Canadian CdLS Awareness Foundation

Awareness: We raise awareness through active public social media accounts on Instagram and Facebook that raise awareness of Cornelia de Lange Syndrome its diagnosis management and treatment as well as new research and the work and new programs and services of the foundation. We raise awareness on LinkedIn with a specific reach to geneticists pediatricians and children’s hospitals to raise awareness on the accurate and timely diagnosis of CdLS. We have We have a CdLS Podcast on Apple Podcasts and other podcast venues that shares information stories research and new advances in CdLS. We raise awareness among CdLS Families through private Facebook groups (provincial and national) as well through our Wix website App where families can share freely and privately among other CdLS Families across Canada. Diagnosis: We have recruited a Canadian CdLS geneticist that is specially trained in CdLS who is supporting the diagnosis of all Canadians with a clinical diagnosis of CdLS to get a molecular diagnosis. We have created shared a 'Know Your Genes' brochure and distributed it widely across Canada through genetics clinics and families and their care providers to advance the accurate diagnosis of this rare syndrome. We provide referrals to our geneticist who functions in the role of a Clinical Advisor- Geneticist for all clinicians and families across Canada to provide support in accessing molecular testing and achieving an accurate diagnosis. Education: We provide regular education materials to families by sending every family and their clinical team (via email and by Canada Post) a comprehensive orientation to CdLS the medical management of CdLS and supportive educational materials to ensure families are able to care and advocate for their loved one with CdLS. We provide regular virtual education sessions on various topics relevant to CdLS we join regular school meetings to provide advocacy and education at school IEP meetings. We send our clinical advisors and CdLS Families to the United States CdLS Conference and Clinics to ensure we are building the expertise and competence of our Canadian physicians as well as families.

Support: We provide 7 day a week virtual support to all Canadian families across Canada when they are in need of support have questions need access to care or other questions regarding the care of their loved one with CdLS. We also provide 7 day a week support to clinicians across Canada who have questions about the medical management of CdLS. We provide in person CdLS family gatherings regularly. We provide home and group home visits to provide support and education to caregivers those with recent diagnoses those who have reached out requesting a visit and those that are perhaps struggling with the management of the individuals with CdLS. Annually we send adults diagnosed with CdLS to the US CdLS Centre of Excellence in CdLS to assist in the management of their loved one’s medical issues where we have exhausted their local medical resources to no avail. Offering them access to CdLS experts to create a comprehensive care plan to take back to their Canadian clinicians. At the clinic they also meet other families with CdLS and receive support form those going through similar challenges. New Programs: We are now fundraising to create a Canadian CdLS Centre of Excellence and to be able to run a CdLS Clinic here in Canada for families diagnosed with CdLS