Archive for rare disease
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
Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his ... Read More about Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
Failed cancer drug may extend life in children with progeria
Hutchinson-Gilford Progeria Syndrome, better known as progeria, is a highly rare genetic disease of premature aging. It takes a cruel toll: Children begin losing body fat and hair, develop the thin, tight skin typical of elderly people and suffer from hearing loss, bone problems, hardening of the arteries, stiff joints and failure to grow. They ... Read More about Failed cancer drug may extend life in children with progeria
Families and data scientists build insights on Phelan-McDermid syndrome
This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window. “At first, we ... Read More about Families and data scientists build insights on Phelan-McDermid syndrome
Another use for mTOR inhibitors: Preserving vanishing bones in Gorham-Stout syndrome
The mTOR pathway is fundamental to nearly every cell in the body. It drives processes related to cell growth, protein production and metabolism, influencing everything from neurocognition to tumor growth. Because of this broad role, indications for drugs targeting the mTOR pathway are also remarkably broad. Alexander Malloy, 14, is one of the first patients ... Read More about Another use for mTOR inhibitors: Preserving vanishing bones in Gorham-Stout syndrome
Solving medical mysteries: The Undiagnosed Disease Network
At first, Corrie and Adam Mendes thought their daughter Emmie had an inner ear problem. She was late with several early milestones, including walking, and when she did walk, she often lost her balance. The family pediatrician sent them to a neurologist, who ordered a brain MRI and diagnosed her with pachygyria, a rare condition ... Read More about Solving medical mysteries: The Undiagnosed Disease Network
‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease
It was the variability that intrigued pediatric cardiologist William Pu, MD, about his patient with heart failure. The boy suffered from a rare genetic mitochondrial disorder called Barth syndrome. While he ultimately needed a heart transplant, his heart function seemed to vary day-to-day, consistent with reports in the medical literature. “Often patients present in infancy with severe ... Read More about ‘Heart on a chip’ suggests a surprising treatment for a rare genetic disease