Connecticut Children's Blog

Eight-year-old Fifi is, in her mom’s words, a “firestorm of positivity.” Every day, she rises to the challenges of her rare disease with determination, kindness, and a knack for brightening even the darkest days. Through a clinical trial that recently concluded at Connecticut Children’s, Fifi is also part of history. Every four months for the […]

Every Friday, 24-year-old Monique Hilson spends the better part of the day at Connecticut Children’s infusion center. There, she receives a medication to ease the effects of the rare disease she was born with. To pass the time, she makes and shares art. “Her artwork is incredible,” says Julia Gardner, BSN, RN, who provides care […]

After 15 years and multiple misdiagnoses, Kelly Amato says her son finally found the right doctor and a medical “home” for his rare bone disorder at Connecticut Children’s. Families that have a child with a rare disease search endlessly for a doctor willing to take them in – a doctor willing to believe them and […]

At Connecticut Children’s, some of the top physician-researchers in the nation are doing whatever it takes to transform care for children with rare diseases. We sat down with Gyula Acsadi, MD, PhD, division head of neurology at Connecticut Children’s, to learn more about recent developments in treatments for children with rare neurological disorders. What are […]

In honor of Rare Disease Day—which raises awareness of rare diseases and their impact on patients and families—we sat down with pediatric endocrinologist and researcher Emily L. Germain-Lee, MD to discuss her advances in the treatment and research of rare bone and endocrine disorders. Dr. Germain-Lee is the Chief of the Division of Pediatric Endocrinology […]