Montrose, Missouri
KFF
—
It took Samantha Lesmeister’s family four months to find a medical professional who could see that she was struggling with more than just her Down syndrome.
The young woman, known as 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 decline was typical of a person with Down syndrome entering adulthood, recalled his mother, Marilyn Lesmeister. They said nothing could be done.
The family did not buy it.
Marilyn researched online and discovered that the University of Kansas Health System has a special medical clinic for adults with Down syndrome. Most other Down syndrome programs around the country focus on children, although many people with the condition now live into middle age and often develop health problems typically associated with older people. And most adult-focused clinics 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.
The program leader, nurse practitioner Moya Peterson, carefully examined Sammee Lesmeister and ordered more tests.
“She assured me that, ‘Mom, you’re right. There’s something wrong with her daughter,’” Marilyn Lesmeister said.
With the help of a second neurologist, Peterson determined that Sammee Lesmeister 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 and spirit with the help of therapy and constant support.
Sammee, now 27, can say a few words again, including “hello,” “bye” and “I love you.” She smiles and laughs. She likes to get out of her way to her rural community, where she helps choose meals at restaurants, attends riding sessions at a stable, and folds clothes at a nursing home.
Without Peterson’s insight and encouragement, the family likely would have given up on Sammee’s recovery. “She probably would have continued to wither inside herself,” her mother said. “I think she would have been a stay-at-home person and a recluse.”
The Lesmeisters wish Peterson’s show wasn’t so weird. A directory published by the Global Down Syndrome Foundation lists only 15 medical programs nationwide that are located outside of children’s hospitals and accept Down syndrome patients 30 and older.
In 2016, the United States had nearly three times as many adults with the condition as in 1970. This is largely because children born with the condition are no longer denied vital 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. The researchers suspect this is related to extra copies of genes that cause overproduction of proteins, which accumulate in the brain.
“Caring for children is a whole different ball game than caring for adults,” said Peterson, the University of Kansas nurse practitioner.
Sammee Lesmeister is an example of the trend towards longer lives. If he had been born two generations ago, he would probably have died in infancy.
He had a hole in the wall of his heart, just like half the babies with Down syndrome. Surgeons can repair these dangerous defects, but in the past, doctors advised most families to forgo operations or said the children didn’t qualify. Many people with Down syndrome were also denied care for severe respiratory problems, digestive problems, or other chronic conditions. People with disabilities were often institutionalized. Many were sterilized without their consent.
Such mistreatment declined from the 1960s to the 1980s, as people with disabilities stood up for their rights, medical ethics progressed, and courts made it illegal to deny care. “Those landmark rulings sealed the deal: Children with Down syndrome are entitled to the same vital treatment that any other child would deserve,” said Brian Skotko, a Harvard University medical geneticist who directs the Down Syndrome Program at Washington General Hospital. Massachusetts.
The average life expectancy of a baby born in the US with Down syndrome jumped from about four years in 1950 to 58 years in the 2010s, according to a recent report by Skotko and other researchers. In 1950, fewer than 50,000 Americans were living with Down syndrome. By 2017, that number surpassed 217,000, including tens of thousands of people middle-aged and older.
The population is expected to continue to grow, the report says. A few thousand pregnant women a year now choose to abort after learning they are carrying Down syndrome fetuses. But those declines are offset by the increasing number of women becoming pregnant in their 30s and 40s, when they are most likely to give birth to a baby with Down syndrome.
Skotko said the medical system has not kept up with the extraordinary increase in the number of adults with Down syndrome. Many medical students learn about the condition only while training to treat pediatric patients, she said.
Few patients are able to travel to specialized clinics like Skotko’s program in Boston. To help those who can’t, he founded an online service, Down syndrome clinic for youthat helps families and doctors understand complications and possible treatments.
Charlotte Woodward, who has Down syndrome, is a leading advocate for improved care. She is among the tens of thousands of adults with the condition who would likely have died years ago without proper treatment. Woodward, 33, of Fairfax, Virginia, underwent four heart surgeries as a child and then a heart transplant when she was 20.
Woodward, who is an associate in the education program of the National Down Syndrome Society, has campaigned to end discrimination against people with disabilities who need organ transplants.
He said his primary care doctor is excellent. But she has felt treated like a child by other health care providers, who have talked to her parents instead of her during appointments.
He said that many general practitioners seem to have little knowledge about adults with Down syndrome. “That is something that should change,” she said. “It shouldn’t be just pediatricians who are aware of these things.”
Woodward said adults with the condition should not be expected to seek care at programs housed in children’s hospitals. She said the country should set up more specialized clinics and fund more research into the health problems that affect people with disabilities as they age. “This is really a civil rights issue,” she said.
Advocates and doctors 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, a family physician who runs the Down Syndrome for Adults Center of Advocate Aurora Health in Park Ridge, Illinois, near Chicago.
“It is very important to us that we include people 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, and Peterson believes that’s why many hospital systems don’t set up specialty clinics like the ones she and Chicoine run.
Peterson’s methodical approach was evident when he saw new patients on a recent afternoon at his Kansas City clinic. She often spends an hour at each initial appointment, speaking directly with patients and giving them the opportunity to share their thoughts, even if her vocabulary is limited.
His patients that day included Christopher Yeo, 44, who lives 100 miles away in the small town of Hartford, Kansas. Yeo had become unable to swallow solid food and had lost 45 pounds in about a year and a half. He complained to his mother, Mandi Nance, that something was “tickling” on his chest.
During his examination, Peterson’s shirt was lifted, revealing the scar where he had heart surgery as a baby. He made a face, pointed to his chest, and repeatedly said the word “gas.”
Peterson met Yeo’s eyes as she questioned him and his mother about their discomfort.
The nurse practitioner takes such complaints from her patients seriously. “If they say it hurts, I listen to them,” she said. “They won’t tell you until it hurts a lot.”
Yeo’s mother had taken him to a cardiologist and other specialists, but none had determined what was wrong.
Peterson asked numerous questions. When does Yeo’s discomfort seem to arise? Could it be related to what she eats? How is her dream? How are her stools?
After their appointment, Peterson referred Yeo to a cardiologist who specializes in adults with congenital heart problems. He ordered a swallowing test, in which Yeo drank a special liquid that shows up on scans as it goes down. And he 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, said afterwards that she has no idea what the future holds for her family. But she was impressed by the patience and care Peterson and other clinic staff members gave 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.”
Peterson serves as a primary care provider for some of his Down syndrome patients. But for many others, especially those who live far away, she is someone to turn to when complications arise. This is how the Lesmeisters use her clinic.
Mama Marilyn is optimistic that Sammee can live a full life in her community for years to come. “Some people have said I need to put her in a home. And I’m like, ‘What do you mean?’ And they say, ‘You know, a home,’” she said. “I’m like, ‘She’s in a house. Our house.'”
Sammee’s sister, who lives in Texas, has agreed to take her in when her parents are too old to care for her.
Marilyn’s voice cracked with emotion as she expressed her gratitude for the help they had received and her hopes for Sammee’s future.
“I just want them to take care of her and love her like I love her,” he said. “I want them to take care of her as a person, and not as a condition.”