MIAMI. (Ivanhoe Newswire) — Beckwith-Wiedemann Syndrome is a genetic condition that causes excessive growth. It’s linked to birth defects and even cancer. But thanks to innovative surgical procedures, children born with BWS can now live normal lives.
“She was always sticking her tongue out in the ultrasound,” said Tracie Casserly, whose daughter, Katie, has BWS.
When Katie and her twin brother were born, her parents learned why Katie’s tongue was protruding. She had Beckwith-Wiedemann syndrome, or BWS.
“You think about are they going to live a normal life or not,” Tracie told Ivanhoe.
Chad Perlyn is a pediatric plastic surgeon at Nicklaus Children’s Hospital in Miami, Florida who specializes in BWS.
Dr. Perlyn explained, “If you have a large tongue that’s blocking the airways, you can’t breathe.”
BWS also causes asymmetrical body growth, increased risk of tumors and low blood sugar. But, there is hope.
“The thing I tell parents most is that we can fix their child,” said Dr. Perlyn.
Before the age of two, doctors surgically reduced the size of her tongue and at 13 performed two surgeries to regulate the growth of her legs. Katie also needed chemo to beat liver cancer. Still, she said she’s grateful those treatments were available.
Katie told Ivanhoe, “I don’t think I would have been accepted as much socially than I am now. I really haven’t been bullied at all.”
Today Katie is a happy, healthy 16-year old. A straight “A” student whose appearance bears no trace of the condition she was born with.
Tracie said, “If you have to have a syndrome, this is the syndrome to have.”
Sometimes the mutation that causes Beckwith-Wiedemann Syndrome is inherited and sometimes it occurs after conception. Katie’s BWS was not inherited so doctors said she would not pass it on to her children.
Contributors to this news report include: Cyndy McGrath, Supervising Producer; Robbi Peele, Field Producer; Milvionne Chery, Assistant Producer; Tony D’Astoli, Editor; Andrew Smith, Videographer.
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: BWS: Life-Changing Treatment
REPORT: MB #4139
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital condition that affects the growth of many parts of the body. It is estimated to affect one in 13,700 newborns worldwide. It is caused by a defect in the genes on chromosome 11. About 10 percent of cases can be passed down through families. As an overgrowth syndrome, affected infants tend to be considerably larger than normal and taller than their peers during childhood. Growth begins to slow around age 8, and adults with the condition are not unusually tall. However, in some children specific parts of the body on one side may grow abnormally large, leading to an asymmetric appearance. This is growth pattern is called hemihyperplasia. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some infants with BWS have an abnormally large tongue which interferes with breathing, swallowing and speaking. Some infants are born with an opening in the wall of the abdomen which causes protrusion of the abdominal organs through the belly button. Umbilican hernias, large abdominal organs, creases or pits in skin near the ears, low blood sugar, and kidney abnormalities are also common. Children with BWS are also at an increased risk for developing several types of tumors. Particularly, a form of kidney cancer called Wilms tumor, and a form of liver cancer called hepatoblastoma are common in children with this disease. Tumors develop in about 10 percent of people with Beckwith-Wiedemann Syndrome. Most children affected by this condition live free from serious medical problems and have a normal life expectancy.
(Source: https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#diagnosis, https://medlineplus.gov/ency/article/001186.htm)
TREATMENT: Most children with Beckwith-Wiedemann syndrome grow to lead normal lives following treatment. Infants with low blood sugar may be treated with fluids given through an IV. Defects in the abdominal wall need to be repaired, and for some, surgery is required. Children with hemihyperlasia are watched for the development of scoliosis. Additionally, patients with Beckwith-Wiedemann syndrome are recommended to have regular screenings in order to detect potential cancers. These screenings include abdominal ultrasound and measurement of blood alpha-fetoprotein concentration to detect issues within the kidneys and/or liver. Some children may have orthopedic needs, as leg-length discrepancies require evaluation and treatment by an orthopedist. Children with enlarged tongues should be evaluated by a plastic surgeon and have formal evaluations for potential effects on feeding, speech, and sleep. Children with severe hypoglycemia should be evaluated by an endocrinologist, and treatment may be required until this normalizes.
(Source: https://medlineplus.gov/ency/article/001186.htm, http://www.chop.edu/conditions-diseases/beckwith-wiedemann-syndrome)
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Jennifer Caminas
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
