Rare Disease Day
Time & Location
About the Event
Cornelia De Lange Syndrome is a rare genetic syndrome that impacts between 1:10 000 to 1:30 000 births. Because it is a rare and complex syndrome affecting all body systems it is extremely important to get an early diagnosis to enable early intervention services and treatments. Caring for an individual with CdLS requires significant family, healthcare and educational resources. Emotional and financial strains are significant on a family caring for CdLS. Accessing timely specialized diagnostic and rehabilitative services can be challenging especially those that live in smaller more remote communities. The intensity and specialization required is often not available even in larger centres, or the wait list is so extensive that optimal windows for interventions are not realized leading to suboptimal outcomes.
In Canada there are many yet to be diagnosed individuals and children with this syndrome. This can result in inappropriate medical interventions, lack of diagnostics to enable early detection of potentially life threatening illnesses and a decreased quality of life for the individual and their family. Family support is imperative to support healthy families and their ability to access services, funding and emotional support.
We will be sharing a video on CdLS that has been created by our fellow CdLS USA Foundation who have been an integral support for Canadian families in the past.