Stories about: Pediatrics

Expectation vs. reality: Rare disease parents’ mixed feelings about genetic research results

rare disease genetic resultsTypically, when you enroll in a study, it’s not with the expectation that you will receive results. In genomics studies, it’s becoming common to give families the option to get individual results — the newborn sequencing study, Baby Seq, is just one example — as an incentive to participate. Families of children with rare disease, especially undiagnosed illnesses, need no incentive: they’re desperate for answers.

But how do families actually feel once they get genetic results? We conducted interviews with nine rare disease parents (six mothers, three fathers) whose children were enrolled at the hospital’s Manton Center for Orphan Disease Research. What we found is more complexity than we expected.

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Making ‘simple’ heart surgery simpler, with minimally invasive techniques

minimally invasive heart surgeryTertiary care centers such as the Boston Children’s Hospital Heart Center have led the way in groundbreaking surgical innovations for years, pushing boundaries and correcting ever more complex abnormalities.

But innovation is also making a difference when it comes to more “common” procedures.

“We’re always trying to make the less complex procedures shorter and less invasive,” says Sitaram Emani, MD, director of the Complex Biventricular Repair Program at the Heart Center. “Making surgery and recovery less painful and disruptive for all of our patients is a priority.”

Emani and his fellow cardiac surgeons have pioneered a minimally-invasive “scope” approach, repairing a host of common problems normally requiring open-heart surgery — including ventricular septal defects, atrial septal defects, tetralogy of fallot, aortic valve defects, vascular rings and patent ductus arteriosis (PDA) — through small incisions.

The new method not only decreases pain discomfort, and scarring, but also gets patients in and out of the hospital in half the time.

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Medicine meets theater: Pediatrics training, parent practice, device innovation ‘on location’

medical simulation

Pediatric medicine just took a step for the better in Boston’s Longwood Medical Area with a new, expanded pediatric Simulation (SIM) Center — a dedicated space where doctors, nurses and other staff can rehearse tough medical situations or practice tricky or rare procedures in a clinical setting that looks and feels real.

But clinicians aren’t the only ones who will be using the new 4,000-square-foot facility, which incorporates real medical equipment, set design and special effects.

Families can get hands-on practice with medical equipment they’ll be using at home. Inventors and “hackers” can develop and test new devices or software platforms and see how they perform in a life-like clinical environment. Planned hacks, for example, will explore different medical and surgical applications for voice-activated and gesture-controlled devices.

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The face of telehealth: Serving children in health care “deserts”

pediatric telehealthAt least 15 million children reside in Health Professional Shortage Areas (HPSAs) that average fewer than one health professional for every 3,500 people. In these health care deserts, time and transportation barriers prevent even children with health insurance have trouble getting timely care, particularly specialty care. Children in poor, rural areas are most at risk.

So health problems fester and get worse — and more expensive when finally addressed.

Telehealth can solve many of these problems. Through remote video/voice/data connections, dermatologists can view images of rashes and moles sent by primary care providers; cardiologists can patch into local emergency rooms and listen to heart sounds and read EKG tracings; critical care physicians and neonatologists can see and hear newborns in distress, listen to lung sounds, read their vital signs and view images. They can advise local clinicians and guide them through next steps.

However, pediatric telehealth hasn’t been adopted as widely as it could be. A white paper presented by the Children’s Health Fund at a Congressional briefing last week enumerated the obstacles:

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Probing the link between autism, GI disorders and the microbiome

autism microbiome
(Dubova/Shutterstock)

Sonia A. Ballal is an attending physician in the Division of Gastroenterology, Hepatology and Nutrition at Boston Children’s Hospital.

Eleven-year-old Lyle has autism and doesn’t speak, but his mother is used to reading his nonverbal cues. He prefers a routine, but has always been a generally cheerful child who enjoys school and playing with his little sister.

Several weeks before I met Lyle (not his real name), his mother observed a dramatic shift. He was agitated, at times hitting his head against the wall, not receiving his typical sunny reports from school.

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Give childhood cancer a place on the cancer ‘moonshot’

cancer moonshot

Cancer remains the leading disease-related cause of death in children in the United States. Yet, when it comes to cancer research funding and drug development, pediatric cancer is often left behind, writes David A. Williams, MD, president of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, in Boston Globe Media’s STAT.

Although there are more than 150 types of childhood cancer, pediatric cancer receives only a small fraction of NIH and National Cancer Institute funding, Williams writes. Yet, he points out, just as breakthroughs in adult cancer research can help children, breakthroughs in pediatric cancer can also benefit adults.

Williams and other members of the Coalition for Pediatric Medical Research recently met with the staff of Vice President Joseph Biden, leader of the federal government’s cancer moonshot. Their message? Make sure that pediatric cancer is represented on the moonshot.

Read Williams’s STAT piece.

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20-week treatment makes life safer for kids with peanut allergy

peanut allergy

A study last week in The New England Journal of Medicine suggests that exposing infants to peanuts can provide lasting protection against peanut allergy. But what about peanut-allergic children right now? They and their parents live a life of precautions — from pre-screening birthday party menus to segregation at the school lunch table — to avoid life-threatening consumption of even trace amounts of peanut.

Now, a multicenter study reports on a protocol combining the allergy medication omalizumab (Xolair) with controlled, gradually increasing peanut consumption. After 20 weeks, most initially allergic children could safely consume the equivalent of 8 to 10 peanuts at a time. Three months after stopping the medication, most had worked up to 16 to 20 peanuts.

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Ten child health innovations headed to SXSWi

Impact Pediatric Health child health innovation
(U.S. Army/Lori Yerden via Flickr)

Innovation in pediatrics is alive and well. On March 14, at the South by Southwest Interactive (SXSWi) festival in Austin, Tex., Impact Pediatric Health will run its second annual pitch competition for digital health and medical device startups. Based on the ten child health innovations to be pitched, it promises to be as inspiring as last year’s event.

Judges include representatives from the four founding hospitals — Boston Children’s Hospital, Cincinnati Children’s Hospital, Texas Children’s Hospital and Children’s Hospital of Philadelphia — and from Sesame Workshop, whose recently announced Sesame Ventures plans to support companies that “help kids grow smarter, stronger and kinder.”

John Brownstein, PhD, chief innovation officer at Boston Children’s and one of the judges on the panel, agrees with that mission. “When it comes to innovation, pediatrics is often a second thought or gets left out altogether,” he says. “I’m extremely impressed with the landscape this year and the breadth of startup ideas.”

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Rare diseases: tools, lessons, discovery

rare diseases toolsWhen rare diseases are taken together, they’re not all that rare. Their underlying genes provide biological insights that drive therapeutic advances and often shed light on more common disorders. Thanks to advances in genomics and bioinformatics, growing interest from pharma and a burgeoning citizen science movement, rare disease is poised to rock biomedicine. This Storify recaps a Twitter chat hosted by the NIH (#NIHchat) ahead of Rare Disease Day on February 29. People shared statistics, great examples of rare disease science, directories of diseases/disease organizations and tools for patients, clinicians and researchers.

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Fertility preservation for children with cancer: What are the options?

sperm_and_egg__SebastianKaulitzki_shutterstock_1762515_800x500_Notes

More than 75 percent of children diagnosed with cancer are surviving into adulthood, leaving more and more parents to wonder: Will my child be able to have children down the road?

They’re right to be concerned. The cancer treatments that are so effective at saving children’s lives can themselves cause a host of problems that don’t manifest until years later. These late effects include particularly harsh impacts on fertility.

On our sister blog Notes, urologist Richard Yu, MD, PhD, of Boston Children’s Hospital and fertility specialist Elizabeth Ginsberg, MD, of Brigham and Women’s Hospital outline where the science of fertility preservation is going.

“It may take 15 or 20 years to develop the techniques to help a child who is 8 years old now,” notes Yu. “But if you don’t preserve something now, you run the risk of not being able to do anything for them later, which is where we are now with a large number of adults who survived childhood cancer.”

Read more about fertility preservation and childhood cancer on Notes.

 

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