A lifelong home for Down syndrome care that improves lives and advances medical care

What changes when children and adults with Down syndrome can get care in one place? Families get more than appointments. They get a team that knows them, follows them and stays with them for the long run.

For many families, care has too often meant chasing specialists, repeating the same story and trying to manage a complex condition across separate offices. That can be exhausting, especially during the move from pediatric care to adult care. AdventHealth for Children saw that need and built a different model.

In partnership with the National Down Syndrome Society and Down Syndrome Association of Central Florida, AdventHealth for Children opened the SMILE with Stella Tremonti Down Syndrome Clinic in 2023.

Based in Orlando, it is the first and only lifespan Down syndrome program in the Southeast. The clinic provides coordinated care from prenatal diagnosis through adulthood.

“Many adult providers will go their entire career and not see a single patient with Down syndrome,” said Dr. Asef Mahmud, who leads adult care for the program. “Our clinic was designed to close that gap by offering lifelong care that changes with each patient’s needs.”

Making it easy for families

The clinic brings together primary care, specialty support and care coordination in one place. Families can get help with:

• Prenatal counseling, birth planning and support after diagnosis
• Pediatric and adult primary care from doctors with Down syndrome expertise
• Referrals to speech, occupational and physical therapy
• Help with transitions to adulthood, including guardianship, school planning and work readiness
• Each family is paired with a dedicated care coordinator who is a licensed social worker and provides support with scheduling, care coordination, specialty referrals, communication and access to community resources. As the mother of a child with Down syndrome, AdventHealth for Children’s care coordinator also brings valuable lived experience to her role.

For families, that means fewer dead ends and more steady support.

“As parents, you should not have to hold everything together alone,” Dr. Stacy McConkey said. “Our role is to connect the dots and help each family move forward with confidence.

Why this kind of whole-person care matters

An estimated 400,000 to 600,000 people are living with Down syndrome in the United States, and as medical care has advanced, the focus has evolved from survival in childhood to supporting quality of life across the lifespan, recognizing that life expectancy for individuals with Down syndrome has increased from 25 years in 1983 to 60 years today.

“When patients age out of pediatric care, many patients describe it as falling off a cliff,” said Dr. Stacy McConkey, the clinic’s pediatric medical director. “Our care model is allowing us to see things differently.”

Additionally, people with Down syndrome often need ongoing monitoring for health issues that can affect the heart, hearing, vision, thyroid, digestion and sleep. And as they age, other concerns can also appear, including obesity, diabetes, mental health conditions, and early signs of Alzheimer’s disease and dementia.

That is why continuity matters. A team that knows the patient can spot changes sooner, reduce stress during visits and make sure care does not fall through the cracks.

The clinic also adjusts the care experience to better fit each patient. That can mean longer visits, a calmer environment, help with communication and support for families navigating school systems, specialists and daily life.

Advancing medical care

The AdventHealth team says the clinic is not only improving care. It is also helping them learn.

Because the same patients return over time, patterns become easier to see. Some are rare, and some are newly recognized. One example is paroxysmal tonic up gaze, a movement disorder that can look like seizures and manifests as the person repeatedly looking up.

I now have four children in my practice of 250 with the same disorder,” Dr. McConkey said. “The prevalence is supposed to be one in a million. If I was in a traditional pediatric practice, I wouldn't have this many children with Down syndrome, and I wouldn't have uncovered this trend. Volume creates visibility, and visibility enables discovery.”

Another is Down syndrome regression disorder, a serious condition that can cause sudden loss of speech, behavior or daily skills in teens and young adults.

“One of my first patients presented with regression disorder, which remains underrecognized nationally. There is no definitive diagnostic test, and only a handful of centers across the country even treat it,” Dr. Asef Mahmud said. “Because we follow people long term, we can better understand what helps them most over time. That improves care today and may help shape better care in the future.”

Creating a clinic with input from families and experts

The clinic’s goal is not only better medicine. It is a better experience for the whole family.

Through its Patient and Family Experience Council, AdventHealth for Children works directly with parents and caregivers to solve everyday challenges. That includes making routine tasks, like toothbrushing, blood draws and heart tests, less stressful and more manageable.

The clinic also partners with outside groups such as the Global Down Syndrome Foundation, the National Down Syndrome Congress, University of New Mexico’s Project ECHO and the National Institutes of Health’s confidential Down syndrome registry to name a few.

“Families in the Down syndrome community are deeply connected and incredibly supportive of one another,” Dr. McConkey said. “We are committed to learning alongside them so we can keep improving care and helping every patient feel fully supported.”

By bringing care together across the lifespan, AdventHealth for Children is doing more than filling a gap. It is building a place where people with Down syndrome can be known, supported and cared for every step of the way.

Learn more about the SMILE with Stella Tremonti Down Syndrome Clinic.