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>> 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.
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