Experts: People with Down Syndrome “Able to Do Anything, But at a Different Rate”

Children and adults with Down syndrome (DS) are born with an extra copy of the body’s 21st chromosome. Just a few decades ago, people with DS were not expected to survive, much less thrive, past the age of 25. Today, the life expectancy of this population has reached age 60, with many enjoying their senior years. The milestones for children and the achievements of adults with this genetic condition far exceed earlier assumptions.

Abilities of people with Down syndrome

With advances in medicine and the societal treatment of this population, many individuals with DS are now getting educated, employed and married. They are no longer isolated nor institutionalized. People living with Down syndrome are advocating for themselves and living full lives.

The message from the Down syndrome community is clear. They want support and understanding and more opportunities to prove their capabilities as independent individuals. 

“The biggest misconception that people have is that those with Down syndrome can’t do pretty much anything that individuals without Down syndrome can,” says Ignacio Tapia, M.D., a pediatric pulmonologist with the University of Miami Health System, who specializes in treating children with DS. 

“I think that these patients are actually able to do anything, but at a different rate. Some of them will pick things up pretty fast, and some with a little more time. But I don’t think that children with Down syndrome are significantly different than the rest of the population,” he says. “Because of this big misconception, they often don’t get to receive the same medical treatment that other children can.”

Health complications associated with Down syndrome

Down syndrome causes anatomical and intellectual differences that affect physical appearance and movement as well as development, breastfeeding, speaking and information processing. This genetic condition raises the risk for other medical disorders, including congenital heart defects, leukemia, thyroid problems and seizures.

Children and adolescents with DS are far more likely than the general pediatric population to have breathing disorders, including obstructive sleep apnea and asthma, that may require surgical intervention or long-term therapies.

“Typically, families with a child with Down syndrome come to me because they went to other providers who told them that their child with sleep apnea cannot handle a CPAP [breathing assistance device used during sleep]. They’re told that it’s too much for their child, and they just have to live with sleep apnea,” Dr. Tapia says. “This is unsafe for the child and totally untrue.”  

Expert advice for expectant parents

Each year, about 5,700 babies are born with Down syndrome in the U.S.  

“With noninvasive prenatal screenings becoming more mainstream, many pregnant women are receiving a potential diagnosis of Down syndrome,” says Willa Leanah Thorson, M.D., a clinical geneticist with UHealth. She often consults with parents who just learned their baby will be born with DS.

“I have heard countless times, from both my patients and my friends who have children with DS, that one of the hardest things they have dealt with was the constant pressure to terminate their pregnancy,” she says. “Whether it came from friends, family, or the medical professionals they interacted with, this made them feel like their future child would be a burden to their family and society.” 

Dr. Thorson counsels expectant parents with her unique combination of medical expertise and personal experience. One of her sons, now 11 years old, was born with Down syndrome. When she was pregnant, she was a genetics fellow, and her spouse was training to become a pediatric surgeon. 

“We should have known ‘everything’ about Down syndrome,” Dr. Thorson says. “But, we didn’t have any idea how normal our life would be. Our son goes to school, has two younger brothers (to whom he’s the best big brother), is so kind and loving and loved by so many people. Our Saturdays are filled with his activities — swimming, dance class and soccer.

“Our son has made our lives so much better, and we are both better doctors because of him,” Dr. Thorson says. “He is definitely not a burden to us or to society. We have high hopes for him for the future and know that he will make a positive impact on this world.”

As a result, Dr. Thorson has changed her approach to counseling new parents with questions and concerns — or misconceptions — about raising a child with DS.

“I emphasize that this is no one’s fault,” she says. “Nothing that Mom or Dad did or didn’t do during the pregnancy caused DS. There was nothing that could have prevented this.

“I tell them that life will be different, but that does not mean it will be worse. The beginning may be challenging, with lots of medical and therapy appointments, but those eventually become part of ‘the norm’ and get integrated into everyday life,” she says. “My expectation for their child is that he/she will walk, talk, be toilet trained and go to school (as the majority of children with DS achieve these milestones), but it may be in their own time.” 

Their child will have strengths and weaknesses, like any child, and our goal (together) will be to maximize those strengths and work on those weaknesses.” — Dr. Willa Thorson

Families in this situation often report feeling isolated. Dr. Thorson assures parents that this condition does not define their child nor their family. 

“It’s important to let them know that they’re not alone,” says Dr. Tapia. “Our medical system includes people who specialize in DS or in related specialties. And there are local and national support groups. If parents of a newborn with DS came to me with concerns, I would explain to them how the life expectancy has improved, medical services have changed, and society has become more inclusive.”

Down syndrome and independence

“Sometimes, when parents see their child with a disability in distress, they tend to be overprotective,” Dr. Tapia says. “But, part of becoming an adult is learning to live with frustration. We should teach all children that frustration is normal. It’s all about how we react in these situations. It’s a skill they need to develop through exposure.”

When one of Dr. Tapia’s two-year-old patients with DS was learning to walk with a physical therapist, the child needed to be in a walker, like a treadmill that’s adapted for this therapy. 

“She had to walk and walk and walk until the physical therapy team got the test results,” he says. “The girl started to cry a bit because she was frustrated. This is something that’s difficult for her. That’s why we were working to help her do this. I told her mother, ‘This is something that she just has to do, little by little.’ With time, the patient learned how to use the treadmill, and now she walks all over.”

This same approach — pairing patience with the potential for overcoming challenges — can be helpful for anyone who works with, cares for, or socializes with people with Down syndrome. 

“When you encounter an individual with DS, don’t assume that they are totally different from you,” Dr. Tapia says. “This is a problem that’s reported to me by many families. One family with a boy with DS and his sister, who doesn’t have the condition, came in for a visit. His sister, who was maybe 10 years old, told me that when they are together on the playground, the other kids assume that her brother doesn’t ‘get anything.’ They say, ‘So, this is how you get onto the slide’ or how to use whatever thing they are playing with. And his sister told me, ‘It’s so ridiculous because they should just talk to him normally, like I do.’”

Dr. Thorson understands from personal experience that people with Down syndrome “want to be independent and often get upset or offended if not given the opportunity to do so.”

“I think the majority of those who care for someone with DS want to support their independence and ‘let them fly,’ but are met with pushback from a society that sees these individuals as burdensome and unable to contribute.

“Having a society more accepting of these individuals will make families very happy and will push us to push our children more towards independence,” Dr. Thorson says. “We are very used to protecting these individuals, so there will need to be a culture shift within the DS community to allow these individuals to have that independence. Just as the parents of a typical child need to ‘let go’ at some point, we will need to allow our children/adults to go out in the world, get a job and live independently/semi-independently, but always be there to help if or when they need it.

“I am amazed by so many individuals with DS whom I have met,” she says. “Their courage in advocating for themselves and their friends, their ability to speak in public, and their resilience is something that we should all strive to emulate.”

Dana Kantrowitz is a contributor for UHealth’s news service.

Originally published on: March 21, 2023

Tags: developmental delay, down syndrome, Dr Willa Leanah Thorson, Dr. Ignacio Tapia, living with Down Syndrome, overcome challenges