Genetic abnormality may be more common than thought

Beckwith Weidamann syndrome, or B.W.S. is the result of abnormal activity in the genes that regulate the body’s growth.

CORAL GABLES, Fla. – From the moment their 5-year-old daughter Emma was born, Crystal and Jordan Boelk knew something was off.

“Her tongue was out like 95% of the time and she was moving it from side to side,” Crystal Boelk said.

Doctors ultimately diagnosed Emma with Beckwith Weidamann syndrome, or B.W.S., which is the result of abnormal activity in the genes that regulate the body’s growth.

“And these are babies born with a very large tongue. We can also see overgrowth on one side of the body, something called hemi-hypertrophy,” said Dr. Chad Perlyn, a pediatric plastic, reconstructive and craniofacial surgeon with Nicklaus Children’s Hospital.

Perlyn said B.W.S. can also lead to abdominal wall defects, and pits or creases in areas of the skin.

He specifically addressed the oral-facial issues.

“We do a unique operation here -- we call it a ‘W’ pattern -- but it lets us adjust both the sides of the tongue and the tip of the tongue in a way that really tailors the shape for it to fit appropriately in the child’s mouth,” Perlyn said.

Testing ultimately showed that Crystal carried a gene variant for B.W.S.

“For me the ‘ah-ha’ moment was like, OK, this makes sense. I had a lot of unexplained medical issues growing up,” Boelk said.

While their 9-year-old daughter Bailie does not have the condition, 17 months ago the couple gave birth to baby Ruby, who also has B.W.S.

“For our family, it’s been hopeful, it’s been a blessing to have a diagnosis. As crazy as that may seem, we know we’re doing everything we can preventatively and that there is hope if you have the right care team and there’s peace in the long run,” Boelk said.

Along with physical aspects of B.W.S., the condition can also increase the risk of cancer, which is why identifying it early is so important.

About the Authors:

Veteran journalist Kathleen Corso is the special projects producer for Local 10 News.

Kristi Krueger has built a solid reputation as an award-winning medical reporter and effervescent anchor. She joined Local 10 in August 1993. After many years co-anchoring the 6 p.m. and 11 p.m., Kristi now co-anchors the noon newscasts, giving her more time in the evening with her family.