Melanie Varney and her husband Gabby Mason have three children. When their twin girls Indigo and Ocea were born last year, nurses, family and friends were commenting on how cute it was that Ocea’s tongue stuck out. When Melanie noticed that Ocea kept her tongue stuck out all of the time and wasn’t feeding properly, she knew something was wrong.
After scanning the internet for information, Melanie happened upon another little girl’s story, and everything she’d been fearing was right there in front of her. Ocea exhibited all of the symptoms and attributes of the congenital overgrowth disorder, Beckwith Wiedemann Syndrome (BWS).
BWS affects one in every 14,000 babies and is usually present at birth. The most common characteristics are a large body size, enlarged organs, enlarged tongue, midline abdominal wall defects and neonatal hypoglycemia.
But because most doctors are not familiar with BWS, Melanie and her husband were unable to get a confirmation of their suspicions. Desperate for a proper diagnosis, they found a geneticist in Brisbane, Australia that works with children with BWS. The family, who was living in Cairns, Australia at the time, took a trip to meet with the doctor and received the diagnosis they had been expecting. Ocea had BWS.
While the physical abnormalities of children with BWS are stressful in themselves, the most traumatic association with the syndrome is that children with BWS are at an increased risk for developing various types of tumors, particularly liver and kidney tumors, and as many as 20% of babies born with the disorder will develop cancer.
After Ocea’s diagnosis, the family moved to Canada to be closer to Melanie’s family and an expert BWS doctor in the U.S. At just seven months old, Ocea had tongue corrective surgery, and today, continues to visit the hospital every six weeks to be screened for tumors.
“Early diagnosis is integral to saving these children’s lives,” Melanie explains. “But because doctors are not recognizing the disorder at birth, children are suffering as a result. I feel like this was my calling, my purpose. To bring awareness to this disorder and offer families the support we were unable to find.”
Shortly after Ocea’s diagnosis, Melanie created the website How Big BWS, a place of information and education. She also launched the awareness campaign How Big Is Yours?, which asks people to post photos of themselves, family, friends and even pets, sticking their tongues out to show support.
“Our goal is to tell the world about this syndrome and make people aware before it’s too late,” Melanie explains. “My hope is that by spreading awareness, we can have proper screening protocols, have doctors recognize the name of the syndrome, have families feel included and feel like they have a support network out there, and above all… hopefully save some lives.”
We had never heard of BWS before being introduced to Melanie by her friend Tricia Surles. We hope that by sharing Melanie and Ocea’s story, we are able to help raise more awareness for this disorder, where early intervention can make the difference between life and death.
You can watch Melanie’s story here…
For additional information and support, visit the BWS Facebook group here.