Archive for Katie Paradis
Promising advances in fetal therapy for vein of Galen malformation
In 2024, Megan Ingram* of California and her husband were preparing for the birth of their third child when a 34-week ultrasound revealed a potential complication. Their obstetrics team suspected a vein of Galen malformation (VOGM) — a rare vascular condition involving significantly elevated blood flow to the head because of direct connections between arteries ... Read More about Promising advances in fetal therapy for vein of Galen malformation
A case for Kennedy — and for rapid genomic testing in every NICU
Kennedy was born in August 2025 after what her parents, John and Diana, describe as an uneventful pregnancy. Soon after delivery, though, she struggled to breathe and feed. What followed was a series of hospital stays, a complex diagnosis, and a glimpse into how rapid genomic testing can deliver answers that guide critical decisions and ... Read More about A case for Kennedy — and for rapid genomic testing in every NICU
Tagged: genetics and genomics, nicu, rare disease
Hope in sight for autosomal dominant optic atrophy (ADOA)
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 about Hope in sight for autosomal dominant optic atrophy (ADOA)
The dopamine reset: Restoring what’s missing in AADC deficiency
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 about The dopamine reset: Restoring what’s missing in AADC deficiency
Tagged: gene therapy, neurology, research, seizures
Which pain medication is right for your child? What a pediatrician wants parents to know
There’s no shortage of safe and effective pain medications for children. Acetaminophen (commonly known as Tylenol), ibuprofen (Motrin, Advil), and naproxen (Aleve, Naprosyn) are the most common over-the-counter options, but how do you know which one is best to use when? “Each pain medication has its own benefits and risks,” says Dr. Susan Harp, a ... Read More about Which pain medication is right for your child? What a pediatrician wants parents to know
Tagged: headaches, pain, primary care alliance, safety, well child care
Unveiling the hidden impact of moyamoya disease: Brain injury without symptoms
Moyamoya disease — a rare, progressive condition that narrows the brain’s blood vessels — leads to an increased risk of stroke and other neurological conditions. Doctors treating children with moyamoya often face difficult decisions about treatment, notably deciding whether to perform revascularization, a surgery to bypass the narrowed blood vessels and restore blood flow. A ... Read More about Unveiling the hidden impact of moyamoya disease: Brain injury without symptoms
Could the falcine sinus hold the key to vein of Galen outcomes?
A Boston Children’s Hospital study uncovers how fetal magnetic resonance imaging (MRI) could be a game-changer in predicting outcomes for infants born with vein of Galen malformations (VOGMs). The study, just published in Stroke, focused on the width of the falcine sinus (FS) — the fetal structure that channels blood from the malformation back to ... Read More about Could the falcine sinus hold the key to vein of Galen outcomes?
For Fiadh: Pushing the envelope to treat drug-resistant epilepsy
Fiadh is a bubbly and empathetic 4-year-old. And if you ask her parents, Elaine and Dario, she’s also mischievous and wild. “She knows when she shouldn’t be doing something,” Elaine says. “Then she gives you a look, giggles, and does it anyway.” Fiadh’s tenacity likely comes from her mother, which is a good thing. After ... Read More about For Fiadh: Pushing the envelope to treat drug-resistant epilepsy
Tagged: eeg, epilepsy, neurosurgery, seizures
Breaking new ground in cerebral cavernous malformation research
Children with cavernous malformations face unique treatment challenges due to factors such as the malformation’s location, size, risk of bleeding, and the complexities of pediatric tissue development. To address these issues effectively, advanced diagnostics and precise interventions are essential. This is why Ed Smith, MD, and the team at the Cerebrovascular Surgery and Interventions Center ... Read More about Breaking new ground in cerebral cavernous malformation research
Full-family support sees Hannah and her parents through AVM surgery
Nine-year-old Hannah from Vermont is passionate about skiing; not much keeps her off the slopes. In fact, not much slows her down or dampens her energy, period. So, when she experienced a ruptured arteriovenous malformation (AVM) last spring, she wasn’t sidelined long. Her parents, Katie and Rich, credit Hannah’s remarkable recovery to her vivacious spirit ... Read More about Full-family support sees Hannah and her parents through AVM surgery