Pediatric Cancer Survivor Still Flourishing a Half-Century Later

When Susan Villanueva was just 11 months old, she was diagnosed with cancer. It took her a long time to come to grips with her experience — but more than 50 years later, she is serving as inspiration for patients, survivors, and beyond. In 1969, Villanueva was originally taken to the hospital to address symptoms … Continued

What is Shwachman-Diamond Syndrome and How is it Treated?

Classified as a form of bone marrow failure, Shwachman-Diamond syndrome (SDS) is a rare, inherited condition that is usually diagnosed in children but is increasingly diagnosed in adults. The frequency of SDS is unclear, but is estimated to affect about one in 75,000 people. SDS is characterized by inadequate production of pancreatic enzymes, which are … Continued

What is the Difference Between Gene Therapy and Immunotherapy?

Gene therapy and immunotherapy are both types of treatment for cancer and other diseases, and they have some points at which they intersect. But ultimately they represent different approaches to disease therapy. Most diseases aren’t caused by a single mutant gene — an alteration in the DNA sequence — but some mainly rare, inherited disorders, … Continued

What to Consider When You’re Picking a Pediatric Cancer Surgeon

As a parent or caregiver, it’s only natural for you to want the best for your child. But when it comes to a cancer diagnosis, specifically one that requires surgery as part of treatment, how do you know what the “best” is?  Here are five things to consider when you’re selecting a pediatric surgeon. Expertise … Continued

Tips for Coping with a Cancer Recurrence

In some cases, despite a cancer care team’s best effort, cancer comes back after treatment. This is known as a relapse or recurrence. The news can have a similar emotional impact to a patient’s initial diagnosis; patients may experience shock or feel overwhelmed. Everyone’s experience is different, and the most important thing you can do … Continued

What are the Signs and Symptoms of Pediatric Leukemia?

Leukemia is a type of cancer of the blood that develops in the bone marrow. The disease is the most common type of childhood cancer, and it typically presents in children between the ages of two and six. Still, the disease is rare in children; leukemia is most commonly seen in adults.    Subtypes of … Continued

Athlete Getting Back on the Field After Low-Grade Glioma

This post was originally published on Thriving, Boston Children’s Hospital’s pediatric health blog. It started with muscle aches in her shoulders, almost like spasms, while she slept. The pain was awful, and nothing seemed to bring relief. But because Erin Holmberg is a varsity three-sport athlete—soccer, basketball and track—everyone assumed it was muscular pain caused … Continued

What is an Alpha-Fetoprotein (AFP) Tumor Marker Test?

Tumor markers are substances in the human body that are produced by tumors and secreted into the blood, urine, or other bodily fluids. Certain benign conditions can also raise these markers, but significant elevations or a progressive rise can indicate a malignant process.  An AFP, or alpha-fetoprotein, tumor marker test—one of many different types of … Continued

50-Year-Old Mystery Solved—With Clues to Making More Red Blood Cells

This post was originally published on Vector, Boston Children’s Hospital’s science and clinical innovation blog. Back in the 1950s, doctors began using steroids to treat Diamond-Blackfan anemia, or DBA, a severe condition in which patients cannot make enough red blood cells. There was no real rationale for using steroids, but there was no other good option, … Continued

Overriding Resistance to Epigenetic Inhibitors in Neuroblastoma: Targeting PI3K

This post originally appeared on Vector, Boston Children’s Hospital’s science and clinical innovation blog. Children’s cancers pose unique challenges. They’re not caused by the same kinds of genetic mutations that cause adult cancers, and only a minority of their mutations can be targeted with drugs. In a recent study, Kimberly Stegmaier, MD, at Dana-Farber/Boston Children’s Cancer … Continued

Now in Remission, Pediatric Cancer Patient is Inspiration for Her Family

Kids often rely on their parents for inspiration, but for Kevin and Becky McAvoy, it’s their five-year-old daughter Avery who provides the spark. Avery was less than a year old when she was diagnosed with metastatic neuroblastoma, the most common type of cancer in infants. Her cancer contained an anaplastic lymphoma kinase (ALK) mutation. The … Continued

Parents of Two-Year-Old Hepatoblastoma Survivor Enjoying Every Milestone

Steph and Jake Holbrook know the date of every important moment in their son’s life: William’s first steps, his first words, and even his first Boston Red Sox game. Another date they’ll forever remember: Jan. 17, 2018, when they were told that William—then 10 months old—had a rare type of liver cancer. “I couldn’t believe … Continued

Signs and Symptoms of Pediatric Kidney Tumors

The majority of people are born with two kidneys, which are located on each side of the spine below the ribcage. They filter blood and make urine, and also produce hormones that regulate blood pressure, generate red blood cells, and help maintain strong and healthy bones. Pediatric kidney (renal) tumors occur when malignant (cancer) cells … Continued

After 80 Years, Genetic Causes of Diamond-Blackfan Anemia Come Into View

This post was originally published on Vector, Boston Children Hospital’s science and clinical innovation blog. In 1938, Louis K. Diamond, MD, and Kenneth Blackfan, MD, at Boston Children’s Hospital described a severe congenital anemia that they termed “hypoplastic” (literally, “underdeveloped”) because of the bone marrow’s inability to produce mature, functioning red blood cells. Eighty years … Continued

Pediatric Leukemia Survivor Having a Ball After CAR T-Cell Therapy

After undergoing a promising new treatment for acute lymphoblastic leukemia (ALL), Cole Malone is back to doing what he loves: playing on a flag football team with his twin brother, Michael. Cole and Michael Malone, who are 14, already know plenty about teamwork. Michael served as a perfect-match donor when Cole underwent a stem cell … Continued

CRISPR-Cas9 Screen Opens New Targets for Ewing Sarcoma, Other Childhood Cancers

This post originally appeared on Vector, Boston Children’s Hospital’s blog. While the genetic mutations driving adult cancers can sometimes be targeted with drugs, most pediatric cancers lack good targets. That’s because their driving genetic alterations often create fusion proteins that aren’t easy for drugs to attack. “This is one reason why it is notoriously hard … Continued

ctDNA: Bringing ‘liquid biopsies’ to pediatric solid tumors

This post originally appeared on Vector, Boston Children’s Hospital’s blog. Our blood carries tiny amounts of DNA from broken-up cells. If we have cancer, some of that DNA comes from tumor cells. Studies performed with adult cancers have shown that this circulating tumor DNA (ctDNA) may offer crucial clues about tumor genetic mutations and how … Continued

New Research Effort Aims to Improve Treatment for Sickle Cell Disease

Emmanuel “Manny” Johnson, Jr., shares many loves with his little brother, Aiden—from basketball to video games. One thing he wishes they did not share is sickle cell disease (SCD), so Manny is playing a role in a new effort to improve treatment for patients like seven-year-old Aiden, himself, and others living with the inherited blood … Continued