Archive for rare disease
Not all heroes wear capes: Taking on dyskeratosis congenita
When Mason Langlais argues with his sister, Jillian, he regularly repeats a mantra. “I’m the rare one,” he says. “So, you can’t treat me like this.” “Rare” and “one in a million” — those are just a few of the words his mom, Jenn, uses to describe her 7-year-old self-proclaimed super hero. It’s how she ... Read More about Not all heroes wear capes: Taking on dyskeratosis congenita
Following clinical trial, boy with Fanconi anemia transfusion free
Seven-year-old Ervis of Chicago, Illinois, is a model student with a positive attitude and a megawatt smile. His mom Ofelia calls him “un encantador” — “a charmer,” but life as Ervis knows it is not exactly charmed. Born with Fanconi anemia (FA), a rare hereditary blood disorder that can lead to bone marrow failure and cancer, ... Read More about Following clinical trial, boy with Fanconi anemia transfusion free
Which genetic syndromes can increase a child’s risk of cancer?
Inherited cancers account for at least 5 to 10 percent of all pediatric cancers. The same advances in technology that have enabled scientists to decode the human genome now allow doctors to determine when a child has been born with an error (mutation) in a specific gene that puts them at increased risk of childhood ... Read More about Which genetic syndromes can increase a child’s risk of cancer?
Making up for lost time: Living with esophageal atresia
Whether he’s riding his dirt bike, learning how to swim, playing with his dogs and cats, or herding the chickens and goats on his family’s farm, Landen Spry loves staying active and being outside. “He’s making up for lost time,” says his mother, Jolene. She isn’t exaggerating. During his young life, he’s spent nearly a ... Read More about Making up for lost time: Living with esophageal atresia
Going back to school with a chronic condition
Going back to school can be a time of excitement for many families: Your kids are looking forward to reconnecting with their friends — and you’re looking forward to watching them learn and grow. But for caregivers of children and teens with chronic or complex conditions, preparing for a new school year involves much more ... Read More about Going back to school with a chronic condition
Endocrine-oncology treatment helps teen with rare genetic condition
Felicia Walbridge has long been interested in biomedical engineering and plans on majoring in the field during college. Until recently, the teenager’s experience in this area was limited primarily to reruns of the TV show “Grey’s Anatomy.” Then, with little warning, Walbridge became the star of her very own medical drama — complete with a ... Read More about Endocrine-oncology treatment helps teen with rare genetic condition
Chemical screening suggests a two-pronged treatment for pediatric Ewing sarcoma
For children with Ewing sarcoma, an aggressive bone cancer, a combination of two different classes of drugs may work synergistically to turn off the drivers fueling this disease, finds a new study. The combination appears to be more powerful than relying on either treatment alone. The study, published online last month in Clinical Cancer Research, is the latest in a ... Read More about Chemical screening suggests a two-pronged treatment for pediatric Ewing sarcoma
When even experts can’t figure you out: CNS-restricted HLH
At first it seemed like motion sickness when 5-year-old Emily threw up after spinning around outside, or during car rides. No one thought much of it. But gradually, she also developed headaches and stomachaches. Her walking and balance started to falter. She became lethargic, and complained about something in her eye. Her face took on ... Read More about When even experts can’t figure you out: CNS-restricted HLH
Matt and Brendan: Post-op pals, for life
Eighteen-year-old Matt Freitas and 16-year-old Brendan Cogavin met as roommates at Boston Children’s Hospital, but that’s just a small part of why they’ve stayed in touch for the six years since. “Their relationship goes beyond knowing each other at their worst,” says Melissa, Matt’s mom. “Brendan is cool, smart, and tries hard at everything he ... Read More about Matt and Brendan: Post-op pals, for life
Solving genetic mysteries – in the NICU and beyond
A growing number of children with suspected genetic disorders are having their complete exomes sequenced, since it’s now often faster and cheaper to sequence all the protein-coding genes at once rather than test limited groups of genes. But even after whole-exome sequencing, 70 to 75 percent of children come away without a genetic explanation for ... Read More about Solving genetic mysteries – in the NICU and beyond