Research offers guidance on genetic testing for cerebral palsy
A recent meta-analysis confirms what a small study at Boston Children’s found last year: About 1 in 4 children with cerebral palsy (CP) who had DNA testing had genetic variants likely to have caused or contributed to their condition. With the new data, the researchers have expanded the traditional view of the condition and offer ... Read More about Research offers guidance on genetic testing for cerebral palsy
A path forward for genetic testing in unexplained epilepsy
The number of genes implicated in epilepsy has grown rapidly in the past decade. This raises questions about what tests to offer to people with unexplained epilepsy and whether those tests would yield actionable information. Now, practice guidelines developed by genetic counselors at Boston Children’s Hospital offer a way forward. In the first systematic evidence ... Read More about A path forward for genetic testing in unexplained epilepsy
Sports medicine for single-sport athletes
As youth sports have become more structured and focused on results, sports medicine specialists have seen a growing number of sports injuries in younger patients. Is early sports specialization to blame? “Specializing in a single sport is not necessarily a cause for concern,” says Andrea Stracciolini, MD, director of Medical Sports Medicine at Boston Children’s ... Read More about Sports medicine for single-sport athletes
Sonny’s story: How an online Apert syndrome community set one family on a path to Boston
Sonny Daniel has had a busy summer. Between traveling, camp, and time with family and friends, this 4-year-old has constantly been on the go — something his parents, Kellie and Josh, are incredibly grateful for. Their gratitude stems a lot from seeing how far Sonny’s come in his journey with Apert syndrome, a genetic disorder that ... Read More about Sonny’s story: How an online Apert syndrome community set one family on a path to Boston
There’s no stopping Jack: His journey with craniosynostosis
Jack is almost 2 years old and loves to swim, chase his older sister around the house, and just bring lots of laughs to everyone he meets. For such a happy kid, he’s had an uphill battle to get to this point — starting when he was born. “Something wasn’t right with the shape of ... Read More about There’s no stopping Jack: His journey with craniosynostosis
Optimizing care for bronchopulmonary dysplasia, infant by infant
Preterm newborns with bronchopulmonary dysplasia (BPD) can require ongoing mechanical ventilation to support their lungs. But babies with BPD aren’t just newborns with underdeveloped lungs. Each has a unique presentation. And every part of their care is important, with the ultimate goal of enabling them to grow, develop, and go home to their families. The ... Read More about Optimizing care for bronchopulmonary dysplasia, infant by infant
Shining a light on the SPF gap: Why sun protection is so important for children of color
With summer just around the corner, it’s important to understand the risks that come along with those long, hot days in the sun. It’s also important to recognize some pretty dangerous misconceptions about sun protection — namely that Black children and other children of color don’t need to worry about skin protection and skin cancers. ... Read More about Shining a light on the SPF gap: Why sun protection is so important for children of color
Seeds of hope for Annie: one family’s story of epilepsy care
Ten-year-old Annie Dinan experienced her first noticeable seizure just before her fourth birthday while riding in the car with her family. “I had never seen a seizure in my entire life,” her mom, Lindsay, says of witnessing Annie lose then quickly regain consciousness. “But somehow, I knew exactly what it was.” Refusing to settle Following ... Read More about Seeds of hope for Annie: one family’s story of epilepsy care
Miles for Jack: Robin sequence and the bond between a family and doctor
For runners and non-runners alike, next week’s Boston Marathon is extra special. It marks a beloved tradition for the city, and for many, it’s a chance to once again run for those who can’t and bring awareness to causes worth fighting for. For 6-year-old Jack Ryan, this year’s marathon is a chance to cheer on ... Read More about Miles for Jack: Robin sequence and the bond between a family and doctor
Relative energy deficiency in sport (REDs): When athletes run on empty
The strength, skill, and speed of Olympic athletes help the rest of us understand human potential in a new light. But athletic glory can come at a high price. The quest to be the best can drive some athletes into punishing training routines, denying themselves of food and other basic needs. Whether training for the ... Read More about Relative energy deficiency in sport (REDs): When athletes run on empty