It’s personal: How the Boston Children’s progeria research community brought new life to an old drug
In late November, the U.S. Food and Drug Administration (FDA) approved a repurposed cancer drug called lonafarnib to treat Hutchinson-Gilford progeria syndrome, better known as progeria — an ultra-rare incurable genetic disease associated with rapid aging. On average, children with progeria die before age 15, usually the result of rapidly accelerated atherosclerosis resulting in heart ... Read More
A rebirth in Boston: Gene therapy turns 10
Lea la versión en español. Dec. 17 marks a decade since Agustín Cáceres was “renacido” — reborn. That’s how his parents, Alberto and Marcela, describe the day their son received his new gene. Born in 2010 with X-linked severe combined immunodeficiency (SCID-X1), Agustín spent the first few months of his life in isolation, at home ... Read More
Devina’s story: Minimally invasive Foker process repairs esophageal atresia
Selina De Leon doesn’t have a background in medicine — but she does have experience being a mom. When the mother of four learned that her youngest child, Devina, had a rare birth defect, “I said, ‘esophageal what?’” she remembers. The condition, called esophageal atresia (EA), occurs when a baby’s esophagus develops in two separate ... Read More
Osteosarcoma patient gets chance to be a ‘normal college kid’
For almost half of his life, Michael Murray has had to grapple with cancer, including multiple relapses. One of his hardest setbacks was hearing that his cancer had returned just weeks before he was set to start his freshman year at Boston College. With the news, Michael worried that his future would be in jeopardy. ... Read More
IBD surgery gives Ben a new taste for life (and hamburgers)
Ben Irland, 13, has been enjoying a lot of hamburgers lately. It’s an exciting development for him, since until recently meat — as well as most other foods — caused him pain. That’s because Ben has been dealing with the effects of Crohn’s disease, one form of inflammatory bowel disease (IBD), for the past decade. ... Read More
Still within reach: Virtual visits keep Hadley plugged into stroke care
When it’s time for Hadley Rizza to see her care team in the Stroke and Cerebrovascular Center at Boston Children’s Hospital, she doesn’t have to leave home. Although Hadley and her parents, Eric and Meredith, live in the Pacific Northwest, appointments with her clinicians are just a click away, thanks to the hospital’s Virtual Visits ... Read More
Appreciating the small things: A New York family’s journey with CHD
The Harris family of Monroe, New York, are no strangers to congenital heart disease (CHD). Eighteen-year-old Jack Jr. grew up living with CHD, but had always been active. His father, Jack Sr., had also lived an active adulthood, completely unaware of his future CHD diagnosis. When they each found themselves in need of heart surgery, ... Read More
Avoiding a dangerous attraction to magnets: Lainey’s story
A few days before Valentine’s Day in 2013, 2-year-old Lainey Styles wasn’t feeling well. She had vomited, was lethargic, and had a fever. After visiting the pediatrician, her mother Jessica thought Lainey had a stomach virus. But the appearance of a softball size bruise around Lainey’s belly button a couple of days later prompted her ... Read More
Fighting for answers: Innovative approach to epilepsy helps Emma thrive
As a nurse, Lynda Coto was used to solving problems — until she was faced with her own daughter’s seemingly inexplicable illness. “I always have answers, and if I don’t, I find them,” she says. “But this time, I just didn’t know.” The questions surrounding Emma’s health began almost as soon as she was born. At ... Read More
Un renacimiento en Boston: la terapia genética cumple 10 años
Read the English version. El 17 de diciembre se cumple una década desde que Agustín Cáceres “renació”. Así describen sus padres, Alberto y Marcela, el día en que su hijo recibió su nuevo gen. Nacido en 2010 con inmunodeficiencia combinada grave ligada al cromosoma X (SCID-X1), Agustín pasó los primeros meses de su vida en ... Read More