It was a party like no other.
While gathered with families involved in the British Columbia Prader-Willi Syndrome Association for a recent summer get-together, North Vancouver mother of two Mandy Young experienced a counterintuitive first in her life: a party with no food.
"It's a different experience... ." she says. "It was enjoyable, we had a pool party and we had lots of fun, but it was my first party in my whole life that I've ever been to with no food." She laughs. "It was interesting."
For Mandy and her husband Alex - parents of a child with Prader-Willi Syndrome, forced to carefully manage their youngster's food intake - the party was an eye-opening step in their current journey.
Their three-year-old daughter Sophie was diagnosed with the condition, which affects one in 15,000 people, at seven weeks old. Prader-Willi is a genetic disorder typically resulting in low muscle tone, short stature, developmental problems and - most notably - a chronic feeling of hunger. It's this last issue that can potentially lead to excessive eating and life-threatening obesity. Prader-Willi is a two-stage condition in terms of its symptoms, which are caused by the dysfunction of the hypothalamus, an endocrine organ at the base of the brain. The first stage sees affected infants unable to thrive due to low-muscle tone, often requiring tube feeding. The second stage, which often starts between the ages of two and six, sees the emergence of an unregulated appetite, as those with the syndrome lack hunger and satiety cues from the brain. A further challenge is that those affected have a lower metabolic rate than normal, according to the Foundation for Prader-Willi Research Canada's website. Additional behavioural challenges can include obsessive-compulsive actions, skin picking and a difficulty in controlling emotions.
Prader-Willi, while incurable, is a spectrum disorder, with the severity of symptoms ranging from person to person. The Young family is pleased to see that Sophie is continuing to meet her developmental milestones, and has not yet entered stage two.
But the fear of what potentially awaits weighs heavily on Mandy and Alex's minds as they work together to adapt to their new normal.
Like any new North Shore mom, when her daughter was a baby, Mandy Young found herself at the West Vancouver Community Centre, arriving a few minutes early for a baby drop-in program. Unlike most newborns, however, her daughter Sophie had a feeding tube in her nose and her head was shaved.
Becoming increasingly immune to odd looks from strangers, Mandy was surprised when a woman walked up to her and exclaimed, "Oh my God, your baby's so beautiful!" It's a memory that still makes her cry.
"I said, 'Oh thank you,' and I basically told her what was wrong with Sophie. .. And she said, 'Oh really? I'm a teacher and I used to teach a boy that had Prader-Willi. I'm still friends with their family. Would you like to meet them?'" The interaction was a moment of light during a lengthy period of dark as Mandy and her husband were faced with a terrifying diagnosis regarding their firstborn's uncertain future. The stranger's act of kindness proved to be a life-changing opportunity for the couple who quickly learned that, as parents of children with rare conditions or a support network comprised of those who understand their situation is a vital lifeline.
"All my regular friends that have their typical kids, they can know me and know Sophie as best as they can, but they can never understand how it is to go through it on a daily basis," says Mandy.
The teacher, good to her word, made the introduction, and Mandy met with the West Vancouver family and their son, then 22, who had Prader-Willi.
"It was just a feeling of comfort that someone else could relate," says Mandy.
The West Vancouver family went on to help Mandy connect with the B.C. Prader-Willi Syndrome Association as well as other mothers with similarly affected children closer in age to Sophie.
"For me it was really great to see these kids.. .. I didn't want my child to be what I had read on Wikipedia," says Mandy. "I wanted to see some other kids that were functioning, because what I had read was not functioning really that well. I saw these kids and they were beautiful and great and their parents were dealing with it."
Despite her concern that Sophie wasn't moving enough in utero, a fear Mandy's doctors quickly put to rest and continued to monitor, she had a typical pregnancy. And even though Mandy had gestational diabetes and a strep b infection (and was given antibiotics during labour, which can sometimes affect babies), Sophie came into the world on March 25, 2011 at Lions Gate Hospital, seemingly unaffected.
The first sign something was wrong came at approximately 2 a.m. that night, while Mandy was sleeping. She recalls being woken up by a nurse, who told her that her baby was going to be taken to the neo-natal intensive care unit as she seemed "a little grumbly."
In the morning, the sight of their daughter shocked the new parents to their core.
"She had all the tubes of everything in everywhere and her hair was shaved and she was in an incubator," says Mandy.
Sophie spent four days at Lions Gate, then three weeks at B.C. Children's Hospital as doctors continued to run tests. "They all came back negative, negative, negative," says Mandy. As Sophie wasn't getting any worse, and her vitals were stable, she was eventually given the green light to go home. She was first transferred back to Lions Gate for a few days to ease in the transition and ensure her home hospital would be knowledgeable about her condition in the event of a potential emergency. "We just started living," says Mandy. At first, they fed Sophie with a feeding tube as she was unable to nurse, and they began to connect to various local services and programs. "Then at seven weeks, we got the dreaded phone call and they told us what was wrong. That was a whole process. Me and my husband basically shut down." Slowly but surely, the couple began to adapt to their new reality. Sophie, now three, eats normally, physically speaking, though she is on a strict diet to keep her at a healthy weight. She's been hitting all of her developmental milestones (with the exception of her speech, which is slightly delayed). They just look different than an average child's. She also started walking at 15 months - something many affected kids do much later. "She's doing so well. Our physiotherapist is always (saying), 'I don't understand. I can't explain how she is doing these things,' because she's very low-toned.. .. She's still so floppy. But she just is a fighter and just does it."
In addition to the therapies she receives, including physio and speech, Sophie is injected with a daily dose of growth hormones, and takes different supplements intended to improve muscle development. She attends daycare, as both Mandy and Alex work full time. Mandy is pleased with their support of Sophie, as daycare staff have decided to feed all the children Prader-Willi-appropriate snacks.
Sophie has yet to officially enter stage two of the syndrome, leaving Mandy and Alex in a tense waiting period. "I just worry (about) when it will happen. We, as all parents with kids with Prader-Willi, hope it is as late as possible," she says.
Sophie does at times have meltdowns - sometimes they're food-related and sometimes they're not. "We really struggle with it. Sophie is starting to ask for food, but it could partly be that now she can talk and she couldn't before.. .. She usually asks for food at appropriate times, but sometimes she'll ask for food as soon as she's finished a meal and we have to talk her through it: 'You've just eaten, you can't eat now.'" They're also working on improving Sophie's relationships with her peers. "She knows her limits. If she's feeling overwhelmed, she'll just go and sit by herself and either sing or she does some repetitive behaviours. She'll tear paper.
She tears it into teeny tiny little pieces.. .. She does that to relax and soothe herself.
"Despite her challenging diagnosis, the resilient "Sophie Bean," a nickname given to her by Mandy, is, for the most part, a happy little "girly girl." Sophie is crazy about Hello Kitty and dance parties - the Mamma Mia! soundtrack, and Mariah Carey and J.Lo albums are on constant rotation in their household. She also enjoys therapeutic horseback riding sessions and is a participant in the Special Olympics B.C. - North Shore Active Start program.
"She's very spunky, has a real big personality and she knows what she wants," says Mandy.
"It's been a part of our lives for three years and I still have a hard time wrapping my brain around it, what it's going to look like when we're in the thick of it," says Mandy.
Sophie's diagnosis continues to impact the Young family's daily living. "Our house is pretty strict with food. We don't have any food out. We only eat when Sophie can eat," says Mandy.
Mandy has heard horror stories of some children with Prader-Willi going so far as to eat out of the garbage.
The Youngs ensure Sophie is unable to gain access to their kitchen, particularly at night. About six months ago, they forget to bar her access and woke up to the sound of her opening and closing the fridge. While she didn't eat anything, "It was still an eye-opener that that was the first place she went. She didn't come to her toybox, she didn't come to see us, she went straight to the fridge," says Mandy.
With the couple's second child Cooper - who is almost two and has no health concerns - in the mix, meal times are a challenge. So too are extended family and social get-togethers. "You don't realize until you're forced not to do things with food how much food is everywhere," says Mandy. Mandy plans to continue advocating for her daughter. "My hope is that when we enter the school system in North Van that I've told my story to enough people that there will be parents who will know about Sophie's condition. .. and will be understanding of the restrictions that will have to be in place to keep her safe."
Mandy has heard of some schools locking up lunches on a daily basis as a preventative measure for affected children.
The Youngs also plan to continue supporting public awareness and fundraising initiatives. For the third year in a row, their extended family and friends will be participating in a fundraising walkathon in support of the Foundation for Prader-Willi Research, on Sunday, Aug. 10 at Sandpiper Picnic Shelter at Centennial Beach in Delta. Proceeds from the family-friendly event will support the Foundation for Prader-Willi Research, dedicated to supporting research intended to help advance the understanding and treatment of the condition. Community members are invited to participate, or to make a donation to "Sophie Bean," currently listed as one of the walk's top fundraisers, via the event website.
- One Small Step for Prader-Willi Syndrome: A fundraising walkathon in support of the Foundation for Prader-Willi Research, Sunday, Aug. 10 at 1 p.m. at the Sandpiper Picnic Shelter at Centennial Beach in Delta. onesmallstep.fpwr.org
