MONTROSE, Missouri — It took Samantha Liesemeister’s family four months to find a medical professional who could see that she was suffering from something more than Down syndrome.
The young woman, known as Sammy, has become unusually sad and lethargic after falling in the bathroom and hitting her in the head. She lost her limited ability to speak, stopped laughing, and no longer wanted to leave the house.
Such mental decline was typical of someone with Down syndrome entering adulthood, GPs and a neurologist said, recalls her mother, Marilyn Liesemeester. They said nothing can be done.
The family did not buy it.
Marilyn searched online and learned that the University of Kansas Health System has a private clinic for adults with Down syndrome. Most other Down syndrome programs across the country focus on children, although many people with the condition now live into middle age and often suffer from health problems typically associated with older adults. Most of the adult-focused clinics are located in urban areas, which makes access difficult for many patients in rural areas.
The clinic Marilyn found is in Kansas City, Kansas, 80 miles northwest of the family’s cattle ranch in central Missouri. She made an appointment for her daughter and drove off.
The program leader, nurse practitioner Moya Peterson, carefully examined Sammee Lesmeister and ordered more tests.
“You reassured me that, Mom, you are right. There is something wrong with your daughter,” said Marilyn Liesemeester.
With the help of a second neurologist, Peterson determined that Sami Liesemeister had suffered a traumatic brain injury when she hit her head. Since that diagnosis nearly nine years ago, she has regained much of her strength and spirit with the help of ongoing therapy and support.
Sammee, now 27, can speak back with a few words, including “hello,” “goodbye,” and “I love you.” You smile and laugh. She loves getting out in her rural community, where she helps choose meals at restaurants, attends horseback riding sessions at the stable, and folds the linens at a nursing home.
Without Peterson’s vision and encouragement, the family will likely give up on Sammy’s recovery. “She would probably continue to wilt within herself,” said her mother. “I think she would have stayed home and isolated.”
“A whole different ball game”
The Lesmeisters wished Peterson’s program wasn’t so scarce. Guide posted by International Down Syndrome Foundation It lists just 15 medical programs nationwide that are housed outside of children’s hospitals that accept Down syndrome patients who are 30 years of age or older.
The United States had about three times more adults with the condition by 2016 than it did in 1970. This is mainly because babies born with the condition are no longer denied life-saving care, including surgeries to correct birth defects .
Adults with Down syndrome often suffer from chronic health problems, such as severe sleep apnea, digestive disorders, thyroid disease, and obesity. Many people get Alzheimer’s disease middle aged. Researchers believe this is related to extra copies of genes that cause an overproduction of proteins that build up in the brain.
“Children’s care is a completely different game than adult care,” said Peterson, a nurse practitioner at the University of Kansas.
Sammee Lesmeister is an example of the trend towards longer life spans. If she had been born two generations ago, she might have died in infancy.
She had a hole in the wall of her heart, as do half of the children with Down syndrome. Surgeons can repair those serious defects, but in the past, doctors advised most families to forego surgery, or said children were not eligible. Many people with Down syndrome have also been denied care because of serious breathing problems, gastrointestinal problems, or other chronic conditions. People with disabilities are often placed in institutions. Many were sterilized without their consent.
Such mistreatment eased from the 1960s to the 1980s, as people with disabilities advocated for their rights, medical ethics advanced, and Courts have declared it illegal to withhold sponsorship. “These landmark rulings seal the deal: Children with Down syndrome have the right to the same life-saving treatment that any other child deserves,” said Brian Skotko, a Harvard medical geneticist who leads the Down syndrome program at Massachusetts General Hospital.
The life expectancy of a child born in the United States with Down syndrome jumped from about four years in 1950 to 58 years in 2010, 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 had surpassed 217,000, including tens of thousands of people in middle age or later.
The report says that population growth is expected to continue. Several thousand pregnant women each year now choose abortions after learning they carry fetuses with Down syndrome. But those reductions are offset by the growing number of women who become pregnant in their late 30s or 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. He said that many medical students only learn about the condition during training in treating pediatric patients.
Few patients can travel to specialized clinics like the Skotko Program in Boston. To help those who cannot, he established an online service, Down syndrome clinic for youhelping families and medical practitioners understand complications and possible treatments.
‘If they say it hurts, I listen’
Charlotte Woodward, who has Down syndrome, is a prominent advocate for improving care. She counts herself among the tens of thousands of adults with the condition who will likely die years ago without proper treatment. Woodward, 33, of Fairfax, Virginia, had four heart surgeries as a child and then a heart transplant in her 20s.
Woodward, who is involved in an education program for the National Down Syndrome Association, has campaigned to end discrimination against People with disabilities who need organ transplantation.
She said her primary care physician is excellent. But she felt treated like a child by other healthcare providers, who spoke to her parents instead of during appointments.
She said that many general practice physicians know little about adults with Down syndrome. “This is something that has to change,” she said. “It’s not just pediatricians who should be aware of these things.”
Woodward said adults with this condition should not be expected to seek care in programs set up in children’s hospitals. She said the country should set up more specialized clinics and fund more research into health problems that affect people with disabilities as they age. “This is actually a civil rights issue,” she said.
Advocates and clinicians say it is critical for health care providers to communicate as much as possible with patients with disabilities. That can lead to long appointments, said Brian Shequin, the family physician who leads the hospital Adult Down Syndrome Center from Advocate Aurora Health In Park Ridge, Illinois, near Chicago.
“It is very important for us to include 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. It all takes longer.”
Time costs money, which Peterson believes is why many hospital systems haven’t created specialty clinics like the ones she and Shikuin run.
Peterson’s methodical approach was evident when she saw new patients one recent afternoon at her Kansas City clinic. She often spends an hour at each initial appointment, speaking directly to patients and giving them a chance to share their thoughts, even if their vocabulary is limited.
Among her patients that day was Christopher Yu, 44, who lives 100 miles away in the small town of Hartford, Kansas. Yu became unable to swallow solid food, and lost 45 pounds over the course of about a year and a half. He complained to his mother, Mandy Nance, that something “tickled” in his chest.
During his exam, he lifts his shirt to Peterson, revealing the scar where he underwent heart surgery as an infant. He frowned, pointed at his chest, and repeated the word “gas” over and over.
Peterson looked Yu in the eye as she asked him and his mother about his uneasiness.
The nurse takes any complaints from her patients seriously. “If they say it hurts,” she said, “I listen.” “They won’t tell you about it until it hurts really bad.”
Yu’s mother took him to a cardiologist and other specialists, but none determined what was wrong.
Peterson asked many questions. When does yo feel uncomfortable? Does it have anything to do with what he eats? How is he sleeping? What does his stool look like?
After his appointment, Peterson referred Yu to a cardiologist who specializes in adults with congenital heart problems. She orders a swallow test, in which Yu drinks a special liquid that appears on scans as he goes down. She recommended testing for celiac disease, an autoimmune disorder that interferes with digestion and is common in people with Down syndrome. No one ever told Nance about the dangers.
Nance, a registered nurse, said afterward that she didn’t know what the future held for their families. But she was amazed at the patience and attention Peterson and the other clinic staff gave her son. She said such treatment is rare. “I feel like it’s a godsend,” she said. “I feel like an answered prayer.”
Like a human, not a condition.
Peterson serves as the primary caregiver for some of her patients with Down syndrome. But for many others, especially those who live far away, she is someone to consult when complications arise. This is how Lesmeisters uses her clinic.
Mom Marilyn is optimistic that Sami can lead a fulfilling life in his community for years to come. Some people said I need to put her in a house. And I’m like, ‘What do you mean?’ And they said, ‘You know — a house,'” she said.
Sami’s sister, who lives in Texas, has agreed to take her in when her parents grow up to foster 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 her to be taken care of and love her like I love her,” she said. “I want her to be taken care of as a person, not a condition.”
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