The owner of this bright, beaming smile is thirteen-year-old Briana, and there’s one important thing you should know about her:
Though she can’t express her happiness with words, as she is mostly non-verbal, the joy is written plainly on her face. And, like other children diagnosed with the rare genetic disorder Angelman Syndrome, she appears just this happy almost all the time.
It hasn’t always been all smiles, though.
For Briana’s father, an active-duty Marine since 2001, and mother, who quit her job to act as Briana’s full-time caretaker, the unthinkable came to their little family less than a year after their daughter was born.
Briana’s mom can still remember the phone call like it was yesterday. You see, following Briana’s nine-month checkup, her parents had sought out a geneticist to determine why Briana wasn’t reaching milestones. At 11 months old, she wasn’t sitting up, crawling, or making any sounds to communicate. On August 10, 2007, the doctor’s voice came through the line offering an answer that felt more like a question: Briana has Angelman’s Syndrome.
Angelman Syndrome (AS) is very rare, affecting about 1 in 15,000 people. It is sometimes misdiagnosed as autism or cerebral palsy, since they share a common genetic basis and some symptoms. AS is unique in many ways, though; lack of speech, difficulty with balance and walking, an almost always happy and pleasant demeanor, and an affinity for water all occur in most people with AS
Briana’s persistent smile and love of adventure is clear, but along with this side of AS comes a lot of uncertainty. What will Briana’s future look like?
No parent ever expects their child to be diagnosed with a rare, incurable disorder, especially when that child had a normal birth and a mostly-healthy first few months of life. But life is full of surprises and so is Briana. Her prognosis, the doctor told her mother that day on the phone, was bleak: she would never walk, never have a normal life, never get married.
Briana and her family beg to differ.
Briana’s parents weren’t interested in the limitations foretold by doctors, saying to them “don’t tell us what our baby won’t be able to do”. They tackled their daughter’s diagnosis head-on, staying hopeful in spite of this shocking diagnosis. Years and years of physical therapy, speech therapy, occupational therapy, and applied behavioral therapy were instrumental in Briana’s progress.
It seems that this bravery runs in the family, because Briana conquered her first unassisted steps at 4 and a half years old, and never slowed down from there. Now that she no longer needs her wheelchair, she and her family are soaking up as much life as possible. She stays active with horseback riding and even skiing, using a bi-ski, along with her little sister and grandmother.
But the place where Briana truly thrives is in the water. Many people with AS are drawn to the water, possibly because of the weightlessness and free mobility that comes with it. Briana would be in the water 24/7 if she could. This adventurous teenager likes to go wake surfing as well as riding the waves in a boat. She has worked hard, through so much physical therapy, to get where she is today.
There is one thing, though, that Briana isn’t able to join her family in: biking. Now that she is a teenager, her mom or dad can’t pull her in a sit-down trailer like they used to do. Briana has made so much progress since her younger years, but she still needs a special tricycle to get rollin’.
Luckily, Chive Charities is able to help, thanks to the contributions of all of our awesome donors! Briana will be receiving a Rifton adaptive tricycle that’s even better than the one she rides at her school so that she can ride alongside her little sister and her parents. Now that she has wheels, Briana is gonna be truly unstoppable! Children with AS tend to have a much lower activity level than their peers, so this trike is not only tons of fun for Briana, but is also improving her health.
Briana’s ability to ride the waves of life through highs and lows should inspire us all. Braving years in a wheelchair, then crushing the expectations set by her doctor, Briana is one strong swimmer, both in and out of the water. Thanks to the amazing Chivers like you who donate to Chive Charities, Briana feels like she’s just pulling up to the starting line of life, ready to blow everyone’s expectations out of the water.
To help more amazing kids keep swimming, biking, horse riding, skiing, and wakesurfing past the nay-sayers, donate to Chive Charities HERE!