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“An Exceptional Home” for Individuals with Down Syndrome

Brian Skotko, MD, MPP

Profile in Medicine

“An Exceptional Home” for Individuals with Down Syndrome

March 21 is World Down Syndrome Day and Brian Skotko, MD, MPP, director of Mass General’s Down Syndrome Program, speaks about opportunities and challenges facing patients and their families.

Paul Goldsmith
March 20, 2023

Brian Skotko, MD, MPP, director of the Down Syndrome Program at Massachusetts General Hospital, has dedicated his life to caring for children with cognitive and developmental disabilities. In honor of World Down Syndrome Day on March 21, we asked Dr. Skotko about what differentiates Mass General’s Down Syndrome Program, the challenges facing patients and their families, and what he finds most exciting about the future of Down syndrome care.

What makes Mass General a leader in care for patients with Down syndrome?

Mass General is an exceptional home for individuals with Down syndrome because we are a hospital for all ages. Our multidisciplinary team currently follows more than 700 patients — from couples who are pregnant and seeking more information; to infants, toddlers and children; to adults and seniors with Down syndrome. We feel so privileged to be part of these journeys with our patients and to help them maximize their health and development. We are also a leader in research. Over the past year, we have helped advance the understanding and treatment of certain common co-occurring conditions, like sleep apnea and Alzheimer’s disease, that can occur in many of our adults with Down syndrome.

What’s the biggest challenge facing patients and families in the clinic right now?

One of biggest obstacles is health insurance, actually. Simply put, insurance doesn’t usually subsidize the multidisciplinary care our patients need, such as social workers, nutritionists, and resource specialists. This means we’re forced to fill that gap through fundraising. For each patient visit, we have to raise around $600 to cover costs associated with the care we provide — which keeps our team very busy. Some Down syndrome clinics around the country have shut down for this very reason — and there are not many of them remaining to cover the population’s needs.

How are you working to overcome it?

We’re working with the Mass General development team to create an endowment to permanently secure the future of the Down syndrome clinic at Mass General. That way, 50 years from now, 100 years from now, 300 years from now, individuals with Down syndrome will be able to turn to Mass General for their health care. To date, we’ve secured roughly $6 million toward our $14 million goal.

What are you most excited about in terms of today’s clinical care and research?

Very few families who have loved ones with Down syndrome have access to the kind of care we’re able to provide at Mass General. With that in mind, we created a new digital platform for patients and their families — Down Syndrome Clinic To You (DSC2U). The platform, which is available in both English and Spanish, is designed as a resource for families. Now, no matter where they are in the world, caregivers can get customized, tailored recommendations that they can take to their local primary care doctor to implement. And, put simply, people no longer need to come to us. We come to them in the convenience of their own home.

What led you to specialize in the care of individuals with Down syndrome?

I have my sister, Kristin, to thank for that. Kristin, who has Down syndrome, has been a source of inspiration for me from the beginning. It’s because of her that I went to medical school. My dream was to be able to help run and lead a Down syndrome multidisciplinary clinic, and that is what I get to do today. And along this journey, I’ve met so many thousands of people with Down syndrome that continue to inspire me each day. But she continues to be a source of great motivation in my life.

To make a donation or learn more about how you can support the Down Syndrome Program at Mass General, please contact us.