World Fragile X Day shines a spotlight on genetic disorder
Global awareness aids effort but more research is needed
The Calgary Tower will be lit up in magenta and teal on the evening of July 22 to commemorate World Fragile X Day. More than 200 prominent buildings, bridges and monuments worldwide will be illuminated to help spread the word about Fragile X Syndrome, the most common inherited cause of autism and intellectual disabilities. In addition to the Calgary Tower, a number of other Canadian landmarks will be illuminated, including the High Level Bridge in Edmonton, the CN Tower in Toronto, BC Place and the Science World Dome in Vancouver, and Niagara Falls.
What is Fragile X? It's the leading known genetic cause of autism and occurs when a single gene shuts down — a gene vital to normal brain function. Fragile X affects one in 4,000 boys and one in 8,000 girls worldwide. It can be passed silently down through generations in a family before a child is born with the syndrome.
Sometimes, more than one person in a family can have Fragile X Syndrome, and it's more common in some families than others. Kids with Fragile X often learn to talk, walk and do other things later than other kids, and they often need extra help in school.
They usually look the same as everyone else, though they may have some different behaviours and sometimes have a hard time expressing themselves. They can also get nervous or excited when a lot is going on, like at birthday parties or sporting events. They often have very good memories (they rarely forget anything), and they like to play
Fragile X Syndrome affects one in 4,000 boys and one in 8,000 girls worldwide.
jokes and laugh — a lot.
Fragile X was unknown until about a generation ago. Since that time, scientific research and medical treatments have helped make great strides in our understanding of this genetic disorder. Effective treatments have been developed to help individuals and families affected, including educational and behavioural strategies, as well as speech therapy, physical therapy and occupational therapy. Additionally, medications are now available to help manage symptoms.
More research is required and depends to a large extent on increased global awareness, especially as more clinical trials are launched and more scientists and pharma companies become engaged. Undoubtedly, further research on Fragile X will lead to more effective treatments — and ultimately a cure.
Presently, individuals diagnosed with Fragile X are cared for primarily by their families — parents, siblings and grandparents. Family physicians and educators are now supportively learning about Fragile X. Also, genetics clinics at major hospitals are providing valuable resources, helping to diagnose cases of Fragile X.
And we're fortunate in Alberta to have the Edmonton laboratory of Dr. Francois Bolduc as the newest member of the international Fragile X Clinical & Research Consortium.
The national and international networks of individuals and organizations focused on Fragile X are truly impressive. The Canadian Fragile X Foundation works with sister organizations, especially in the United States, but also with potential for collaboration with groups in Europe, Mexico, South America, South Africa, Australia and New Zealand.
World Fragile X Day is important for raising awareness and for celebrating families affected. It's also an opportunity to mark the progress being made on research and treatment. That's why, with hope and optimism, we're shining a light on this disorder by illuminating landmarks like the Calgary Tower.