Sharing Dirk’s Story: How a Family Found Hope and Answers Through Innovation in Autism Research

Saturday, April 2nd is the United Nations-sanctioned World Autism Awareness Day, a day to recognize and spread awareness about autism. In Canada, approximately one in 66 children and youth (ages 5-17) are diagnosed with autism spectrum disorder (ASD).

ASD refers to a broad range of conditions characterized by social, communication, motor and learning skills challenges – and no two cases of autism are the same. Each autistic person has a distinct set of strengths and challenges. Even in families where more than one sibling is autistic, the underlying genetics of the condition can be very different. This variability between individuals with ASD has made precision health the most promising treatment approach.

Enhancing and Accelerating the Pace of Autism Research

To better understand autism spectrum disorder (ASD), huge steps have been taken in Canada and abroad to perform research that relies on data related to genetics. Critical genetic insights are leading to earlier diagnosis, more effective treatments and improved program success. But while a great deal of genomic and clinical data is being collected, these datasets are often maintained independently by institutions to protect the privacy and data security of families.

The Autism Sharing Initiative project is building the first global network for safely sharing genomics, clinical and biomedical data to accelerate research and develop precision healthcare approaches for individuals on the autism spectrum. Utilizing the latest open standards for data sharing developed by the Global Alliance for Genomics & Health, researchers and healthcare professionals can bring their best ideas forward in the most efficient and careful way. International collaboration is facilitated between institutions, allowing users to search and analyze multiple de-identified datasets at the same time, without moving the data from its original organization. Because the location of the data is maintained, the levels of privacy and security will be maintained, and data will be accessed according to patient consent.

Providing Hope and Opportunity for Dirk’s Family

Dirk De Keersmaecker is a Vancouver-based father of nine years old twin boys. Both boys are on the Autism spectrum, with very different symptoms, where one is completely non-verbal, and one is just taking steps into the talking world. One son has significant stomach and muscle pain issues, but it has been very hard to pinpoint the exact cause, even with the help of multiple specialists.

Dirk has kindly shared with us his experience of how advanced genetic research and safe data sharing has directly impacted the life of his family.

“…Our doctors and our family now have access to genetic specialists from across Canada and all over the world that can look at my son’s complete scan of his genome sequence, identify genetic defects and guide us to a more precise treatment for his pain. This will allow him to have more mental resources to manage his other Autism symptoms and therefore be able to focus on attaining skills he will need later in life. This is really a big deal for us as a family.”

– Dirk De Keersmaecker

This week, Dirk shared that they did indeed get a diagnosis for one of his boys, and is currently waiting for confirmation on the other son.


“Thanks to the Supercluster (and the Autism Awareness Initiative), our Genetic Specialist was able to provide a diagnosis in weeks, compared to years and years of various specialists guessing for causes without an accurate diagnosis. Having a final diagnosis helps tremendously in how to plan for the future, and how to handle the current.”

None of this research would be possible without the brave participation of autism families such as the De Keersmaecker family, ongoing community support and the technology innovation accelerated by Canadians that really care.  

The Autism Sharing Initiative builds on research through the work of a consortium that includes Autism SpeaksAutism Speaks CanadaDNAstackExcelar TechnologiesMcGill University’s Centre of Genomics and PolicyMolecular YouPacific Autism Family Centre FoundationHoffmann-La Roche Limited (Roche Canada), SickKids and the University of British Columbia. In addition to the core consortium, partners supporting this initiative include Holland-Bloorview Kids Rehabilitation HospitalOntario Brain Institute, and the Autism SPectrum Interdisciplinary REsearch (ASPIRE) Program at BC Children’s Hospital Research Institute.