Research
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story
Patient Stories
Thinking – and operating – outside the box: Bypassing Saoirse’s aneurysm
Saoirse just turned 3. There was a big to-do for her birthday, complete with family flying to Massachusetts from Ireland for the occasion. The celebration was big because Saoirse has a lot to celebrate. About six months ago, doctors discovered an unstable aneurysm in her brain, and within days she underwent surgery to treat the ... Read More about Thinking – and operating – outside the box: Bypassing Saoirse’s aneurysm
Patient Stories
How transnasal endoscopy got Jamie back on the golf course
Jamie is like most 15-year-olds — he goes to school, hangs out with his friends, and still makes time to get outside to play some golf and baseball. However, when Jamie was having bouts of throwing up and getting food stuck in his throat, he and his mom, Tricia, knew it wasn’t just a case ... Read More about How transnasal endoscopy got Jamie back on the golf course
Health and Parenting
Biko’s legacy: Mom honors her son through water safety awareness
Biko Mangcu was “a big bright light,” says his mother, Sipho. Everyone in his Cambridge, Massachusetts, neighborhood knew him. His big brown eyes and wide smile were featured in advertising that still adorns toy packaging. At school, his teachers and classmates called him “the mayor.” “He was so full of love and joy,” says Sipho. ... Read More about Biko’s legacy: Mom honors her son through water safety awareness
Research
Finding a way to help newborns who can’t immediately have heart treatment
Newborns with complex congenital heart defects (CHD) and pulmonary overcirculation often need treatment as soon as possible. Unfortunately, some of these children are not in good enough health to withstand surgery. To address this challenge, Boston Children’s heart specialists leaned into technological innovation, their experience, and a perseverance that would ultimately confirm their belief that even the ... Read More about Finding a way to help newborns who can’t immediately have heart treatment
Research
Taming vaccine data: Joann Arce, PhD
Part of an ongoing series profiling researchers at Boston Children’s Hospital. Joann Arce, PhD, is a data tamer — corralling and wrangling vast quantities of data to extract insights on how our immune systems react to vaccines and infections. Her work is paving a path toward smarter, more potent vaccines. As lead of data management ... Read More about Taming vaccine data: Joann Arce, PhD
Patient Stories
Overcoming microtia, atresia, and speech challenges: Braelyn’s story
Eight-year-old Braelyn is a sweet, confident kid who loves everyone, dotes on her little sister Kamryn, does well in school, and never stops moving. Her parents, Danielle and Joseph, are incredibly grateful to see their daughter happy and thriving, especially after the long road it took to get here, including pharyngeal flap surgery and ear ... Read More about Overcoming microtia, atresia, and speech challenges: Braelyn’s story
Health and Parenting
Chronic headaches: Five things families should know
You might think of headaches as an adult problem, but they can affect children and teens, too. In fact, about 20 percent of school-aged kids are prone to headaches, according to the National Headache Foundation. A smaller number of those kids experience chronic headaches, which are defined as headaches that occur 15 or more days ... Read More about Chronic headaches: Five things families should know
Patient Stories
Virtual visits give Weston time to grow and thrive
For many kids and parents, staying home during the COVID-19 pandemic was a challenge. But for Weston Mahady and his family, social distancing was just what the doctor ordered. The slowed-down pace, time spent together — and access to virtual appointments with Boston Children’s specialists — allowed Weston to make developmental strides that once hadn’t ... Read More about Virtual visits give Weston time to grow and thrive
Patient Stories
A family’s search for answers and hope for PACS1 syndrome
Alya, 9, was about three weeks old when her mother, Taruna, noticed movements and behaviors she was concerned might be seizures. What followed were multiple hospitals, multiple tests, and eventually a diagnosis of PACS1 syndrome. This rare genetic neurodevelopmental disorder can lead to intellectual disabilities and delays and currently has no cure. “We were told to ... Read More about A family’s search for answers and hope for PACS1 syndrome