Collaboration & Advocacy for families living with Rare Chromosome Disorder
February 28, 2013
IDIC15 Canada is a New Canadian non-profit organization which provides Collaboration, Advocacy and Research to families living with Idic15 and it’s variants otherwise known as Chromosome 15q11-13 Duplication Syndrome. This organization is born from the need to advance medical resources and awareness in Canada. There are over 40 known families in Canada, but many areas of the country are not diagnosing the disorder because of lack of medical awareness. Idic15 Canada is connected to a global community of Idic15 families of about 350 families through their FB outreach and intend to be a transparent organization with international scientific and medical collaboration as one of their cornerstones.
The Vision started with two Moms of children with Idic15. In October 2012, Therese McKirdy of Barriere, B.C. travelled to Boston, Mass with her son to obtain medical help as this was the only Idic15 Clinic available in the world under the direction of Dr Ron Thibert. After realizing the medical management importance of having these clinics in Canada, she started emailing specialists and scientists and the amazing results have been the start of three Idic15 clinics, Toronto Sickkids, Alberta Children’s Hospital, Calgary and B.C. Childrens Hospital in Vancouver.
Lori Eisenhaur of North Vancouver also had a vision, one dedicated to research of Idic15. “One of the main goals of mine is to facilitate research that is dedicated to 15q11-13 duplication syndrome specifically as well as being geared towards ‘clinical’ research and not theoretical. Borrowing from the economic concept of micro finance, I endeavour to provide small financial grants that spark clinical innovations and further understanding of IDIC15 and its variants”.
Together Therese and Lori formed Idic15 Canada, an informal not for profit organization.
Idic15 causes epilepsy in the majority of people affected and is by far the most medically concerning aspect of the disorder. There are many complicated and complex symptoms that people living with Idic15 contend with including: Developmental Delays, Autism Spectrum Disorders, Hypotonia, Severely Delayed or absent speech etc. And one of the most alarming is the prevalence of SUDEP (Sudden Unexpected Death in Epilepsy) in Idic15 children.
Within the organization there will be a Scientific Advisory Board, fronted by Dr Jeffrey R. Buchhalter, Professor, Pediatric Neurology, Alberta Children’s Hospital who is involved greatly in many neurological organizations including chair of the American Epilepsy Society SUDEP (Sudden Unexpected Death in Epilepsy) Task Force. Joined by Dr Stephen Scherer, a Senior Scientist at The Hospital for Sick Children in Genetics and Genomic Biology as well as Director of The Centre for Applied Genomics. This team will be overseeing the much needed research for Idic15. Some of the Esteemed Doctors who are pioneering and implementing the Idic15 clinics and necessary colleagues include Dr Michelle Demos, who will see patients in her newly formed Neurogenetics clinic at B.C. Children’s Hospital, Dr Luis E Bello-Espinosa, Pediatric Epilepsy and Child Neurology Alberta Children’s Hospital, and Dr Melissa Carter, Clinical Geneticist at Toronto SickKids.
“The intention from our very beginning is to be completely transparent in our purpose and
activities, foster a collaborative and mutually beneficial relationship with the other global organizations and provide facilitation of our medical experts to connect with each other, and finally to provide a platform that is informative, collaborative and an advocacy for patients with Idic15.”
For more information and support, please visit our website: idic15canada.ca