Caring for Children with Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS), is a rare genetic disorder commonly characterized by overgrowth. Beckwith-Wiedemann syndrome symptoms can vary widely in severity, and can include an enlarged tongue (macroglossia), abdominal wall defects like omphalocele, low blood sugar (hypoglycemia), body asymmetry (hemihypertrophy), and an increased risk for tumors. Children with BWS require highly specialized care from a team with expertise managing this complex genetic disorder. In this video, experts from Children’s Hospital of Philadelphia explain why a comprehensive treatment approach is so important for children with Beckwith-Wiedemann syndrome.


Caring for Children with Beckwith-Wiedemann Syndrome

Ron Debiasse: When they … when they tell you, your child has a 70 percent chance of a diagnosis of something you’ve never heard of before, it’s a little scary and intimidating.

Rebecca Feldman: We were just so lost. It was a really dark moment. We went from being ecstatic to just not knowing what to do, or where to go, or anything.

Alisha Davlin: I was really convinced that she had it, because I was Googling like crazy. I found a website, and I saw a child that looks like her. I said, “Oh, I mean, there’s no … there’s no way she doesn’t have this.”

Megan Miller: To hear your child has any syndrome is, of course, scary. But, we were just glad to have a diagnosis and to be able to move forward with things now that we knew, you know, that he had Beckwith and what’s the next step from here.

Jennifer M. Kalish, MD, PhD, Pediatric Geneticist, CHOP: Beckwith-Wiedemann syndrome is a rare genetic and epigenetic disorder that affects approximately 1 in 11,000 births. BWS leads to differences in growth in different parts of the body. Because each child can be affected differently, children with BWS show a spectrum of clinical features. At the Children’s Hospital of Philadelphia, we understand the challenges in diagnosing and caring for children with BWS, and are focused on helping each family navigate these unique challenges.

Katherine Debiasse: I have a good friend of mine who is a PACU doctor, and I’d spoken to him in depth about the diagnosis and he said to us, “You need to go to CHOP.”

Ron Debiasse: I think his literal words were, “Just stop everything you’re doing and talk to CHOP.”

Katherine Debiasse: Yeah, just don’t even … it’s like don’t pass go …

Ron Debiasse: Don’t even go down the road with where you’re at …

Katherine and Ron Debiasse: Just … just go right to CHOP.

Katherine Debiasse: We made the appointment to go down to CHOP and we never looked back.

Alisha Davlin: The slogan, “Hope lives here,” just still makes me cry whenever I read it, but it really was true. It was like, now there was hope, it’s going to be OK. There’s going to be monitoring, she’s going to live a normal life, and I was like, “OK, this is going to be OK. This is going to be OK.”

Jennifer M. Kalish, MD, PhD, Pediatric Geneticist, CHOP: The clinical features of BWS have a wide spectrum of severity and characteristics. First, a clinical diagnosis is made by a physical examination of the child. Genetic testing can also help confirm the clinical diagnosis. Other characteristics are identifiable at birth and may become more apparent during the first year of a child’s life. These features can included macroglossia, an enlarged tongue that can interfere with breathing and eating; an omphalocele, which is an abdominal wall defect when some of the baby’s organs protrude outside of the body; hypoglycemia or low blood sugar can occur; body asymmetry or hemihypertrophy can occur; and children with BWS have an increased risk for tumors, and tumor screening is recommended.

Garrett M. Brodeur, MD, Pediatric Oncologist, CHOP: The protocol for screening is largely focused on two types of cancer. One is a cancer of the liver called hepatoblastoma, and another is a cancer of the kidney called Wilms’ tumor. The fact that we can do cancer surveillance in a fairly easy and non-invasive way, gives them a lot of comfort and reassurance that if something should develop, we’re likely to pick it up early when they have a much better chance of being cured.

Clinton Petty: Everybody did a great job. Everyone was always very clear and concise with what to expect as we went forward, even when it came to things they didn’t know yet. They instilled in us a confidence that when we got there, they would be able to come up with a solution. It wasn’t like they hadn’t encountered this before. Everybody knew what they were doing, and we felt part of it.

Jesse Taylor, MD, Pediatric Plastic Surgeon, CHOP: When patients and families meet Dr. Kalish and the other people who are part of our team, they’ll get that sense that we treat patients and families like an extended member of our own family. The team here at CHOP spends their time taking care of kids with specific craniofacial problems who need very highly specialized care. We’re very fortunate at the Children’s Hospital of Philadelphia to have a dedicated team of people who have specific expertise in Beckwith-Wiedemann syndrome that only a few centers in the world can provide.

Katherine Debiasse: It’s amazing because coming from two people who never heard of BWS, every nurse in that room knew exactly what it was. And in their diagnosing him or giving him some sort of care, the BWS always was a factor in how they cared for him.

Jennifer M. Kalish, MD, PhD, Pediatric Geneticist, CHOP: One of the reasons that we started developing ways to care for patients with Beckwith-Wiedemann  syndrome at the Children’s Hospital of Philadelphia is because there’s not a lot of centers out there that do a comprehensive approach to these patients. On the research side, there’s a number of unanswered questions we have about Beckwith-Wiedemann syndrome, which is why we’ve started the only active Beckwith-Wiedemann Syndrome Registry to systematically collect clinical data and samples to understand more about the unanswered questions in Beckwith-Wiedemann syndrome.

Matthew A. Deardorff, MD, PhD, Pediatric Geneticist, CHOP: I’m Matt Deardorff, I’m one of the clinical geneticist and physician scientists here at Children’s Hospital of Philadelphia. We were seeing lots of kids with hemihypertrophy, we were seeing lots of kids with Beckwith-Wiedemann, and the endocrine folks are really starting to understand some things. We’ve been able to really get this registry set up. We’ve been able to really start to identify the things that are important to families, the things that are important to understanding the diagnosis. We’ve been able to start understanding the spectrum of these children, what the mild end is that we were kind of ignoring in the past, and now we’re actually starting to kind of tweak some of these things out.

So, this has really been spearheaded by Dr. Kalish, Dr. Taylor and Dr. Brodeur, and in this context, they’ve really been able to sort out some better strategies to not only see patients, but to track patients, and really to figure outcomes down the road.

Joseph Liberti: CHOP is interested in the deeper questions, and eventually if not finding a way to stop BWS, at least finding a way to really get out the root causes with BWS and to mitigate those.

Alisha Davlin: It’s not just how do we deal with this right now, it’s if there’s any breakthroughs we’re going to hear about it first because we’re right here, right in real time at the … at the center of it.

Jennifer M. Kalish, MD, PhD, Pediatric Geneticist, CHOP: The most rewarding part about working with Beckwith-Wiedemann syndrome patients it the family and the patients, and being able to both explain to them where we are and why they’re here. But also, go with them on this journey as we’re trying to understand more and manage the individual aspects of their disorder.

Megan Miller: CHOP’s motto that “hope lives here,” I mean, it couldn’t be more true. We were given hope from, truly from the day, the first day we walked through the doors. When you put all your trust into, you know, those specialist at CHOP, and as I say right away we knew we were where we needed to be, we were in the right place, and, I mean, it shows. And he is such a happy little guy now. He has come such a long way, and that’s because of everyone at CHOP. Our lives are so much better with Finn in them and we can’t … we truly can’t imagine a life without him and, you know, it was a scary journey, but everyone at CHOP got us through that journey, and now we’re raising a happy and healthy little boy. Life is good.

Jennifer M. Kalish, MD, PhD, Pediatric Geneticist, CHOP: As a leader in the treatment of BWS, all of the specialists are here at the Children’s Hospital of Philadelphia. Our approach includes both the personnel and expertise to partner with families with BWS to accurately diagnose, to offer better understanding, and to provide the expertise to compassionately manage the futures of Beckwith-Wiedemann syndrome.

Jesse Taylor, MD, Pediatric Plastic Surgeon, CHOP: We’re going to make sure that your child has a long, happy, normal childhood. As normal as we can possibly make it. We’re going to bring to bear a set of people and techniques that are going to allow that to happen to the greatest degree possible. When it comes to Beckwith-Wiedemann syndrome there’s every reason for hope.

Alisha Davlin: I would like to say to other parents who have had a child who’s just been diagnosed with Beckwith-Wiedemann syndrome that you are going to make it, that this … this is not the end of the world, and you have found the place to help you on this journey, and it really is true that hope lives here.

Topics Covered: Beckwith-Wiedemann Syndrome

Related Centers and Programs: Beckwith-Wiedemann Syndrome Clinic, Cancer Predisposition Program, Craniofacial Program, Division of Human Genetics, Metabolic Disease Program