Author: Emily Williams

Forty years waiting for a cure: ALD gene therapy trial shows early promise

Ethan, who was diagnosed with ALD when he was 9, with his sister Emily
Ethan and me, June 1977

A small piece of notepaper, folded twice, sits tucked in a slot of the secretary desk in the living room. Every so often, I pull it out, read it, then reread.

Addressed to my mom, the paper has a question and two boxes, one “yes” and one “no,” written with the careful precision of a 7-year-old.

I am sad of Ethan. You too?

A check marks the box.

Yes. Yes, I am sad too.

Learning about adrenoleukodystrophy

My brother Ethan Williams was 9 years old in the fall of 1976, when he began to lose his sight. For my parents, that winter brought an endless round of doctor visits, therapists and lab tests.

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Personalized medicine for kidney stones

Kidney stones

One in 10 people in their lifetime will have a kidney stone — a small, hard deposit of mineral and acid salts that can obstruct the drainage of urine, cause intense pain and, if not treated properly, lead to long-term kidney issues. Kidney stones are relatively uncommon in children, but the number of cases over the past two decades has risen.

The treatment for kidney stones has remained the same for decades — increased fluid intake, limited sodium intake, diuretics and potassium citrate therapy. Lifestyle factors are typically blamed for kidney stones, yet twin studies suggest a genetic component. In fact, new research supports pursuing a genetic diagnosis for this common condition, especially in kids.

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Lung transplant evaluation: How the rules may differ in children

LungsMost adult transplant centers require patients to walk a set distance in under six minutes to remain a good candidate for lung transplant. The thought is that if patients cannot meet this minimal threshold, then their chances of being able to rehabilitate after transplant are diminished. In pediatrics, this is also important. But Dawn Freiberger, RN, MSN, Boston Children’s Hospital’s Lung Transplant coordinator, says there are other factors that have to be considered.

“The walk test is just one piece of the pie,” says Freiberger.

In 2013, Freiberger co-authored a study, Pretransplant six-minute walk test predicts peri- and post-operative outcomes after pediatric lung transplantation, which became the precursor to a multicenter study with the Children’s Hospital of Philadelphia and St. Louis Children’s Hospital. The new study looks at how a child’s pre-transplant physical condition affects post-transplant outcomes.

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Accessible and affordable dialysis for children in developing countries


Children living outside industrialized nations have limited access to health care, and many children with severe kidney dysfunction do not have access to dialysis. Some developing countries have access to manual peritoneal dialysis, which requires the placement of a catheter into the abdominal cavity every one to two hours, 10 hours per day. But supplies are expensive, and many countries lack the infrastructure needed to get large quantities of dialysis fluid to children’s homes.

At the recent 2015 Boston Children’s Hospital Global Pediatric Innovation Summit + Awards, pediatric nephrologist Sara Jandeska, MD, of Rush Children’s Hospital in Chicago, pitched a portable, affordable solution: providing just the dialysis salts.

See more posts and videos from the Global Pediatric Innovation Summit.

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Storify: The science and business of cystic fibrosis

Cystic Fibrosis panelWhat happens when you put a doctor who specializes in cystic fibrosis in the same room as two biotech executives, one of whom is a ‘dadvocate’ of a teenager with CF? View the highlights and reactions to a a dynamic panel discussion at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards with Gregory Sawicki, MD, MPH, director of the Boston Children’s Cystic Fibrosis Center; David Meeker, MD, Genzyme president and CEO; Bob Coughlin, Massachusetts Biotechnology Council president and CEO; and moderator Luke Timmerman, founder and editor of The Timmerman Report.

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Aneesh Chopra: Five insights for innovators

In the mid-2000s, David Van Sickle, a researcher at the Centers for Disease Control and Prevention, had a hypothesis. He suspected asthma treatment might be overemphasizing direct patient intervention and underemphasizing broader environmental and health factors.

To test his hunch, Van Sickle enabled asthma inhalers with GPS technology and placed them in the hands of 1,000 people in Louisville, Kentucky. By tracking the time and location of asthma attacks and layering the results with open government data, Van Sickle discovered clusters of attacks in certain sections of the city — a finding that’s helping to clarify the link between asthma and environmental factors such as air quality.

According to Aneesh Chopra, cofounder of Hunch Analytics and the first-ever U.S. chief technology officer, Van Sickle — now the CEO of Propeller Health, a platform for respiratory health management — represents a new breed of health-care innovators who are using software and apps to draw insights from masses of data.

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Behind the scenes in the brain: The work and life of Beth Stevens, PhD

As far back as she can remember, neuroscientist Beth Stevens, PhD, of the Boston Children’s Hospital Department of Neurology and the F.M. Kirby Neurobiology Center, has loved science. The concept of a career in the field began to take root in high school, nurtured in part by her biology teacher — a scientist on the side — who was both encouraging and inspiring.

Today, Stevens, winner of the 2015 MacArthur “genius” grant for her groundbreaking research on microglia cells, is doing her part to inspire a new generation of scientists and show them, as she says, “Scientists aren’t just nerdy guys in white coats.”

Hover over the objects in Stevens’s office to learn more about her work, life and innovations, and read more about her science.

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The evolution of pediatric surgery

Flashback3

Nearly 100 years ago, William Ladd, MD, of Boston Children’s Hospital, helped establish pediatric surgery as a medical subspecialty. The recognition that children require unique surgical management hasn’t changed, but the instruments and procedures we use to operate on children have evolved dramatically. Here’s a glimpse of the surgical state of the art then and now.

Then

The 1920s marked the earliest use of scrub attire. White gowns, white masks and white linens emphasized the importance of cleanliness — and perhaps compensated for the dim lighting. Chloroform and ether, dating back before the Civil War, were the anesthetics of the day. Though penicillin was discovered in 1928, antibiotics were still two decades away from actual use. Imaging was limited to X-rays. It was in this setting that pediatric surgery began to evolve.

Now

Today’s operations are increasingly more precise and less invasive. Surgeons can practice on custom 3-D models of patients’ anatomy, take an MRI scan mid-operation to ensure accuracy and (at least in animals) repair a still-beating heart with a patch delivered through a vein. “GPS” systems are guiding surgeons to deep lesions through the smallest possible incisions, lasers are replacing scalpels and robots are handling complex moves. Above, surgeons operate on a child with spasticity, opening a small window in his spine and carefully stimulating each nerve before deciding which to cut.

Learn more about what’s next in pediatric innovation. Register today for the Global Pediatric Innovation Summit + Awards.

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My work, my life, my innovations: Ken Mandl, MD, MPH

Ken Mandl, MD, MPH, director of the Boston Children’s Hospital Computational Health Informatics Program, is used to seeing the world through a different lens. In high school, he began clicking photographs with his camera and developing them in a darkroom in his basement. Now, he frames subjects through the lens of epidemiology and informatics—driving discovery and care transformation through big data, apps and large-scale federated research networks.

Mandl will be one of four panelists discussing The Future of Pediatric Precision Medicine at Boston Children’s Global Pediatric Innovation Summit + Awards 2015. Read more about his life, work and innovations by hovering over the objects that surround him everyday.

Learn more about the Global Pediatric Innovation Summit + Awards 2015 and register to attend.

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Building a better hospital…with cardboard

20150713_CardboardCity-17

It’s 1 a.m. on a Wednesday. A two-year-old boy involved in a rollover automobile accident is brought into the emergency department at Boston Children’s Hospital. A scan shows fluid in his abdomen. He is becoming progressively unstable, his blood pressure plummeting despite blood transfusions. A decision is made to bring him to the operating room (OR), where a surgical team performs an exploratory laparotomy for a liver laceration and massive bleeding.

This is a test. It is one of the many tests of Boston Children’s Simulator Program (SIMPeds).

On July 13, 14 and 15, the entire seventh floor of the nearby Longwood Center became a theater, rooms with walls of cardboard became the stage, and hospital staff members became the actors. It was just one of many simulations—complete with cardboard transfusion machines, heart-lung machines and more—intended to help architects design ORs, procedure rooms, recovery rooms and other clinical spaces. These spaces will eventually make up a new 11-story, 445,000-square-foot hospital building. During the week, similar exercises also took place for a planned facility in Waltham.

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