Stories about: People

Saving Vanessa part 2: Parent-driven science

DADA2 symptoms can be controlled with medications
Why did Vanessa’s mysterious rheumatologic condition cause her to have a stroke?

Two-year-old Vanessa had survived the unthinkable: two massive cerebral hemorrhages, nine days apart. Katherine Bell and her wife Nancy Mendoza felt immense relief at their daughter’s close call. But they wanted to know more. What had caused Vanessa’s strokes? Would there be more? Was the cause treatable?

The strokes were the culmination of a mysterious illness that had started with a rash. Because of high levels of inflammatory proteins in her blood, Vanessa’s rheumatologists, Pui Lee, MD PhD and Robert Sundel, MD, had given her a provisional, somewhat vague diagnosis of periodic fever syndrome.

“In rheumatology, we have to be comfortable with operating with a lot of unknowns,” Lee says.

But the strokes occurred despite three different anti-inflammatory treatments, which worked only temporarily. Bell, less comfortable with the unknowns, began searching the medical literature.

“It helped me feel calmer,” Bell says. “The more information I have, the less out of control I feel.”

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Under the hood of healthcare innovation: Jared Hawkins and the digital phenotype

Jared Hawkins Boston Children's Hospital

What does it take to change healthcare for the better? In the second of a two-part series on digital health innovators at Boston Children’s Hospital, we profile Jared Hawkins, MMSc, PhD. Like Gajen Sunthara, MSc, featured in part one, Hawkins was named among MedTech Boston’s 40 Under 40 Healthcare Innovators for 2017.

Jared Hawkins, director of informatics at Boston Children’s Innovation and Digital Health Accelerator (IDHA), brings a formidable skill set to his work. With a PhD in Immunology from Tufts University School of Medicine and an MMSc in Biomedical Informatics from Harvard Medical School, his background combines biomedical research (immunology, virology, oncology, genomics) with data science, visualization, computational modeling and software development.

His current work spans an equally diverse range of topics, touching on population and public health, patient experience, decision support and pharmacogenomics. A faculty member in the Computational Health Informatics Program, Hawkins is wired into the digital health ecosystem. He serves as a scientific advisor and co-founder of Raiing Medical (home temperature and fertility tracking) and is the head of engineering and co-founder of Circulation (non-emergency medical transportation via Uber).

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Under the hood of healthcare innovation: Gajen Sunthara and leveraging EHRs

Gajen Sunthara
(Photo: Greg Weintraub)

What does it take to be an innovator changing our healthcare system for the better? This two-part series profiles two digital health innovators at Boston Children’s Hospital who were named among MedTech Boston’s 40 Under 40 Healthcare Innovators for 2017.

Gajen Sunthara, MSc, has two innovation passions: healthcare policy and electronic health records (EHRs). With professional experiences spanning technology, business and government, he finds himself in a position to effect change in a way that few others can.

“Gajen’s passion for healthcare is evident from the moment that you meet him,” says Farhanah Sheets, a software engineer at Boston Children’s Innovation and Digital Health Accelerator (IDHA) who reports to Sunthara. “No matter how big or small the idea, he brings a level of excitement to each project that is contagious.”

As director of Innovation R&D for IDHA, Sunthara is leading significant efforts around EHR interoperability — the ability of healthcare information systems to exchange and use each other’s data. He’s also focused on creating applications that can easily be integrated into any EHR system.

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GALLERY: Forecasting the future of pediatric hematology/oncology

Title image for pediatric hematology/oncology predictionsRecently, the annual ASPHO (American Society for Pediatric Hematology/Oncology) meeting brought together more than 1,100 pediatric hematologists and oncologists, including a team from the Dana-Farber/Boston Children’s Cancers and Blood Disorders Center. Some of the delegates from Dana-Farber/Boston Children’s included:

Based on their discussions with their peers, these are their key takeaways from the meeting:

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Preparing patients and families to manage ventricular assist devices

Beth Hawkins ventricular assist devices

Children in severe heart failure sometimes have a ventricular assist device (VAD) implanted in their chest. VADs are electrically-powered heart pumps that can tide children over while they wait for a heart transplant. They can also be implanted long term if a child is ineligible for transplant, or simply buy children time to recover their own heart function.

Because problems with VADs can be life-threatening, families need extensive training in managing the device and its external controller at home. Nurse practitioner Beth Hawkins RN, MSN, FNP-C, and her colleagues in the Boston Children’s VAD Program begin the training at the child’s hospital bedside while they are still in the cardiac ICU. But despite lectures, demos and practice opportunities, the prospect of maintaining a VAD remains terrifying for many parents and children.

“A lot of families feel their child is attached to a ticking time bomb that could go off at any time,” says Hawkins. “Many say taking a child home on a VAD feels like having a newborn baby again.”

Hawkins realized that families needed more support.

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Marching because science saves lives

Timelapse video: Boston’s March for Science in 120 seconds (Credit: Kat J. McAlpine)

One definition of science: “The field of study concerned with discovering and describing the world around us by observing and experimenting.”

Another, simpler definition: “The state of knowing.”

At Saturday’s March for Science in Boston, people brandished signs defending facts, data, even the act of thinking. But with the National Institutes of Health budget under attack — a potential 18 percent cut — the most compelling signs were those that stated: “Science saves lives.”

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Science then & now: Progress that you can see

Click and drag to compare and contrast archive photos from the lab with current-day images of research at Boston Children’s Hospital.

Then, 1986: Stuart H. Orkin, MD, examines the DNA sequence of a gene.

Now, 2017: Today, Orkin is associate chief of Hematology/Oncology and chairman of Pediatric Oncology at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center (DF/BC). In this photo, he examines a rendering of a gene regulatory molecule’s structure. Orkin’s lab investigates gene regulation of stem cell development, genetic vulnerabilities to cancer and gene and other therapies for treating hemoglobin disorders. 

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Angiogenesis: The slow growth of a science

angiogenesis

Sometimes a scientific idea takes a long time to make its way forward. Angiogenesis is a case in point. As surgeon-in-chief at Boston Children’s Hospital, Judah Folkman, MD, noted that malignant tumors often had a bloody appearance. In The New England Journal of Medicine in 1971, he hypothesized that tumors cannot grow beyond a certain size without a dedicated blood supply, and that “successful” tumors secrete an unknown substance that encourages blood vessel growth, or angiogenesis.

If angiogenesis could be blocked, he argued, tumors might not grow or spread. Rather than waging a toxic chemical and radiation battle with a tumor, one could starve it into submission by shutting down its blood supply.

The idea was roundly criticized.

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Culture shock: Why poliovirus had to live before it could die

Children with polio are treated in an iron lung
Pictured here in the 1950s, polio patients breathe with the help of an iron lung at Boston Children’s Hospital.

Today, stories of polio may seem like echoes from far-away history to those born after 1979, the year that polio was eradicated in the U.S. Since then, it has been customary for children to receive four doses of the polio vaccine to protect them from ever contracting the terrifying disease also known as “infantile paralysis.”

Polio, however, still afflicts people in some areas of the world today. It causes muscle wasting and — in the most severe cases — can completely rob a person of his or her ability to move or breathe, resulting in death.

In the U.S., research efforts to create a polio vaccine lasted much of the 20th century. Although the virus was thriving and spreading among people, researchers repeatedly failed at getting poliovirus to survive in culture.

Then, one of the most crucial breaks in the fight against polio occurred in a Boston Children’s Hospital laboratory in 1949, during the heyday of polio outbreaks.

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SPG47: When rare disease research gets a push from parents

SPG47 citizen science
Robbie’s parents are spurring scientific research into her ultra-rare neurodegenerative disorder.

Spastic Paraplegia 47 doesn’t roll off the tongue. The name is complicated and challenging, much like SPG47 itself. When I tell healthcare providers my 3-year-old daughter’s diagnosis, I take a deep breath and wait for the inevitable question: What, exactly, is that?

More than 70 types of Hereditary Spastic Paraplegia (HSP) have been identified to date; almost all are neurodegenerative. At best, HSP causes distress and disruption; at worst, it has devastating, potentially life-threatening consequences. Its “pure” form impairs the lower extremities, causing extreme spasticity and weakness. Its “complicated” form — like our daughter Robbie’s — also impacts systemic and/or neurologic function. Many HSP sub-types have been diagnosed in only a handful of people worldwide, leaving affected families feeling lost and disconnected.

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