Living With Prader-Willi Syndrome: Sophie’s Story

By Stacey Gillard

“Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as a common genetic cause of childhood obesity.

Prader Willi Syndrome was first described by Swiss doctors Andrea Prader, Alexis Labhart and Heinrich Willi in 1956…The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia at birth, insatiable hunger, extreme obesity and intellectual disability.” – Foundation for Prader-Willi Research Canada

Prader-Willi Syndrome is a rare disease, rare enough that it is more or less unknown outside of the PWS community and those who are aware of it have little to no understanding of its true scope. I remember seeing it represented in TV shows as “the disease where people don’t know when they’re full.” In actuality it is a dysfunction of the hypothalamus and its symptoms present in two stages:

Stage 1: infants with PWS are hypotonic or “floppy” with low muscle tone. They are unable to breastfeed because of a poor suck reflex and they have a weak cry. Motor milestones are usually delayed.

Stage 2: between the ages of two and six children become unable to regulate appetite, and food seeking behavior may occur. They will over-eat if not closely monitored and are prone to obesity. Children can exhibit cognitive challenges and learning disabilities. Dwarfism and scoliosis are common with PWS patients along with sleep disturbances, undescended testicles in males, high pain threshold, and infertility. Behavioral issues, including OCD symptoms, skin picking, and difficulty controlling emotions are also prevalent.

Mandy and Al Young of North Vancouver, BC, Canada, are parents to two beautiful children; Sophie, who is three and a half and two year old Cooper. Shortly after her birth Sophie was diagnosed with Prader-Willi Syndrome, something of which neither Mandy or Al had any knowledge. I recently chatted with Mandy about her experience as the mother of a child with a rare disease.

“At approximately twenty-nine weeks into my pregnancy I felt something was not quite right because I had little to no fetal movement,” Mandy explains. “I went to the doctor and was sent to the hospital for monitoring. Movement showed up on their test but I still did not feel it myself.”

Mandy was monitored weekly until Sophie was born, ten days early with a quick and easy delivery. Her Apgar score was considered normal and she was placed at Mandy’s bedside. During the night a nurse came to say Sophie was a “bit gurgly” and would be taken to NICU. Mandy had never heard the term before but it was one with which she was soon to become very familiar. In the morning Mandy awoke to find her daughter was still absent and was taken to NICU to see her.

“What I saw made me feel like the ground had been removed and I was falling into a huge hole,” Mandy recalls. “She was in an incubator, had a nasogastric (NG) tube in her nose, an IV in her belly button, her hair was partly shaved from trying to get the IV into a vein on her head with no success, she had an oxygen monitor on her foot and she wasn’t moving.”

Mandy and Al asked what had happened overnight and were told the hospital wanted to monitor her for a few days so to “get comfortable.” After three days of few answers they were told it would be best to transfer to BC Children’s Hospital for more tests and monitoring. “I thought BCCH would be this magical place and as soon as we walked in the doors they would look at my child and tell me what was wrong; that would be the furthest from the truth, I would quickly learn.”

Mandy was at the hospital every day from 9am to 10pm, crying every night when she left Sophie and panicking every morning that something had happened overnight and the hospital had been unable to get a hold of her. “That would never happen but I was a bit irrational in those early days,” Mandy admits. After three weeks a nurse – or an angel as Mandy remembers her – told the new parents that there are three outcomes for babies such as Sophie. “She told us one third will just grow out of it, one third will never find out what is wrong and one third will get a diagnosis. We were told we didn’t know what Sophie’s future would hold but she was stable and a hospital is not a healthy place for a stable baby. We should take her home and love her and watch her grow into the person she will become. So that is what we did!”

The Youngs were eventually given their diagnosis over the phone when Sophie was seven weeks old, advised to Google it and told to come to an appointment three days later with any questions they had. “It was a horrific experience that I hope no family ever has to go through again. Those were the worst three days ever and I’ve never Googled PWS since.” Soon after, Mandy crossed paths with another “angel” who put her in contact with another family who had a child with PWS. “That led me to many more families and to become Vice-President of the British Columbia Prader-Willi Syndrome Association (BCPWSA).”

When Sophie was 5 months old, Mandy and Al traveled with her to Europe just a couple of weeks after they removed her NG tube. I asked if Mandy felt challenges over and above those that other new parents would experience. “I was scared of flying and her ears popping because I thought I wouldn’t be able to get her to drink from the bottle. She amazed me and drank at every take-off and landing.” Mandy was still pumping her breast milk so they had to ensure their accommodation had a fridge but because Sophie didn’t cry yet and slept a lot Mandy and Al managed to sightsee and enjoy themselves. “We also experienced a few firsts for Sophie; she rolled over from her back to her stomach and giggled for the first time on this trip, which are amazing memories.”

Mandy notes that the impact of Sophie’s condition is wide-reaching, with a lot of extra stress and time consuming appointments; Sophie regularly sees an occupational therapist, physiotherapist, speech and language pathologist and goes to hippotherapy as well as having various specialist appointments throughout the year. But she also points out that it has brought their family together in a very positive way and she and Al get a lot of support from their extended family. “Food is seen in a completely different light now. Holiday gatherings have changed too. I believed we needed to change our family events right from the beginning to give everyone time to adjust.” Some family members adjusted better than others but Mandy explains that hot foods are kept in the kitchen and appetizers are kept out of Sophie’s eye-line. Food is much healthier now, which everyone benefits from and Mandy has considered getting Sophie a t-shirt to wear at parties when she’s older that says ‘please do not give me any food without asking my mom and dad’. “Does that make me crazy, though?!” Mandy wonders.

At home, the Youngs have structured mealtimes and nobody in the house eats unless Sophie is eating. Sophie does not have access to the kitchen and in the next home they live in they plan on having a fully enclosed kitchen with a locking door. “This may sound harsh,” Mandy remarks, “From the feedback I have received from other families it actually gives the child a sense of relief that they do not have constant access to food and a nagging desire to access it because they know they can. With a locked door they have a sense of peace to be able to play and act like a regular child.”

Sophie is currently on a high protein, low simple carb diet and Mandy has been forced to try foods she had never thought to try before, such as quinoa, chickpea flour and chia seeds. They never leave the house without packed food for Sophie in case they can’t find any appropriate choices for her.

Sophie is currently starting to exhibit minor OCD tendencies, some increased food interest and skin picking. Her speech development is also delayed. As Mandy deals with some behavioral issues from Sophie along with her inability to have things change she worries about Sophie’s brother, Cooper. “I feel he sometimes gets forgotten and lost in all the appointments and focus we have on Sophie,” Mandy says. “He is quite easy going which is helpful. I will have to work very hard to make sure he never resents his sister for the attention she requires from us.”

As Sophie heads towards school age Mandy speaks of her hopes for her daughter. “I have the same hopes that I think all parents have for their children and that would be for her to be supported by her peers and make real friends and connections. I also hope her teachers understand PWS and support her in her learning. The food exposure in school is still a huge fear for me.”

Community is hugely important for people with chronic conditions. The Youngs have been supported in the past by the Rare Disease Foundation (RDF) parent support group who meet once a month. “We all have different conditions but all our fears are exactly the same, we worry about our children and we have all had to navigate through the complicated medical system. The group of people are the only people who fully understand what that is like and to know they are there to support us is amazing. They are the type of people we could call in the middle of the night for support and they would be more than happy to help.” In Mandy’s role as Vice-President of the BCPWSA she helps new families navigate the intricacies of the medical system as well as offering daily support and organizing their annual conferences.

I asked Mandy if she feels there are public misconceptions about PWS. “I don’t think so because hardly anyone has heard of it. It is therefore my job to inform the public first on who Sophie is as a person and then second on PWS. My goal is to have her story told so many times in our community that someday I will tell a stranger my daughter has PWS and they’ll say “oh yes, I have heard of that.”

For more information about PWS:

Foundation For Prader-Willi Research Canada

Prader-Willi Syndrome Association USA

You can also watch Sophie’s video at http://onesmallstep.fpwr.org/dw/users/sophiebean/Delta2014