Collaboration and advocacy for families living with rare chromosome disorder

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Idic15 logo

Idic15 logo

British Columbia – 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, McKirdy started contacting specialists and scientists across Canada and the amazing results have been the start of four Idic15 specific clinics, in Vancouver, Toronto, Calgary and Halifax.

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 Parent 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 risk 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 greatlyin 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 Toronto in Genetics and Genomic Biology as well as Director of The Centre for Applied Genomics.

His Colleague Russell Schachar, MD, Senior Scientist, Neurosciences & Mental Health, who initiated a clinical-research program in Neuropsychiatry, established a model clinical research program (Neuropsychiatry Team) and set up an active laboratory at Toronto’s Sick kids as well.

Other Colloborative Scientists include Dr Lawrence Reiter of TN, USA who has been doing in depth phenotypic and molecular analysis of individuals with interstitial duplications of 15q. He is also heading up an NIH funded study titled, “Tooth Pulp as a Source for Neuronal Precursor Cells to Study Neurogenetic Disorders,” being conducted over a two-year period.

Dr N. Carolyn Schanen, Adjunct Associate Professor Head, Human Genetics Research, A.I. duPont Hospital for Children in Wilmington, DE and is active in research of Autism and chromosome 15 duplications with many written articles as well.

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, Vancouver, B.C.; Dr. Luis E Bello-Espinosa, Pediatric Epilepsy and Child Neurology Alberta Children’s Hospital, Calgary, AB.; Dr Melissa Carter, Clinical Geneticist at Toronto SickKids,  and Dr. Paula Brna Assistant Professor of Pediatrics, Pediatric Neurologist at the IWK Health Centre in Halifax.

“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.”

Currently clinicians, researchers and Idic15 Canada affiliates have signed a proclamation that was put forth to declare October 15, 2013, the world’s first Idic15 Awareness Day. (this was the day that Therese McKirdy and Connor left for Boston).

Activities and events associated with this day will be geared around promoting awareness and diagnosis of the syndrome throughout the medical community. Sadly, many global regions are not diagnosing and therefore many of our global families are not getting the help they need.  Therese says,  “Please save the date!. October 15 is now World Idic15 Awareness Day. And special thanks to the many in the global medical community that are supporting us in this endeavor.”

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