Stories about: People

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:

Read Full Story | Leave a Comment

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.

Read Full Story | Leave a Comment

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.”

Read Full Story | Leave a Comment

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. 

Read Full Story | Leave a Comment

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.

Read Full Story | Leave a Comment

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.

Read Full Story | 1 Comment | Leave a Comment

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.

Read Full Story | Leave a Comment

Science Seen: Disrupted developmental genes cause ‘split brain’

split brain syndrome
The two halves of the brain on the right, from a patient with the DCC mutation, are almost completely disconnected. The mutation — first recognized in worms — prevents axons (nerve fibers) from crossing the midline of the brain by interfering with guidance cues. Image courtesy Ellen Grant, MD, director, Fetal-Neonatal Neuroimaging and Developmental Science Center.

Tim Yu, MD, PhD, a neurologist and genomics researcher at Boston Children’s Hospital, was studying autism genes when he saw something on a list that rang a bell. It was a mutation that completely knocked out the so-called Deleted in Colorectal Carcinoma gene (DCC), originally identified in cancer patients. The mutation wasn’t in a patient with autism, but in a control group of patients with brain malformations he’d been studying in the lab of Chris Walsh, MD, PhD.

Yu’s mind went back more than 20 years. As a graduate student at University of California, San Francisco, he’d conducted research in roundworms, studying genetic mutations that made the worms, which normally move in smooth S-shaped undulations, move awkwardly and erratically.

Read Full Story | Leave a Comment

With no time to lose, parents drive CMT4J gene therapy forward

CMT4J
Talia Duff’s disorder, CMT4J, is a rare form of Charcot-Marie-Tooth. It has been modeled in mice that will soon undergo a test of gene therapy, largely through her parents’ behind-the-scenes work.

In honor of Rare Disease Day (Feb. 28), we salute “citizen scientists” Jocelyn and John Duff.

When Talia Duff was born, her parents realized life would be different, but still joyful. They were quickly adopted by the Down syndrome parent community and fell in love with Talia and her bright smile.

But when Talia was about four, it was clear she had a true problem. She started losing strength in her arms and legs. When she got sick, which was often, the weakness seemed to accelerate.

Talia was initially diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), an autoimmune disease in which the body attacks its own nerve fibers. Treated with IV immunoglobulin infusions to curb the inflammation, she seemed to grow stronger — but only for a time. Adding prednisone, a steroid, seemed to help. But it also caused bone loss, and Talia began having spine fractures.

“We tried a lot of different things, but she never got 100 percent better,” says Regina Laine, NP, who has been following Talia in Boston Children’s Hospital’s Neuromuscular Center the past several years, together with Basil Darras, MD.That’s when we decided to readdress the possibility that it was genetic.”

Read Full Story | Leave a Comment

Honoring rare disease ‘citizen scientists’

citizen scientists

The global theme of this year’s Rare Disease Day (February 28) is research, and in keeping with that, we salute a very important group of people: citizen scientists. These can-do patients and family members are putting previously undiagnosed rare diseases on the map and driving the search for treatments. Citizen scientists play multiple roles: They keep scientists focused on therapeutic development, conduct online research to connect ideas, set up patient networks and data registries, raise money and start companies. They’ve earned a voice in clinical trial design and were instrumental in the passage of the 21st Century Cures Act.

Meet a few citizen scientists who have inspired us recently.

Read Full Story | Leave a Comment