Archive for rare disease
Adjusting to sitosterolemia took time, but Justin is now on a healthy path
After Justin Zhao was diagnosed with the rare metabolic disorder sitosterolemia five years ago, the toughest part of treatment was watching his three siblings eat chocolate when he couldn’t. Sitosterolemia is a genetic disease that causes the fatty substances, or lipids, from plant-based foods such as nuts and vegetable oils to build up in the arteries, increasing ... Read More
Genomic ‘fingerprinting’ yields better treatments for pediatric solid cancers
Genomic profiling is increasingly used for solid tumors in adults and for pediatric brain tumors and blood cancers, allowing treatments to be matched to patients’ mutations. But for children with solid tumors, genomic fingerprinting has been elusive, because these cancers are so varied and individually so rare. Therapies therefore remain non-specific: chemotherapy, surgery, and/or radiation. ... Read More
It takes a village: Creating best practices for personalized treatments
In 2019, doctors and scientists at Boston Children’s Hospital announced a medical landmark. In the space of one year, a team led by Timothy Yu, MD, PhD, pinpointed a one-of-a-kind genetic mutation in a girl named Mila with Batten disease, developed a custom drug called milasen to repair the mutation, and treated Mila with it. ... Read More
Solving neurodevelopmental mysteries, one gene, one child at a time
Suheil Day was born early, at 37 weeks. Aside from a slight head lag and mild muscle weakness, nothing seemed terribly amiss. But as the months progressed, he began having seizures. “At the age of 4 to 5 months, he started waking up screaming and crying excessively, his eyes rolling up into his head,” says ... Read More
Diving deep on epilepsy genetics
When child neurologist Annapurna Poduri, MD, MPH finished her clinical epilepsy fellowship at Boston Children’s Hospital in 2004, she was struck to find that the genetic understanding of epilepsy had changed little in the decade since she started medical school. Many questions were unanswered — and some weren’t yet being asked. Existing treatments were still ... Read More
Pleuropulmonary blastoma: Caring for Cal
Each time the UPS truck makes its way up Becky Baker’s driveway in Lyons, New York, her 3-year-old grandson, Cal, is certain there’s a package for him. Today, the delivery is in fact for Cal — but not exactly the drivable mini Jeep he was hoping for. “Those are your diapers, buddy,” his grandmother says, ... Read More
Saving Laila: Family travels from Egypt for answers about rare genetic condition
When Aya Hendawy got off the plane that had brought her from Egypt to Boston, she didn’t linger in the airport or consider which tourist attractions to visit. Instead, she took a car directly to the Emergency Department at Boston Children’s Hospital, her daughter Laila in tow. “I asked them to please try to save ... Read More
Made-to-order therapies get a boost with new FDA guidelines
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. Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just ... Read More
It’s personal: How the Boston Children’s progeria research community brought new life to an old drug
In late November, the U.S. Food and Drug Administration (FDA) approved a repurposed cancer drug called lonafarnib to treat Hutchinson-Gilford progeria syndrome, better known as progeria — an ultra-rare incurable genetic disease associated with rapid aging. On average, children with progeria die before age 15, usually the result of rapidly accelerated atherosclerosis resulting in heart ... Read More
Gene therapy’s future may be all about the bases
Gene therapy offers the possibility of a cure for many genetic disorders, especially those involving a single gene. The first kind of gene therapy used a virus to carry a corrected copy of the gene into people’s cells. When the early viral vectors used in the 1990s were found to have off-target effects, sometimes even ... Read More