Archive for rare disease
Shooting for the moon: From diagnosis to custom drug, in one year
Ed. note: Mila passed away in February 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. The FDA recently released a draft guidance on testing custom antisense oligonucleotides (ASOs) in patients. One weekend in January 2017, Timothy Yu, MD, PhD, was relaxing at home when his ... Read More about Shooting for the moon: From diagnosis to custom drug, in one year
Caring for immigrant children in politically contentious times
Facing public outrage, the U.S. Department of Homeland Security recently reversed their decision to end medical deferred action, a program allowing immigrants with serious illnesses to remain in the country while receiving lifesaving medical treatment. Among those most relieved by the reversal was Dr. Lakshmi Ganapathi, pediatric infectious disease specialist at Boston Children’s Hospital and ... Read More about Caring for immigrant children in politically contentious times
Hope in the shadow of Li-Fraumeni syndrome
Jake was diagnosed with his first cancer — osteosarcoma — in 2007 when he was only 16 years old. Meanwhile, his mom was being treated for recurrent cancer and his brother also would soon be diagnosed with cancer. Within the space of a few years, all three family members had died. This was not the ... Read More about Hope in the shadow of Li-Fraumeni syndrome
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
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
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