One of the most frightening components of a rare disease is the lack of information regarding any such affliction.
Melanie Varney knows this all too well. That’s why she’s making a video.
When her daughter, Ocea, was born one year ago – March 10, 2014 – in Australia, there was a sense something was wrong.
Ocea and Indigo, twins, were born four weeks premature, just one day before their older brother Joey’s first birthday.
“While I was in recovery I was told that Twin B (Ocea) had dangerously low blood sugar that needed to be dealt with immediately,” said Varney. “The weeks after were very stressful and I knew something wasn’t right. Ocea always had her tongue out. All the nurses, my friends and family would always comment on her ‘oh so cute tongue’. But it was not cute. It stopped her from breastfeeding, from properly latching to a bottle, and she would frequently cough and choke on it.”
Varney’s fears were realized one evening when her husband, Gabby Mason, was playing soccer.
Ocea stopped breathing.
“I had to call Emergency Services,” said Varney. “It was the scariest night of my life and the closest I came to thinking we would lose her.”
That’s when the long journey of discovery began, with some internet searching.
“I started to do my own research on latching difficulties, enlarged tongue, etcetera,” said Varney. “First I came across Down Syndrome and wondered if that is what we were dealing with, but the moment I clicked on a Beckwith Wiedemann Syndrome forum, I knew. I just knew. She had all the characteristics, including low blood sugar at birth, prominent stork mark (or angel kiss) on forehead and back of head, enlarged tongue, and enlarged belly.”
Beckwith Wiedemann Syndrome is classified as an overgrowth disorder, affecting approximately one in every 14,000 babies. The most common features are a large tongue, an abdominal wall defect and increased growth, although the list includes many other symptoms.
While Varney was sure of Ocea’s affliction, getting others – especially doctors – to agree with her was not so easy.
“I took her straight to a GP and he quickly dismissed my worries after Google imaging the syndrome in front of me,” said Varney. “Then I saw a pediatrician who did much the same. After that it was an endless fight for a diagnosis. I was her voice. I had to advocate for her. No one thought she had it, I mean no one. I think deep down Gabby knew, but he tried to stay strong for me and get me not to worry.”
Then came what Varney described as the “final straw”.
“I saw the fourth GP and he told me I was ‘chasing a fantasy’ and ‘of course she doesn’t have BWS,’” she said. “He proceeded to tell me I was stressed out with three children under one year old, and might want to try antidepressants and counselling.”
Varney joined an online support group and through that group, she was told about a specialist in Brisbane.
She made an appointment with him and finally found an ally.
“He took one look at her and diagnosed her on the spot,” said Varney.
Then came the crushing blow.
While the physical abnormalities are stressful in themselves, the most traumatic association with the disease is that children with BWS are at risk for developing various types of tumours. The Brisbane specialist laid it out for Varney.
“He said words like one in four will get cancer and 20 per cent of children don’t survive infancy,” she said. “I was relieved that we got a diagnosis, but the words ‘cancer, cancer, cancer’ kept playing in my mind. This is when her journey really began.”
Ocea was screened for cancer and the news was good. She continues to get six weekly blood tests and three monthly ultrasounds to screen for cancer. She follows the proper protocol that Dr. Beckwith recommends in order to catch the tumours as early as possible. Varney said the aggressive screening process is necessary, because of the nature of the tumours.
Ocea had tongue surgery at seven months old, with the majority of the funding coming from a crowdsourcing campaign, which raised in excess of $22,000.
It was that outpouring of support that spurred Varney into giving something back.
“I knew I had to do something in return. This was my calling, my purpose,” said Varney, who grew up in Courtenay, and moved back to the Comox Valley with her family in August.
“I am so passionate about helping these kids. I don’t want parents to feel so isolated when they get a diagnosis. I will do everything in my power for the rest of my life to do my best at helping spread awareness and working towards learning more about BWS. Not just for Ocea, although she’s obviously my main reason, but for all the other kids too. I have become so close and attached to so many of the parents and children in my support group.”
Varney is developing a website (howbigbws.com) and has an awareness event planned for March 14, from noon to 3 p.m. at the Komoks First Nations admin building on Dyke Road, which will feature local musicians, coffee, tea, sweets, and nibbles.
She is also in the process of producing a video to raise awareness of the syndrome. Filming for the video will be done at the March 14 event.
Capture the Moment in Media, a Vancouver company owned by Mat Collings of Courtenay, has offered to do the filming of the video.
“I am very passionate in my pursuit of awareness surrounding this syndrome,” said Varney. “One in 14,000 babies are born with BWS. There are seven billion people on this planet. Those numbers equate to 500,000 people living with this syndrome and hardly any research or awareness is currently underway.”