At the moment Sara was born, the physicians on staff went on high alert.  Sara came into the world with her abdomen exposed, tongue enlarged and protruding from your mouth, eyes bulging, extreme "lines" carved across her cheeks, and a not-so-healthy general appearance.  It was clear from the doctors who scurried to the delivery room that something was up.  The physicians showed us Sara and said they had no idea what she had.  They advised immediate surgery for the stomach and said something like, "We'll do all we can to help this little girl survive, but we're in new territory here and we can't make any promises."  We signed the surgery forms and waited.

Sara got her stomach patched up and ended up in intensive care, being post-surgical, a preemie, and a mystery to the medical personnel.  A team of physicians worked steadily for two days, calling Sara's symptoms in to colleagues and national medical centers.  Then the news came:  Sara had BWS, a "newly--identified" syndrome.  In ICU, Sara was stable, but the real verdict about her health focused on hypoglycemia.  If she was hypoglycemic, she could suffer mental impairment.  If not, she'd probably be "okay," whatever that meant.  Fortunately, Sara was not hypoglycemic.

Our first experience with our BWS baby was on the maternity ward.  As the other mothers cooed over and coddled their perfectly-formed babies, we held our little unusual looking bundle.  Nurses and other visitors looked at Sara and turned away.  It was our first of many experiences in dealing with the  "outcast" syndrome, which, for Sara, would later prove much worse than her "Beckwith" syndrome.

Well, we got our Sara home after a lengthy hospital stay and she became our special angel.  Like "Brit", described at your web site by an Israeli family, Sara could barely get her tongue around her bottle.  She managed to feed with difficulty.  She drooled at night.  We loved our little girl, and no physical imperfections could keep us from that love.  In fact, we began to learn a wonderful life lesson from Sara:  Beauty comes in unusual packages and love has nothing to do with society's definition of perfectly-formed beings.

I'll pick up the pace of the story a bit:  We decided to operate on Sara's tongue when she was nine months old.  Like Brit's parents reported, physicians back then were split on the decision to operate.  I would advise every BWS parent to have the tongue operation done.  Sara was better able to eat, sleep, and could later speak with much greater ease.  During Sara's early years, we monitored her carefully with frequent scans for Wilm's tumor, since Sara had certain kidney irregularities (typical of the syndrome). Again, we thank God that the tumors never developed.

So, onto the portrait of a little girl.  Sara was loved at home, but at school she was brutally teased.  Kids noticed her bulging eyes and lines across her face, and called her "monkey-face", mocked her, rejected her, and tormented her.  Adults who came to our house knew something was different about Sara, and they said nothing, but there was rejection in their looks.  After all, Sara still had bulging eyes, lines under her eyes, bright red cheeks, and the same "irregular" face of so many Beckwith kids.

Now, on to the good news.  The harassment Sara received in elementary and middle school made her what she is today:  fiercely independent, internally strong, outrageously stubborn, and wonderfully determined.  All you BWS parents out there need to remember that hardship usually creates strength. Your kids, like Sara, will be teased.  But hopefully, like Sara, they will emerge tougher than ever and better able to conquer life's challenges.

On to the teen years.  As Sara entered puberty, the first real signs of the BWS "overgrowth" syndrome appeared:  her breasts were extremely large for her age.  She began to wear shapeless outfits to cover up her size.  As she turned 14, we consulted a plastic surgeon, a one-of-a-kind, fantastic surgeon in Scottsdale, Arizona.  We'd be happy to share the doctor's name with those who are interested.  This wonderful physician informed us that Sara could be operated, even as a young teen.  So we had her breasts corrected, and her self-esteem improved again.

Now for the great news.  As Sara moved through her teen years, her physical features cleared up.  Her hair finally grew long and thick, covering up her slightly unusual skull shape and slightly low ears.  She lost the lines under her eyes.  Her mouth developed a normal shape.  And she became beautiful...not just to her parents, who always saw her that way, but rather to society, to her peers, and to boys!  More importantly, it soon became clear that not only had BWS not impaired her mental abilities, but rather  that she was much smarter than her peers.  In fact, Sara is known as the "young Einstein" of her school.  She has been part of an elite International Baccalaureate program, gotten almost all A's, and been accepted to the University of Chicago.  A question:  Could it be that the "overgrowth" symptoms of BWS might apply to brain cells? Could the BWS kids who are not hypoglycemic actually be more gifted that others? 

Today, my wife and I can almost close the book on the BWS chapter. Except for the future. Will Sara's kids be BWS children? Are there ways to predict BWS kids?  Are there genetic interventions in the works? And the most lingering question of all...why BWS? What is it really? How did it come to be? Why us? Why you?

So there is hope, and lot's of it, for all you new BWS parents out there. My advice:  Adore your child, and be there to support him/her as the going gets tough, particularly socially.  Also, trust that this syndrome will often work itself out and that your child may well appear and function normally in later years. 

There is little in the way of longitudinal information on the BWS kids, so if there are other parents out there with a grown BWS child like our Sara, please join me in presenting the facts. 

I join you all in your search for answers and support, and may the world learn to love our little BWS kids.

David
April 17, 2000

Please note: Some of the opinions expressed in this story are based on information given to the family at the time of Sara's diagnosis with BWS - namely nearly 20 years ago. At that time, there were many misconceptions about the long-term prognosis of children with BWS. This was due to the fact that there was very little known about BWS at the time. We now know that properly treated hypoglycemia should have no effect on the child's cognitive development (as it is only untreated hypoglycemia that can lead to low blood oxygen and subsequently possible cerebral palsy). For another viewpoint on how hypoglycemia can affect a child, please read Livia's story. Furthermore, although it is true that most BWS children do have macroglossia, the extent to which the child's macroglossia is apparent varies from child to child. Some have such slight macroglossia that it may go undetected in the absence of other features. Others have such severe macroglossia that it requires surgery in the early months after birth. Therefore, there is no reason to believe that every child with BWS should undergo tongue reduction surgery. The need for this will depend on the individual situation of each child and how much such a surgery would benefit that child. Please refer to Dr Marsh for further information if you are unsure of whether or not your child needs this surgery.