After the birth of her third child, Tara Whaley was told her baby had Prader-Willi syndrome, a rare disease affecting just 350,000 people or 1 in 15, 000 births. The 45-year-old fashion designer shares her story, including how the condition has affected her family’s lives and her fears and hopes for the future.
It all started after Tara’s baby, Saoirse, was born.
“I gave birth to Saoirse at 36 weeks, she was floppy with low muscle tone and no sucking reflex and had to be fed by a feeding tube through her nose,” she says. “I thought she was just premmie and needed a bit of time to wake up.”
Tara later learned about the rare, little-known condition of Prader-Willi Syndrome.
It’s a genetic disorder that results in a range of physical and mental health symptoms, but it’s most known for causing an insatiable hunger in those with the condition. Many with the condition will struggle maintaining their weight and health throughout their lives, along with experiencing delayed growth and development as many have a lack of growth hormones, leading to shorter height and poor muscle tone. Delayed development of motor function with children crawling, sitting and walking at later stages than their peers is another common sign of the condition – but it was not long after Saoirse’s birth that Tara knew something was wrong.
“At 1 week old after all her blood work and CT scans came back clear, the doctor mentioned a condition called Prader-Willi Syndrome, he just sprung it on me when I was my own in Saoirse’s room in special care, I was absolutely devastated. I had heard of it but didn’t really know what it was, they sent the blood tests away and 4 weeks later the test confirmed Prader-Willi syndrome.”
Tara says the lack of awareness around the condition contributed to a less-than-stellar experience in hospital, with medical professionals giving unhelpful and misleading guidance.
“It was very hard in the hospital as Prader-Willi syndrome is a very rare genetic condition affecting 1-15000 births not an awful lot is know about it,” Tara shares. “My doctor told me I would never be able to go back to work and would have to care for Saoirse as she would never go to day care or school which is simply not true, there is a lot of misinformation about Prader-Willi syndrome online.
“So, for me it was a negative experience because they just told me the really bad things and none of the positives, which left me very upset and scared for her future.”
While there is no cure for the condition at the moment, research shows that the lives of those with Prader-Willi can be drastically improved by early diagnosis and the careful management of symptoms – this is why awareness and proper understanding of the condition is so important. Leaving patients without hope, as Tara experienced at the hospital, can be disheartening and unhelpful for those looking to prepare to look after a child with the syndrome.
Many people with children with Prader-Willi will have to monitor their child’s food consumption as they are prone to overeating and addiction. Tara shares her concerns around this aspect of the condition.
“Prader-Willi syndrome is a spectrum disorder so we won’t know how many symptoms Saoirse has till she gets a bit older, my biggest concern is the Hyperphagia, the desire to eat, is overwhelming,” Tara says. “They are in consistent pain as they feel like they are starving, we will have to constantly monitor her, we may even have to lock the fridge and pantry to stop her stealing food, she will be on a strict diet her entire life.”
This hunger is one of the biggest symptoms associated with Prader-Willi syndrome is the excessive, and it tends to start at around 2 years of age. Because people with the condition don't get that signal from their brain telling them they're full, they have to urge to keep eating, and this often results in weight gain and obesity, along with disordered food behaviours like hoarding, eating rubbish and consuming excessively large portion sizes.
“People with Prader-Willi syndrome have a much slower metabolism, they only need 60% of the calories that you and I need, so they need to make sure they eat good quality wholesome foods,” Tara says. “Sugar and sweeteners (natural or artificial) are a big no no.”
Sugar is a major concern for those with the condition – especially considering it’s already addictive enough for people without Prader-Willi as it triggers the release of dopamine, but, as Tara says, in those with the syndrome, it can “bring on hyperphagia”, the word for excessive eating, as these foods “set off receptors in their brain that make them want to eat more.” But it’s not just the hunger and cravings that have Tara concerned for her baby’s future – symptoms like scoliosis, sleep apnea, skin picking, infertility and a scarily low life expectancy of 30-35 are all associated with Prader-Willi.
“Other things I worry about are will she have friends, will she walk and talk, go to normal school and live an independent life, also how it will affect our family as a whole, we will all have to make big dietary changes,” she says.
While the symptoms around eating are most well-known, like Tara says, there are a number of other debilitating symptoms, from the physical to psychological side of things. People with Prader-Willi syndrome often have behavioural issues, including anger when food is withheld, along with stubbornness or stress during changes to routine. Those with the condition are also more likely to develop anxiety, obsessive-compulsive disorder and other mental health issues. Some also experience intellectual disabilities with impaired cognition, problem solving and reasoning skills, along with speech problems, including difficulty articulating words.
While awareness around Prader-Willi syndrome is lacking, Tara found support groups online to play a more significant role in disseminating essential information around the condition.
“Without these support groups I would never have known which specialists I need to see and the latest treatments available, something the doctors at the hospital didn’t know anything about.”
Tara has hopes for the future and the growing awareness that organisations like the Prader-Willi Research Foundation are fighting for, but she says we’ve got a long way to go.
“The Prader-Willi Research Foundation Australia was a great help and support to me, they had a wealth of positive knowledge, and are doing great things to find a cure for this condition, but it will take money to conduct their research so they are always trying to create events to raise money this is why we need to raise more awareness for this condition,” Tara says.
“Prader-Willi syndrome is a cruel disease, these poor kids go through so much but at the same time they will also bring so much joy and happiness to everyone around them. We hope one day they will find a cure; this would mean the world to so many of us in this situation.”
You can donate to the Prader-Willi Research Foundation Australia and support their goals for improved research and awareness efforts by visiting their website HERE.