Caring for Children with Beckwith-Wiedemann Syndrome

Caring for Children with Beckwith-Wiedemann Syndrome

♪♪>>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.>>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.>>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.”>>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.>>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.>>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.”>>I think his literal words were, “Just stop
everything you’re doing and talk to CHOP.”>>Yeah, just don’t even …
it’s like don’t pass go …>>Don’t even go down the
road with where you’re at …>>Just … just go right to CHOP.>>We made the appointment to go down to CHOP
and we never looked back.>>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.”>>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.>>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.>>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.>>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.>>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.>>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.>>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.>>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.>>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.>>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.>>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. He is such a happy little guy now. And he’ 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.>>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.>>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.>>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. ♪♪

4 comments / Add your comment below

  1. I'm 17, and I was diagnosed at birth with BWS in the fall of 1999. Unfortunately, my family and doctors (mainly military) kind of had to play it by ear with this syndrome and deal with the symptoms as they were found. I'm glad that centers exist now that deal with this syndrome and that other families don't have to go through what mine did.

  2. My grandchild has beckwith, and she is a twin, one is quite at times is that normal

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