One local family is taking many small steps to raise money for research into a little-known genetic disorder.
This is the fourth year for the One Small Step for Ellie walk in South Delta. The annual event raises money for research into Prader-Willi Syndrome. Prader-Willi Syndrome (PWS) is caused by a genetic defect of the 15th chromosome. It affects one in 15,000 births and one in 50,000 people, and fouryear- old Ellie MacDonald 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.
Every case is different and not every person with PWS will exhibit every symptom, except one - an insatiable appetite. In people with PWS, a part of the brain, the hypothalamus, malfunctions and the brain never receives the signal that the individual has had enough to eat.
People living with PWS can never be left alone because they will go to great lengths to find and eat as much food as possible. Without strict controls on food intake and exercise, they can quickly become morbidly obese, which can lead to a whole host of other health issues, including diabetes, high blood pressure, and heart and respiratory symptoms.
"Ellie is doing really well right now, the summer has been a great time to keep her active and outside," said mom Susanne Szabo. "We're concerned about the fall, when going outside becomes more challenging with the weather, and it becomes more difficult to keep her moving."
And the little girl's hunger is getting worse. "We really have to watch what she eats at this point, as her hunger is the most pronounced it has ever been."
Fundraising gives the family hope that a treatment for the insatiable hunger will be found. This year's One Small Step for Ellie event is set for Saturday, Sept. 5 at 10 a.m. at Centennial Beach in Tsawwassen.
Registration starts at 10 a.m. at the Sandpiper Picnic Shelter and the walk is set for 11 a.m. The festivities will include face painting, a silent auction, door prizes, T-shirts and bracelets, as well as a visit from Frozen's Queen Elsa. The family is hoping to raise $25,000 this year.
For more information on the upcoming fundraiser visit http://onesmallstep. fpwr.org/dw/walking/location/ 1285.
