Expert: People with Down Syndrome “Able to Do Anything, But at a Different Rate”
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Just a few decades ago, children born with Down syndrome (DS) were not expected to survive, much less thrive, past the age of 25. Today, the life expectancy of this group has reached age 60, and the milestones for children and the achievements of adults with this genetic condition far exceed earlier assumptions.
People with DS are born with an extra copy of the body’s 21st chromosome. This genetic distinction causes anatomical and intellectual differences that affect their appearance and the way they develop, breastfeed, speak, process information and move. The condition raises the risk for other medical disorders, including congenital heart defects, leukemia, thyroid problems, seizures and breathing disorders that can require surgical intervention or long-term therapies.
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 kept at home or institutionalized. They 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.
These young patients are far more likely than the general pediatric population to have breathing disorders, including obstructive sleep apnea and asthma.
“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, of course, unsafe for the child, and it’s totally untrue.
“I think that these patients are actually able to do anything, but at a different rate. Some of them will pick it 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.”
Willa Leanah Thorson, M.D., a clinical geneticist with UHealth, often consults with parents who just learned their baby will be born with DS.
“With non-invasive prenatal screenings becoming more mainstream in the prenatal setting, many women are receiving a potential diagnosis of DS.”
About 1 in every 700 babies is born with Down syndrome in the U.S. each year.
“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. Whether it be 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,” she says. “My counseling has changed over the years after having my own child with Down syndrome.”
When she was pregnant with her son with DS, now nine years old, Dr. Thorson was a genetics fellow married to a general surgery resident who was planning to become a pediatric surgeon.
“We should have known ‘everything’ about DS,” she 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,” she says. “Our Saturdays are filled with his activities — he has swimming, dance class, and soccer. He has made our lives so much better, and we are both better doctors because of him. 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.”
When Dr. Thorson counsels new parents with questions and concerns – or misconceptions – about raising a child with DS, she speaks to them with honesty and experience.
“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 their everyday lives,” 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 that they feel isolated.
“It’s important to let them know that they’re not alone,” says Dr. Tapia. “Our medical system includes people who are specialized in Down syndrome 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.”
Dr. Thorson assures parents that this condition does not define their child or their family.
“I emphasize that this is no one’s fault. Nothing that Mom or Dad did or didn’t do during the pregnancy caused DS. There was nothing that could have prevented this.”
How can we encourage the independence of people with DS while protecting them and supporting their development?
“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 Down syndrome 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.’ Finally, the patient did it with time. She 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.