Editor’s Note: In recognition of World Down Syndrome Day (March 21), we’re publishing a post by Dr. Sean McGann, emergency physician and father of a child with Down syndrome. The date, 3/21, was specifically chosen to signify the uniqueness of the triplication (3) of the 21st chromosome. This post was developed in collaboration with Dr. McGann, based on his talk at the recent PCOM Advancing Emergency Care in Critical Moments Conference. ~JB
Three years ago, if you had asked me about Down syndrome, I probably would have given you the “First Aid” answer we all memorized for Step 1:
- Trisomy 21
- Congenital heart disease
- Hypotonia
- Increased leukemia risk
That was the clinical caricature that lived in my head. Then my daughter, Eliza, was born.
Because the biggest lessons have very little to do with medicine.
1. Start with the Person, Not the Diagnosis
When I first learned about person-first language in medical school, I understood it, but it was Eliza who taught me how much it matters. We often reduce patients to their pathology. We talk about “the pneumonia in Room 6” or “the hip fracture in Room 5.” While never ideal, when it comes to a lifelong diagnosis like Down syndrome, that framing hits differently.
When I hear someone refer to a “Down’s kid,” it feels like they are describing a set of symptoms rather than a human being. Using person-first language – a child with Down syndrome – is a small shift that carries immense weight for families. It acknowledges that the diagnosis is something the child has, not who the child is. It reminds us that these patients are incredibly diverse in their abilities, personalities, and medical complexity.
The diagnosis does not define the child; it is simply one part of their story.
2. Ending the Stereotypes: Expectations Matter
Last year’s global theme for World Down Syndrome Day was “End the Stereotypes,” and for good reason. Since 1960, the life expectancy for a person with Down syndrome has jumped from 10 to 60 years. This wasn’t because of a “miracle drug,” but because of a societal shift: the decision that people with Down syndrome matter.
With better access to medical care, early intervention, and more supportive environments, quality of life has soared. People with Down syndrome are living independently, working, and pursuing higher education.
• Rachel Handlin earned a Master of Fine Arts and recently held a solo show in Manhattan.
• Ana Victoria Espino recently became the first lawyer with Down syndrome.
Sometimes the biggest limitation on a person can be your expectations of them.
3. The ED is a Sensory Minefield
Our departments were not designed for sensory needs. Bright fluorescent lights, constant alarms, and a rotating door of providers can be overwhelming for any child, but for many children with Down syndrome, it can trigger significant distress.
Small environmental adjustments can fundamentally change the clinical encounter:
• Avoid hallway beds whenever possible.
• Shorten wait times or move the family to a quieter room early.
• Dim the lights and reduce unnecessary stimulation.
Even small efforts to decrease sensory overload can help the encounter go much more smoothly.
4. These Families are “Professional” Patients
Before Eliza, I didn’t realize how heavy the “medical load” is for these families (and she is relatively very healthy!). In addition to 4 hours per week of early intervention therapies, during her first year of life alone, she had 31 medical visits, including:
• Routine screenings with Cardiology, Genetics, Endocrinology, Otolaryngology, Ophthalmology, Orthopedics, and Audiology
• An ophthalmology procedure
• A 4-day admission for bronchiolitis
• 19 primary care visits
They aren’t just “tired parents”; they are often experts in navigating a complex healthcare system and come with strong perspectives – both good and bad – about that system.
5. Parents are Your Best Clinical Resource
One of the most important lessons I’ve learned is that you cannot properly assess a child with Down syndrome without understanding what is normal for them. Many “classic” signs of illness can be misinterpreted:
• Hypotonia: Is this their normal muscle tone?
• Activity Level: Are they usually this quiet?
• Work of Breathing: What does their baseline respiratory effort look like?
• Decreased SVR: Is this skin coloring typical?
Prioritizing the caregiver’s input early in the encounter often brings the clinical picture into focus faster than any lab test. If there is a misalignment between your medical concerns and their parental intuition, don’t just move forward – lean in and explore that gap.
Clinical Tip: Don’t rely solely on standard pain scales. Children with Down syndrome may express pain differently – sometimes through withdrawal or subtle behavioral changes rather than crying. Ask the caregiver: “Is this typical for them? How does this compare to their ‘normal’?”
6. Avoid “Diagnostic Overshadowing”
One of the most dangerous traps in medicine is diagnostic overshadowing – attributing new symptoms to a known diagnosis (Down syndrome) rather than looking for common pediatric illnesses.
Most children with Down syndrome are generally healthy day-to-day. When they come to the ED, they usually have the same things every other kid has: RSV, croup, or gastroenteritis.
The diagnosis might make the recovery slower or the illness more severe, but don’t let the “Trisomy 21” label distract you from the standard pediatric differential.
The Takeaway
Most of the frustrations parents of children with Down syndrome share about their healthcare experiences have nothing to do with clinical decisions. They stem from feeling dismissed, unheard, or reduced to a diagnosis.
If we can improve our language, our environment, and our partnership with these families, we don’t just provide better medicine – we provide better care. And sometimes, that matters just as much as anything we prescribe.
Dr. Sean McGann, MD, MBA, is an Emergency Medicine Physician and Director of Quality and Safety at Jefferson Health. He can be reached at Sean.McGann@jefferson.edu.
