, Allison was diagnosed with metastatic anaplastic astrocytoma brain tumors — two on her brain stem, two on her spine, and three at the top of her head. She had surgery and chemotherapy — and for two months her tumors responded to therapy. Then treatment stopped working.
Genomic testing revealed Allison’s tumors had a genetic mutation — a so-called BRAF mutation — seen in some cases of the skin cancer melanoma, which mainly affects adults.
Kieran, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, suggested enrolling Allison on a clinical trial of dabrafenib, a drug targeting the BRAF mutation in melanoma patients.
She would be the first pediatric brain tumor patient in the world to join the trial.
Liz Beaulieu is likely the only person in the world who can say she saved her child by falling down the stairs.
Her daughter, Arielle, was just 4 days old. Liz was carrying her downstairs when she slipped. Not sure whether Arielle had hit her head, she whisked her to her local ER.
“She seemed fine, and they said that she looked fine,” Liz says. Still concerned, though, Liz kept a close eye on Arielle over the next couple of days. That’s when she noticed something.
“I noticed the slightest flicker of her eyes,” Liz recalls, “and decided that I wanted to get it checked out.” She took Arielle back to the hospital, asking them to do a CT scan. The hospital demurred, but Liz insisted, telling them she needed the peace of mind.
“So they did the scan,” Liz recalls, “and they found an enormous tumor.”
Arielle had been born with a congenital intracranial teratoma (CIT)—a kind of germ cell tumor and one of the rarest of rare brain tumors. CIT grows rapidly, squeezing the brain and eventually taking over all of the space inside the skull. Very, very few children survive. …
By Irene Sege
Even in its most common form, childhood cancer is rare. Imagine then that the reason your 2-year-old daughter is vomiting and can’t hold her head straight is not a virus, as doctors originally suspected, but an incredibly rare brain tumor. This is precisely what John Savage and Michelle Long of Cork, Ireland, faced in November 2012, when their daughter Alisha Savage was diagnosed with Stage IV atypical teratoid rhabdoid tumors.
On Jan. 24, 2014, the family arrived in Boston to have Alisha treated at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “We researched a lot of hospitals in the U.S. We didn’t just jump on a plane. This is our best hope,” John Savage says. “We could be here three months. It could be three years.”
Megan Nighbor is one of about 100 children in the world known to have progeria, a genetic disorder that’s caused her to show signs of old age. Children die from this rare disease at an average age of 13 from a heart attack or stroke, and there’s been no treatment.
But in 2007, Megan and 27 other children with progeria from around the world were flown to Boston Children’s Hospital at the expense of the Progeria Research Foundation to enter a first-ever clinical trial. They each received a drug called lonafarnib, under the supervision of principal investigator Mark Kieran, MD, PhD, Director of Pediatric Medical Neuro-Oncology at the Dana-Farber/Children’s Hospital Cancer Center.
The results, just announced yesterday, are exciting. While we don’t yet know the drug’s effect on life expectancy, all the children had some of their aging symptoms reversed: 1 in 3 had a marked improvement in weight gain—or stopped losing weight and started gaining. More than a third had less blood vessel stiffness, a risk factor for strokes and heart attacks. And many had improved bone density and flexibility and better hearing.
The work continues: A second trial, adding two more drugs, is nearly complete, and a third is already planned.
“We want them to be living until they’re 80, having families and dying of true old age,” says Leslie Gordon, MD, PhD, Clinical Trial Co-Chair with the Progeria Research Foundation.
For more information on this exciting breakthrough, read in our sister blog, Vector, about how the original genetic discovery led to a successful clinical trial in just a decade—and what lessons the progeria story may offer about aging in all of us.