At war with a rare genetic disorder

Catherine Reynolds | May 24, 2017

Penny Harper is fighting a war she will never win.

The mother of a child with a rare genetic disorder, Penny knows her daughter will never live a normal life. The most she can hope for is to manage the behaviour that accompanies the affliction. It is a battle she fights every day, in a war lost to a condition without a cure. For a mother devoted to her children, it’s a bitter pill to swallow.

“When she was born, she was showing signs of failing to thrive,” says Penny thoughtfully about her daughter’s birth on Oct. 1, 2010.

“Maddy was a quiet baby, but I didn’t think anything of it at first because her older sister was quiet as well. We knew she was different soon after her birth and she came home from the hospital with a nasogastric feeding tube. I had to syringe food into her stomach, past her lungs so she wouldn’t choke.”

Born seven weeks early, Maddy Harper was diagnosed with Prader-Willi Syndrome, which causes delayed development and insatiable hunger. Shortly after she was diagnosed, her lungs collapsed; a life-threatening situation that would happen again and again.

Reeling from the severity of Maddy’s illness, the family was thrown into an unending series of medical appointments and treatments to address the absence of the paternal component in her 15th chromosome.

“She finally got to baseline when she came back to Kingston,” says Penny about Maddy’s six-week stay at Sick Kids Hospital in Toronto. “And every-other-day for a year she was at Hotel Dieu Hospital doing therapies, check-ups and studies.”

Sitting at the kitchen table with her colouring paper, Maddy is sweet-natured and loving. She smiles when her older sister Mya comes into the kitchen, trailed by their little brother Ayden.

Ayden’s father is Kyle Gordon of Battersea who manages the Creekside Bar and Grill. The children divide their time between their family in South Frontenac and their home in Kingston.

Enjoying this warm day in May, Penny smiles at the children who are scanning the counters for food. They know not to try the fridge and freezer which are secured with locks. Penny opens a cupboard and gives the children a nutritious snack to tide them over until dinner.

“There’s been a lot of issues, but we’ve been hospital-free for three years,” says Penny, a Central Reprocessing Technician at Kingston Health Science Centre.

Asked how her daughter acquired the condition, the 28-year-old brunette notes, “It’s a completely random roll-of-the-dice fluke.”

Statistics show Prader-Willi affects one in 15,000 people. It is a rare syndrome that took the family by surprise.

“At first, you’re that person in denial because you don’t see all of the symptoms you hear about,” says Penny with heartbreaking honesty. “Now that Maddy is six, I’m starting to see the behaviours they talked about.”

Because of the syndrome, Maddy is always hungry. She doesn’t have a gag reflex or sense of fullness when she eats. If left alone, she would eat until her stomach bursts. She currently weighs 100 pounds.

“I have to be on my game all the time,” Penny explains, nodding towards the locks on the fridge and freezer that were supplied by the Foundation for Prader-Willi Research.

“I left the fridge unlocked the other day and she ate six containers of yogurt.”

Placed on a strict diet, Maddy has to be constantly supervised. When she’s not, she’ll seek food including discarded items in the garbage.

“Their brain still thinks its hungry and people keep eating,” says Penny, listing complications that can follow such as obesity, Type 2 Diabetes and sleep apnea.

Looking calm and happy, Maddy can turn violent if her brain is focused on food. Because of her low muscle tone, she only requires 700-1,200 calories a day. All of her meals are based around fruits and vegetables. She loves sushi.

“She’s hysterical,” replies Penny when asked to describe what happens when Maddy wants food. “You would literally believe I’m starving my child, despite the fact that she just ate her favourite meal. She’s programmed to believe she’ll starve if she doesn’t eat. She can’t help it. She can’t control it. Her body believes it’s starving.”

To help Maddy, the family works to control the behaviours by reassuring her of the next meal and providing distractions.

“I did a lot of research quickly,” says Penny about how she learned to parent a child with this rare genetic disorder. “I got in touch with other families and asked for help.”

Determined to inform the public about the syndrome and help the Prader-Willi Research Foundation, Penny has organized a fundraiser in early July.

"I never heard of Prader-Willi syndrome before I met Maddison,” admits Kyle, Maddy and Mya’s stepfather. “It was, and still is, very hard to keep things away from her that she will eat. Penny has recently installed locks on the fridge, but Maddie has already trained her younger brother to climb the counter and get the keys from on top of the fridge. This walk and awareness that Penny has organized has been great. Not only has it raised awareness about this rare genetic disorder, it has opened doors for Maddy who was just accepted to see specialists in Toronto.”

The proud father notes, “Penny has worked hard and has even found a few other ways to help Maddison and keep her at a weight that won't be harmful to her health."

Pointing to the $50 locks on the fridge and freezer, Penny wants to return the help she received by holding a fundraiser for the Prader-Willi Research Foundation.

“The locks have really helped,” Penny says about the device that help Maddy lose five pounds the first month it was installed.

Without the locks, Maddy gained 10 pounds in two months.

“That’s basically what makes me want to do all this,” she says about the fundraiser at Lemoine’s Point.

To be held from 10 am to 3 pm, on July 8th, the community is invited to the walk called “One Small Step”. The goal is to raise $5,000.

Looking ahead, Penny knows she will be battling this condition until Maddy reaches maturity. After that, her daughter will likely go to a group home designed for people with Prader-Willi Syndrome where she can receive the help she needs.

“It will get worse,” her mother says sadly. “I’m managing it for her now, but I won’t be able to manage it forever. She won’t ever be able to manage it on her own.”

Always optimistic, Penny is focusing on her three children and a future that is brightened by a fundraiser for a good cause.

“But for now, we’re just going with the flow,” says Penny with a smile.

“I’m proud to say I’m a Prader-Willi Mom.”

To register or contribute to the One Small Step fundraiser in support of children like Maddy, please go to onesmallstep.fpwr.org