w w w .insideH A LTO N .com | OAKVILLE BEAVER | Friday, M arch 1 7 , 2 0 1 7 | 4 Oakville family finds support at ErinoakKids Centre Marta Marychuk Oakville Beaver Staff When Avery Thornbury was eight months old, she was diagnosed with a rare genetic syndrome called a chromosomal translocation, sometimes referred to as chromosome deletion disorder. "It was devastating," said her mom, Lisa Thornbury of Oakville. "Nobody knew what to expect." As a result of the disease, a portion of genetic material is missing from Avery' s chromosome 3. She also has a duplicated section of chromosome 9, which makes this disorder so rare. The Oalrville Beaver recendy spoke with Lisa Thornbury to acknowledge Rare Disease Day On and around this day hundreds of patient organizations all over the world hold awareness-raising activities. Because Avery was a second child, Lisa says they knew the developmental milestones to look for and realized something was amiss. Avery couldn't sit up or roll over. Then Avery stopped feeding. "The early days were really hard," says Lisa adding that Avery nearly died two times. Lisa' s family doctor ordered genetic testing. While waiting for the results Avery was admitted to Toronto' s Hospital for Sick Children for "failure to thrive." She was later moved to a hospital closer to li in. Avery Thornbury has a rare genetic syndrome called a chromosomal translocation. | submitted photo home. During her stay at Credit Valley Hospital her test results came back. The Thornburys were told their daughter had a rare genetic syndrome. Over the years this disorder would result in muscular, neurological and cardiac conditions, seizures and global development delays. "We really struggled to get a diagnosis," says Lisa. Her condition is so rare that Lisa said it was hard to predict her personality At first, doctors thought she would have the same personality traits as children with autism. To help cope, Lisa started a blog. Initially the blog was set to private. But Lisa soon found that many other parents had questions and concerns, and in the spirit of paying it forward, the blog is now public: wwwforeverinmomgenes.com. In search of physical, occupational and speech therapies, Lisa contacted ErinoakKids. "It was a lifesaver," she says. "It' s one place where we feel safe and supported. The other families in the waiting room totally get it." ErinoakKids is Ontario' s largest children' s treatment centre, serving more than 15,000 children with disabilities and their families each year in Halton, Peel, Dufferin -- and for some services -- Waterloo and Wellington. Marisa Leung runs recreation programs in various locations, with ErinoakKids community partners. Leung, who has been a recreation therapist for six-and-a-half years, met Avery about two years ago in the Little Chefs Program. Currently, Avery receives treatment at ErinoakKids South Millway (Mississauga) and Burloak (Burlington) locations. Once the new see New on p. 5 Authentic Montessori at its Best - For Ages 18 mo.-12 yrs. ·An empowering curriculum that engages children ·Individual focus to define your child's learning ·Community atm osphere that makes students feel included and valued ·Creative expression allows your child to explore their own interests and talents f lr o m P ? V k'iTfUEKi<t & r a t u < : iKir -4 Proud Nominee of the 2015 Oakville Awards for Business Excellence P* FREE 1 INSTALLATION ON CABINETRY ON NEW PURCHASES ONLY Purchase $5,000 or more before taxes. Please see showroom for details. i . % o ffer ends MAR c H 3 1 /1 7 OPEN HOUSE Silt. Apr. 8th 10:00 a.m.-l :00 p.m. c c h Custom made Kitchen and Bathroom Cabinetry | Closet Systems Entertainment Units | Basement Renovations | Full Renos and More! FAIRVIEW GLEN MONTESSORI SCHOOL 9 0 5 .6 3 4 .0 7 8 1 · f a i r v i e w g l e n .c o m C reate Your D ream Look 100% Canadian Made Cabinetry Quality Craftsmanship 20+ Years Experience Visit our 6000 sqft Design Centre Call us for a FREE in Home Consultation Units 2-3 333 W yecroft Rd, Oakville T 905.844.3332 F 905.844.3334 w w w .arom akitchens.ca | info@ aromakitchens.ca