The U.S. had about three times as many adults with Down syndrome by 2016 as it did in 1970.
MONTROSE, Mo. — It took Samantha Lesmeister’s family four months to find a medical professional who could see that she was struggling with something more than 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-practice doctors 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 special medical clinic for adults with Down syndrome. Most other Down syndrome programs nationwide focus on children, even though many people with the condition now live into middle age and often develop health problems typically associated with seniors. And most of the clinics that focus on 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, carefully examined Sammee Lesmeister and ordered more tests.
“She reassured me that, ‘Mom, you’re right. Something’s wrong with your daughter,’” Marilyn Lesmeister said.
With the help of a second neurologist, Peterson determined 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 steady support.
Sammee, 26, can again speak a few words, including “hi,” “bye,” and “love you.” She smiles and laughs. She likes to go out into her rural community, where she helps choose meals at restaurants, attends horse-riding sessions at a stable, and folds linens 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 within herself,” her mother said. “I think she would have been a stay-at-home person and a recluse.”
“A Whole Different Ballgame”
The Lesmeisters wish Peterson’s program wasn’t such a rarity. A directory published by the Global Down Syndrome Foundation lists just 15 medical programs nationwide that are housed outside of children’s hospitals and that accept Down syndrome patients who are 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. Researchers suspect this is related to extra copies of genes that cause overproduction of proteins, which build up in the brain.
“Taking care of kids is a whole different ballgame from taking care of adults,” said Peterson, the University of Kansas nurse practitioner.
Sammee Lesmeister is an example of the trend toward longer life spans. If she’d been born two generations ago, she probably would have died in childhood.
She had 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, or said the children didn’t qualify. Many people with Down syndrome also were denied care for serious breathing issues, digestive problems, or other chronic conditions. People with disabilities were often institutionalized. Many were 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 University medical 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 in 1950 to 58 years 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 extraordinary 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.
Few patients can travel to specialized clinics like Skotko’s program in Boston. To help those who can’t, he founded an online service, Down Syndrome Clinic to You, which helps families and medical practitioners understand the complications and possible treatments.
“If They Say it Hurts, I Listen”
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. Woodward, 33, of Fairfax, Virginia, had four heart surgeries as a child and then a heart transplant in her 20s.
Woodward, who is an education program associate for the National Down Syndrome Society, has campaigned to end discrimination against people with disabilities who need organ transplants.
She said her primary care doctor is excellent. But she has felt treated like a child by other health care providers, who have spoken to her parents instead of to her during appointments.
Source : NBC News