A local family is once again organizing an event this weekend aimed at raising money and hope.
This is the third year for the One Small Step walk in South Delta benefiting Prader-Willi Syndrome research.
Prader-Willi Syndrome (PWS) is caused by a genetic defect of the 15th chromosome and affects one in 15,000 births and one in 50,000 people. And little Ellie MacDonald, 3, is one of those people.
Prader-Willi carries a variety of symptoms, including low muscle tone, small stature, fair skin and hair colouring, hypothyroidism, sleep apnea, slow metabolism and developmental delays. Not every person with PWS will exhibit every symptom, however, they all have one — a truly insatiable appetite.
In people with PWS, a part of the brain, the hypothalamus, malfunctions and the brain never received the signal that the individual has had enough to eat.
People with PWS can never be left alone because they will go to great lengths to access and eat as much food as possible. Without strict controls on calorie intake and exercise, they can quickly become morbidly obese, which can lead to a host of other health issues, including diabetes, high blood pressure, and heart and respiratory problems.
Currently, the only treatment for PWS is daily growth hormone therapy injections and while that helps with strength, growth and brain development, it does nothing to quell the constant hunger.
"Ellie is now three. She is a force to be reckoned with, doing all the things the doctors said she wouldn't do," said mom Susanne Szabo-MacDonald. "She is incredibly active, which is so good, because we need her to burn as many calories as possible."
The little girl is limited to eating only 719 calories a day.
"It's devastating to admit the things that she will eat if not supervised," said Szabo-MacDonald. "She's been into our garbage cans on multiple occasions, and we absolutely cannot have her in the kitchen alone. On a recent road trip she asked to eat for over an hour, because the rustle of a piece of plastic made her think there were snacks to be had.
"Food is Ellie's number one thought," she said. "It's very hard to go to parties where there is food everywhere. It's hard to go to play dates. It's hard to go shopping. All in all, anywhere there is food it's going to be hard to take Ellie without worrying about a food related meltdown."
Fundraising, however, gives the family hope.
There are drugs that are currently in clinical trials that give hope that a cure for the insatiable hunger will be found.
This year's One Small Step walk starts at 1 p.m. on Sunday at the Sandpiper picnic shelter at Centennial Beach in Tsawwassen. The festivities planned include a visit from Frozen's Queen Elsa, a silent auction, face painting, healthy snacks and a walk along the seashore. The Harlow and Mary Ann Burrows Foundation have generously sponsored this year's event.
This year's fundraising goal is $25,000. With more than $16,000 already raised, that brings the local event's fundraising total to $53,900 over the last three years.
"That amount speaks volumes to the generosity of our small community," said Szabo-MacDonald. "We are so lucky to call Delta home."
This year's event also features a draw for a one-night stay donated by the Century-Plaza Hotel in Vancouver, which will be drawn from the names of everyone who pre-registers and donates or raises a minimum of $40.
For more information, or to register, visit http://onesmallstep.fpwr.org/dw/walking/location/927.
