Imagine being born with an oversized tongue that makes breathing and eating a constant chore. Imagine starting life with an oversized pancreas that pumps an excessive amount of insulin, creating a wide range of unexpected health issues.
In fact, try to imagine being born with an abnormally large organ of any kind – tongue, liver, kidneys – and how this might affect your life.
Children with Beckwith-Wiedemann syndrome, otherwise known as BWS, live with these challenges every day. And it’s not the only health concern they face.
They’re also at a much higher risk of developing childhood cancer.
St. Baldrick’s Scholar Takes on BWS, Cancer with New Research
Today, BWS remains a rare condition, affecting 1 in 10,540 people. But for the kids with this condition – which was first uncovered by Dr. J. Bruce Beckwith and Dr. Hans-Rudolf Wiedemann in the early 1960s – there’s a huge need for research that brings hope for the future.
Enter St. Baldrick’s Scholar Dr. Jennifer Kalish, a physician and researcher at Children’s Hospital of Philadelphia. Trained as a geneticist, rather than as a pediatric oncologist, Dr. Kalish took an interest in BWS when she met a young girl with the condition during her fellowship years.
“It all started with a very interesting patient,” Dr. Kalish said. This 1-year-old baby girl developed cancerous tumors and was diagnosed with BWS. Thanks to screening by Dr. Kalish and her colleagues, the tumors were found and removed before it was too late. (Today, the child is happy and healthy.)
Since then, Dr. Kalish has dedicated much of her time to exploring BWS and its unique links with childhood cancers, specifically a kidney issue called Wilms tumor and a type of liver tumor called hepatoblastoma.
Genetics a Key Part of Explaining BWS
Dr. Kalish has, in some ways, been able to excel at her research precisely because of her background in genetics. That’s because BWS is directly linked to abnormalities in the genetic makeup, with the condition taking shape as the human embryo develops.
BWS arises when irregularities emerge on the genes on chromosome 11 – genes that help us grow.
“Normally there’s a balance of the signals from mom, which are normally signals not to grow, and signals from dad, which are signals to grow, and that balance gives you normal symmetric growth,” Dr. Kalish said.
“With BWS, that balance is basically tipped, so there’s too much growth signal, or not enough of the don’t grow [signal].”
Because changes in these genes often occur only in some cells, BWS is often referred to as a “mosaic condition,” meaning it presents in a wide variety of ways. It means one child may have an oversized pancreas, while another must cope with an abnormal tongue or kidneys.
Exploring the Link Between BWS and Cancer
Dr. Kalish wants to figure out why so many young people with BWS end up developing childhood cancer. Thanks to funding from the St. Baldrick’s Foundation, she has made huge strides.
“It’s been extremely critical,” Dr. Kalish said of her support from St. Baldrick’s. “As you transition into faculty positions and are establishing a laboratory and your own research program … to have funding for research with a St. Baldrick’s grant is absolutely crucial.”
According to Dr. Kalish, one of the many outcomes of the St. Baldrick’s support has been the development of national guidelines that healthcare providers can use with BWS patients to help detect tumors before they have a chance to spread – helping catch them earlier and boosting kids’ chances for survival.
Building Upon a Strong Foundation with Support from St. Baldrick’s
Today, Dr. Kalish continues to focus on the links between BWS and cancer, hoping to not just help kids with BWS who develop cancer, but also kids with other childhood cancers that have similar genetic links.
“I think the field of oncology is shifting more towards understanding the genetics behind it, which gives me the opportunity to use the skillset that I have,” Dr. Kalish said.
Looking ahead, Dr. Kalish is excited to ramp up her research thanks to the support of St. Baldrick’s.
“The continuing support for another year of funding allows us to basically expand the program we set up … and accomplish what we’re trying to do, which is gather research and data on hundreds of patients,” Dr. Kalish said.
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