‘An answered prayer’
Many clinicians still treat aging Down syndrome patients like kids, but a handful of docs are reaching out
It took Samantha Lesmeister’s family four months to find a medical professional who could see that she was struggling with more than Down syndrome.
The young woman, who goes by Sammee, had become unusually sad and lethargic after falling in the shower and hitting her head. She lost her limited ability to speak, stopped laughing and no longer wanted to leave the house.
General practitioners and a neurologist said such mental deterioration was typical for a person with Down syndrome entering adulthood, recalled her mother, Marilyn Lesmeister. They said nothing could be done.
The family didn’t buy it. Marilyn researched online and learned the University of Kansas Health System has a clinic for adults with Down syndrome.
Most Down syndrome programs nationwide focus on kids, even though many people with the condition now live into middle age and often develop health problems typically associated with seniors. And most clinics for adults are in urban areas, making access difficult for many rural patients.
The clinic Marilyn found is in Kansas City, Kansas, 80 miles northwest of the family’s cattle farm in central Missouri. She made an appointment for her daughter and drove up.
The program’s leader, nurse practitioner Moya Peterson, examined Sammee and ordered tests.
“She reassured me that, ‘Mom, you’re right. Something’s wrong with your daughter,’ ” Marilyn Lesmeister said.
Peterson determined Sammee had suffered a traumatic brain injury when she hit her head. Since that diagnosis about nine years ago, she has regained much of her strength. Now 27, she can again speak a few words, including “hi,” “bye” and “love you.” She likes to go out into her community, where she helps choose meals at restaurants, rides horses
at a stable and folds linens at a nursing home.
Without Peterson’s insight, the family likely would have given up on Sammee’s recovery. “She probably would have continued to wither within herself,” her mother said.
The Lesmeisters wish Peterson’s program wasn’t such a rarity. A directory from the Global Down Syndrome Foundation lists just 15 medical programs nationwide that are housed outside of children’s hospitals for Down syndrome patients age 30 or older.
The United States had about three times as many adults with the condition by 2016 as it did in 1970. That’s mainly because children born with it are no longer denied lifesaving care, including surgeries to correct birth defects.
Adults with Down syndrome often develop chronic health problems, such as severe sleep apnea, digestive disorders, thyroid conditions and obesity. Many develop Alzheimer’s disease in middle age.
Sammee is an example of the trend toward longer life spans.
She was born with a hole in a wall of her heart, as do about half of babies with Down syndrome. Surgeons can repair those dangerous defects, but in the past, doctors advised most families to forgo the operations. Many with
Down syndrome also were denied care for breathing issues, digestive problems or other chronic conditions. People with disabilities were often institutionalized, and sterilized without their consent.
Such mistreatment eased from the 1960s into the 1980s, as people with disabilities stood up for their rights, medical ethics progressed and courts declared it illegal to withhold care. “Those landmark rulings sealed the deal: Children with Down syndrome have the right to the same lifesaving treatment that any other child would deserve,” said Brian Skotko, a Harvard geneticist who leads Massachusetts General Hospital’s Down Syndrome Program.
The median life expectancy for a baby born in the U.S. with Down syndrome jumped from about 4 years old in 1950 to 58 years old in the 2010s, according to a recent report from Skotko and other researchers. In 1950, fewer than 50,000 Americans were living with Down syndrome. By 2017, that number topped 217,000, including tens of thousands of people in middle age or beyond.
The population is expected to continue growing, the report says. A few thousand pregnant women a year now choose abortions after learning they’re carrying fetuses with Down syndrome.
But those reductions are offset by the increasing number of women becoming pregnant in their late 30s or 40s, when they are more likely to give birth to a baby with Down syndrome.
Skotko said the medical system has not kept up with the increase in the number of adults with Down syndrome. Many medical students learn about the condition only while training to treat pediatric patients, he said.
Charlotte Woodward, who has Down syndrome, is a prominent advocate for improved care. She counts herself among the tens of thousands of adults with the condition who likely would have died years ago without proper treatment. The 33-year-old of Fairfax, Virginia, had four heart surgeries as a child and then a heart transplant in her 20s. She has campaigned to end discrimination against people with disabilities who need organ transplants.
She said her primary care doctor is excellent. But she feels she has been treated like a child by other clinicians who have spoken to her parents instead of her directly at appointments.
Woodward said many primary care doctors seem to have little knowledge about adults with Down syndrome. “That’s something that should change,” she said.
She believes adults with the condition should not be expected to seek care at programs housed in children’s hospitals. The country ought to set up more specialized clinics and finance more research into health problems that affect people with disabilities as they age. “This is really an issue of civil rights,” she said.
Advocates and clinicians say it’s crucial for health care providers to communicate as much as possible with patients who have disabilities. That can lead to long appointments, said Brian Chicoine, who leads the Adult Down Syndrome Center of Advocate Aurora Health near Chicago.
“It’s very important to us that we include the individuals with Down syndrome in their care,” he said. “If you’re doing that, you have to take your time. You have to explain things. You have to let them process. You have to let them answer. All of that takes more time.”
Time costs money, which Peterson believes is why many hospital systems don’t set up clinics like the ones she and Chicoine run.
Peterson’s approach was evident as she saw patients on a recent afternoon at her Kansas City clinic. She often spends an hour on each initial appointment, speaking directly to patients and giving them a chance to share their thoughts, even if their vocabularies are limited.
Her patients that day included Christopher Yeo, 44, who lives 100 miles away in Hartford, Kansas. Yeo had become unable to swallow solid food, and he’d lost 45 pounds over about 1 ½ years. He complained to his mother, Mandi Nance, that something “tickled” in his chest.
During his exam, he lifted his shirt for Peterson, revealing the scar where he’d had heart surgery as a baby. He pointed to his chest, and repeatedly said the word “gas.” Peterson looked Yeo in the eyes as she asked him and his mother about his discomfort. “If they say it hurts, I listen,” Peterson said.
Nance had taken him to several specialists, but none had determined a problem.
Peterson asked numerous questions: When does Yeo’s discomfort seem to crop up? Could it be related to what he eats? How is his sleep? What are his stools like? Peterson referred Yeo to a cardiologist who specializes in adults with congenital heart problems. And she recommended a test for Celiac disease, an autoimmune disorder that interferes with digestion and is common in people with Down syndrome. No one had previously told Nance about the risk.
Nance, who is a registered nurse, was struck by the patience and attention Peterson and the other staff gave to her son. Such treatment is rare, she said. “I feel like it’s a godsend. I do,” she said. “I feel like it’s an answered prayer.”