Blog

Hope in sight for autosomal dominant optic atrophy (ADOA)

Posted on by | Research, Therapeutics/Diagnostics/Devices
Tags: ,
Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test. But behind these subtle signs lies progressive, irreversible vision loss in both eyes caused by deterioration of ... Read More
Tagged: ,

The dopamine reset: Restoring what’s missing in AADC deficiency

Posted on by | Research, Therapeutics/Diagnostics/Devices
Tags: , , ,
In March 2023, a young girl came to Boston Children’s Hospital unable to hold up her head — one striking symptom of aromatic L-amino acid decarboxylase (AADC) deficiency. This rare neurological disorder prevents the brain from producing dopamine and serotonin — essential chemicals for controlling movement, mood, and basic body functions. Without them, children experience ... Read More
Tagged: , , ,

An unbreakable bond: Brothers turn medical complexities into superpowers

Posted on by | Patient Stories
Tags:
“Look! Is that one JetBlue? I think that one’s Delta!” Running through the grass, climbing on the jungle gym, and watching planes take off and land at nearby Logan Airport: Castle Island in South Boston is Patrick and Teddy’s happy place. The brothers, ages 4 and 3 respectively, are almost as obsessed with airplanes as ... Read More
Tagged:

New research sheds light on the genetic roots of amblyopia

Posted on by | Research
Tags: , ,
For decades, amblyopia has been considered a disorder primarily caused by abnormal visual experiences early in life. But new research from Mary Whitman, MD, PhD, pediatric ophthalmologist in the Department of Ophthalmology at Boston Children’s Hospital, and her colleagues suggests the story is more complicated. “There may be underlying neurodevelopmental differences in children with amblyopia ... Read More
Tagged: , ,

Parsing the promise of inosine for neurogenic bladder

Posted on by | Research
Tags: , , ,
Spinal cord damage — whether from traumatic injury or conditions such as spina bifida — can have a profound impact on bladder function. This can result in neurogenic bladder, a problem in which damage to the nerves involved in urination leads to a loss of bladder control. Neurogenic bladder is currently managed with medication, Botox ... Read More
Tagged: , , ,

Team spirit: How working with an allergy psychologist got Amber back to cheering

Posted on by | Patient Stories
Tags: , ,
A bubbly high schooler with lots of friends and a passion for competitive cheerleading: On the surface, Amber’s life looks perfect. She even knows what she wants to be when she’s older — a cosmetologist, because she wants to help people feel their best through beauty. Her determination to help others is what drove her ... Read More
Tagged: , ,

Help your child manage anxiety about school violence

Posted on by | Health and Parenting
Tags: , ,
With news of school shootings and other violence often reaching children, parents sometimes grapple with how to help their child cope with fear and stress. We asked Erica Lee, PhD, a psychologist in the Department of Psychiatry and Behavioral Sciences at Boston Children’s, to offer suggestions on how you can ensure your child feels safe and comfortable going to ... Read More
Tagged: , ,

Ask a sports medicine specialist: Why are ACL tears so common among female athletes?

Posted on by | Health and Parenting
Tags: , , , , , ,
When an athlete is sprinting after an opponent who suddenly stops or changes direction, their anterior cruciate ligaments (ACLs) make it possible for them to continue their pursuit. This much talked-about ligament is the reason athletes can pivot, cut, jump, and land. “The ACL is one of the main stabilizing ligaments in the knee,” explains ... Read More
Tagged: , , , , , ,

“Princess June” reigns supreme over Rasmussen syndrome

Posted on by | Patient Stories
Tags: , , ,
What do you call a “girly” 5-year-old who adores dolls and frilly nightgowns? If you’re one of June Pelletier’s nurses at Boston Children’s Hospital, the answer is “Princess June,” of course. While Her Highness would much prefer to reign over her parents and three siblings at home in Connecticut, she’s no stranger to the hospital. ... Read More
Tagged: , , ,

Forging a path back to school after orthopedic trauma

Posted on by | Research
Tags:
Orthopedic trauma can force children to miss school, sometimes for an extended period. But even when patients have regained enough mobility to return to school, their schools aren’t always equipped to welcome them back. “Trauma is different from many other orthopedic conditions because it’s so unexpected,” says Kristin Livingston, MD, director of the Orthopedic Trauma ... Read More
Tagged: