Research
Exploring autism by way of three rare genetic disorders
Rajna Filip-Dhima, MS is a senior project manager for the Translational Neuroscience Center at Boston Children’s Hospital and for the Developmental Synaptopathies Consortium, which just received a new cycle of NIH funding. Autism spectrum disorder (ASD) is now believed to affect 1 in 59 children in the U.S. Over the past five years, Boston Children’s Hospital ... Read More about Exploring autism by way of three rare genetic disorders
Our Community
Provider Spotlight: Meet Dr. Carrie Heincelman
Dr. Carrie Heincelman joined the Orthopedic and Sports Medicine Center as an attending physician in orthopedic oncology in August 2019. She grew up in New Mexico and is a long-time Red Sox fan. How would you describe the work of an orthopedic oncologist? Patients get sent to us, essentially, anytime there’s an abnormality found in ... Read More about Provider Spotlight: Meet Dr. Carrie Heincelman
Health and Parenting
Talking about a child with special needs: Tips from a mom
Our two girls, Lily (age 8) and Elise (age 6), were both diagnosed with SYNGAP1 syndrome last year. At the time there were only 250 known cases of SYNGAP1 in the world. Yes, that means our girls are 2 out of 250. It is extremely rare, and even more rare to have two children with a de ... Read More about Talking about a child with special needs: Tips from a mom
Research
Exploring an unsung part of the brain: the choroid plexus
If you’ve never heard of the choroid plexus, you’re not alone. In fact, few neuroscientists know much about this part of the brain. In the words of the late comedian Rodney Dangerfield, the choroid plexus “don’t get no respect.” But that’s beginning to change, thanks in part to Maria Lehtinen, PhD, who has made the ... Read More about Exploring an unsung part of the brain: the choroid plexus
Patient Stories
An education in hemophilia for Colin’s new school
Every morning, one of Colin Bazinsky’s parents puts a needle into his chest to give him an infusion of clotting factor. You wouldn’t guess anything was amiss from the placid look on the 3-year-old’s face as he receives the infusion to treat his hemophilia. His state of calm reflects his parents’ matter-of-fact approach to the ... Read More about An education in hemophilia for Colin’s new school
Health and Parenting
Growing up with short bowel syndrome: Follow-up care matters
Short bowel syndrome, a serious condition in which a child lacks sufficient small intestine to absorb the nutrients the body needs to grow and thrive, was once a devastating diagnosis. Today, advances in care have helped save — and change — the lives of many kids with this disease. In fact, the multidisciplinary approach taken ... Read More about Growing up with short bowel syndrome: Follow-up care matters
Our Community
Staff Spotlight: Meet Paula Cruz
Paula Cruz is a registered nurse in the Colorectal and Pelvic Malformation Center at Boston Children’s Hospital. The center treats children with complex colorectal and pelvic conditions, including anorectal malformations, cloacal deformities, and cloacal exstrophy. In addition to treatments such as surgical procedures and medical management, the center offers a bowel management program for children who are ... Read More about Staff Spotlight: Meet Paula Cruz
Research
Diet, the microbiome, and how insulin resistance causes metabolic syndrome
Up to a third of U.S. adults have metabolic syndrome, a constellation of high blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol levels. Now considered to be epidemic, metabolic syndrome increases people’s risk of diabetes, heart disease, and stroke, as well as kidney and neurodegenerative disease. Metabolic syndrome is ... Read More about Diet, the microbiome, and how insulin resistance causes metabolic syndrome
Patient Stories
Second opinion gives Charlotte a second chance
After struggling to conceive their second child, Jennifer and Keith Bent were thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April of 2016. Jennifer felt the baby’s first kicks on Nov. 23, 2015. The next day, she was scheduled for an anatomy ... Read More about Second opinion gives Charlotte a second chance
Health and Parenting
Managing your child’s treatment-related nausea
Treatment-related nausea is an unpleasant side effect that can occur before, during, or after cancer treatments such as chemotherapy and radiation. Antiemetic medications are typically used to treat nausea and vomiting, but there are other strategies that can help. Dr. Kristen Uhl, of Pediatric Psychosocial Oncology at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, specializes in pediatric pain ... Read More about Managing your child’s treatment-related nausea