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When Harper was diagnosed with Beckwith Wiedemann Syndrome shortly after birth, her family knew they wanted the best team possible for her tongue reduction surgery.
Harper now leads a limitless life thanks to Dr. Chad Perlyn, an expert in treating macroglossia, and the pediatric plastic surgery program at Nicklaus Children’s Hospital.
Learn more about the Nicklaus Children's Hospital Center for Beckwith-Wiedemann Syndrome: https://www.nicklauschildrens.org/BWS
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth. https://www.chop.edu/BWS
0:09 What is Beckwith-Wiedemann syndrome (BWS)?
0:37 Explaining DNA, genetics and epigenetics
1:34 The genetics and epigenetics of Beckwith-Wiedemann syndrome
4:48 Physical characteristics of Beckwith-Wiedemann syndrome
6:12 How doctors treat and manage Beckwith-Wiedemann syndrome
6:40 Explaining alpha-fetoprotein (AFP) testing in children with Beckwith-Wiedemann syndrome
This video from Children’s Hospital of Philadelphia (CHOP) provides an introduction to genetics and epigenetics, an explanation of the characteristics of BWS, and tips for managing BWS. The severity of this disorder varies widely in children and is usually recognized at birth.
Discovering life beyond the diagnosis.
Our son Jacob was diagnosed with a rare chromosome disorder, Beckwith-Wiedemann Syndrome. We felt scared and alone when we started our journey. I remember desperately searching for stories of other children with BWS to see their outcome because we just didn't know what to expect. Here we are, one year later, and I can't tell you how amazed I am at the difference a year makes. The beginning months are tough, but you will make it through with love, hope, and faith.
We welcome you to visit our website with information on BWS, blogs, and more:
www.mybwsbaby.com
For just $1/month, you can help keep these videos free! Subscribe to my Patreon at http://www.patreon.com/pwbmd
(Disclaimer: The medical information contained herein is intended for physician medical licensing exam review purposes only, and are not intended for diagnosis of any illness. If you think you may be suffering from any medical condition, you should consult your physician or seek immediate medical attention.)
