Archive for apert syndrome
No labels or limits with Apert syndrome: A letter to parents
Dear parents, If you’re reading this, your child might have been recently diagnosed with Apert syndrome and you don’t know what comes next with this rare genetic disorder that causes fusion of your child’s skull, hands, and foot bones. Or maybe you’ve been in the Apert world for a while and are looking for people ... Read More about No labels or limits with Apert syndrome: A letter to parents
Celebrating the unexpected, Miley’s family navigates Apert syndrome
Miley is the first girl born into her family in almost a generation. Hearing the delivery team announce, “It’s a girl,” is a moment her mom, Nicole, and her dad, Mike, will always remember. “We just cried,” says Nicole. “I’ll never forget that moment.” But what they also discovered at delivery was something else they ... Read More about Celebrating the unexpected, Miley’s family navigates Apert syndrome
Pieces at work: Luca’s experience with Apert syndrome
Luca Paolacci, 24, is pursuing his bachelor’s degree in mechanical engineering. It’s a serendipitous major given that it studies how pieces come together to create specific force and movement, and Luca’s personal story is a study of the opposite: how creating separation can build strength, movement, and dexterity. “It has always fascinated me how tiny ... Read More about Pieces at work: Luca’s experience with Apert syndrome
Weathering the storm of Apert syndrome: João’s story
After a “perfect” pregnancy in 2017, Natalia and Igor of Brazil were excited to meet their third child. They were shocked when João was whisked away moments after delivery. “Up until the day before he was born, everything seemed very normal,” says Natalia. “But once he arrived, we could see immediately that something was wrong: ... Read More about Weathering the storm of Apert syndrome: João’s story
Superando as dificuldades da síndrome de Apert: a história do João
Depois de uma gravidez “perfeita” em 2017, os brasileiros Natália e Igor estavam emocionados por conhecer seu terceiro filho. Eles ficaram chocados quando os médicos arrebataram João uns instantes após o parto. “Até o momento em que ele nasceu, tudo parecia muito normal”, afirma Natália. “Mas quando ele chegou, imediatamente percebemos que havia algo errado: ... Read More about Superando as dificuldades da síndrome de Apert: a história do João
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
Maisie’s story: Our journey with Apert syndrome
Our daughter Maisie is 4 years old. She loves riding her bike, baking, jumping on the trampoline, and keeping up with her older sister, Eliza. She’s also especially skilled at peeling hard boiled eggs. We learned prenatally at 18 weeks that something was going on with Maisie’s development. My doctors suspected craniosynostosis, a condition where the ... Read More about Maisie’s story: Our journey with Apert syndrome
Minimally invasive surgery safe and effective for craniosynostosis
Traditional treatment for children with craniosynostosis — a condition in which the bones of the skull grow together too early in the child’s development — usually involves an extensive open craniectomy surgery with a incision to release the fused bones. But a study from physicians in the Cleft and Craniofacial Center at Boston Children’s Hospital ... Read More about Minimally invasive surgery safe and effective for craniosynostosis