Ainsley Cardle was 17 weeks in the womb when her mother, Mary, was told of her prenatal diagnosis for Down syndrome.
Ainsley, now 10 years old, was welcomed with love into the family, though Mary Cardle, a Burnaby resident, concedes that limited access to resources, medical practitioners and educators in the area have added to the challenges of having a child born with Down syndrome.
So when she learned of the new global virtual platform, Down Syndrome Clinic to You (DSC2U) launched by Dr. Brian Skotko at Mass General Brigham, she was thrilled at having access to additional resources.
The virtual platform was created by medical geneticist Dr. Brian Skotko at Mass General to connect families and primary care physicians with personalized health and wellness information for their loved ones and patients with Down syndrome.
“People might not have easy access to a doctor or pediatrician,” she said. “We have a fantastic one, but pediatricians don’t have a lot of experience with Down syndrome, so [DSC2U] is very useful, informative and it’s easy to use.”
The platform is interactive, and users can pose questions, identify current symptoms, and input any past medical information or behavioural diagnoses.
The information then goes through sets of algorithms to provide the users with two documents: one for the caregivers, about what they should do for their loved ones with Down syndrome, and another companion document to take to their local primary care provider.
“[The goal is] to turn your primary care provider into a Down syndrome specialist by giving them the tools,” Skotko said. “It’s a way of scaling our knowledge. It’s not telemedicine, but instead we have downloaded our brains into all the decisions that we could possibly make, so when parents go online, the answers will yield back.”
So far, it has worked for Cardle — she said it has provided resources on life-skills, possible diagnoses, and more importantly, specific information to bring to her primary care provider. “It’s a great guide for our kids’ health,” she said.
The idea for the virtual platform came to Dr. Skotko after seeing his own sister with Down syndrome struggling to access care. The idea was to take the knowledge that the doctors had and find a way to provide it easily to people around the globe.
“My hope is that health care could be democratized for people with Down syndrome,” he said. “No matter where they’re born, where they live, they deserve the right to make sure they’re as healthy as possible. It shouldn’t be the fact that you live in the backyard of Harvard Medical School that you get the best medical information. The goal is really to beam out this knowledge, so people like my sister and around the globe can get that knowledge and simply live their best lives.”
DSC2U is available in English and Spanish for USD $49 per use or an annual subscription at USD $69 for unlimited consultations.
Down Syndrome Resource Foundation is another local resource for people with Down syndrome to reach out to.