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HomeMy WebLinkAboutThe Citizen, 2018-07-19, Page 9THE CITIZEN, THURSDAY, JULY 19, 2018. PAGE 9. Smiths receive diagnosis through genetic testing News at last Colton Smith, centre, has been living his life under a cloud of mysterious symptoms that have greatly impacted his life. For over a decade he had been battling these symptoms with no end in sight, but the family now has some guidance thanks to a trip to the Mayo Clinic and then further research at the London Health Sciences Centre. Colton has now been diagnosed with Gluts Deficiency Syndrome, but through a strict diet, he will be able to live a long and fruitful life, which makes him and his parents Jamie and Joanne very happy. (File photo) By Shawn Loughlin The Citizen Nearly a year to the day that Blyth's Colton Smith's story was first reported on, his family has received a positive diagnosis that will see the teenager live a long and fruitful life. Colton, now 14 years old, has been struggling with a condition that first began to show symptoms when he was three years old. Over the last 10 years, his condition has left scores of doctors baffled and his health continued to deteriorate while his condition remained undiagnosed. However, after a trip to the Mayo Clinic in the U.S., Smith's condition has now been diagnosed as a rare genetic condition that only affects approximately 500 people across the globe. Smith has Glutl Deficiency Syndrome, which is the result of a mutation in the SLC2A1 gene, which regulates the transportation of glucose to the brain. With sugar being the main source of energy across the blood -brain barrier, for years, Smith's brain hasn't been getting the glucose it needs from the food he eats. While there is no cure for the condition, it can be managed through the strict Ketogenic Diet, a high-fat, moderate -protein and low - carbohydrate diet. This diet will replace glucose with ketones and provide Smith with fuel that his body is able to use. If Smith sticks to the diet, his health will remain as it is and he will be able to live a long, fruitful life. Colton's father Jamie says it's great news, especially since many of the conditions that were being considered last year suggested a high mortality rate. To be able to discuss Colton having children and how his condition will affect him decades down the road is a good feeling. The difficulty will be, Jamie said, for Colton to understand just how important it is that he adheres to his new diet, especially now that Colton is in high school. Weeks of healthy eating and progress through a positive diet, Jamie said, could be undone with one can of pop or some junk food from the cafeteria. He added that it's tough to explain to a teenager that he can't have a hamburger or candy with his friends, but that it's essential for his long- term health. Last year, the Smiths went public with their son's condition and the community came to their aid, raising thousands of dollars to help them travel to the Mayo Clinic. Jamie said that the doctor at the Mayo Clinic was "bang -on" with his diagnosis, identifying Glutl Deficiency Syndrome during their first two-hour meeting at the clinic. However, the doctor explained that the genetic testing and treatment would be too cost -prohibitive at the Mayo Clinic and advised that they return to Canada, but he provided a road map for them to diagnose Colton's illness here at home. Through testing at the London Health Sciences Centre, they found the deficient gene several months ago through research, but had to wait for confirmation through a clinical trial. This week the Smiths were due to meet with their neurologist once again in London for their next steps, which will include meeting with a dietician regularly over the course of the next year. Jamie says that if Colton's condition had been diagnosed when he was a young child, perhaps he would have been able to live a normal life from birth. However, the physical and mental challenges that he's faced over the past 10 years as a result of his condition are now here to stay. While his condition won't get any worse if he adheres to the Ketogenic Diet, Jamie said, Colton won't get any better either. The diagnosis comes after a decade of frustration, grief and sadness for the Smiths, who had to watch their son struggle with a condition that no one knew how to treat. When he was three years old and fell for the first time and couldn't get up, doctors said he simply had water in his ear and that his temporary loss of balance would pass in time. When it happened again a week later, this time Colton's fall was dismissed as the actions of a clumsy toddler. However, Colton's parents, Continued on page 19 Your Local Paper - The Original Social Media! News / Information / Events / Shopping Community / & More Posts ArletlIa/Nevn The Citizen ttiorltfliuronCittzen TIO<Itlzen shard penny Swn's past Home Evems Photos Posts Conmunrly 877 people N.. vwid. uvssmn Aeon 51,521.1.2 Co OsoetHeo.se In print, online or on the go, we are your local newspaper. We keep you connected to what's happening in our communities and surrounding areas. The Citizen www.northhuron.on.ca Facebook n www.Facebook.com/NorthHuronCitizen Twitter @TheNHCitizen info @ northhuron.on.ca The Citizen Hensall A good day www hensallco-op.ca When you ask Dave Consitt how he would describe a good day he'll tell you its a day where he has been able to add value to a producer's farming operation. That means solving problems and presenting opportunities to increase profits at any stage of the growing season. 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