On this episode of Kentucky Health, host Dr. Wayne Tuckson welcomes Julie Torzewski, the executive director of Down Syndrome of Louisville (DSL). She discusses how Down syndrome is diagnosed, its effects, and significant advances made in treating and helping people with the genetic condition.
Improvements in Treating a Relatively Common Genetic Condition
Down syndrome is the second most common birth defect among infants in the United States, affecting roughly one in 700 newborns. Most cases of Down syndrome are caused by an extra chromosome added to the 46 that babies are typically born with, called Trisomy 21. A smaller number of cases are caused by a partial copy of the 21st chromosome attached to another chromosome.
The extra chromosome affects how an infant develops physical features and cognitive abilities as they grow into adulthood. For example, Torzewski says about half of children born with Down syndrome have heart problems that can be corrected through surgery before age three.
“The life expectancy for Down syndrome in 1980 was only 35 years old, and a lot of that had to do with kids not getting the heart surgery they needed when they were young,” she says. “But since medical advances and opportunities have grown for them to get the health care that they should as children, they’re now living up to age 60. That’s the average expectancy.”
Other effects of Down syndrome are caused by relaxed muscle tone, which can cause difficulties with movement and speech. Children with Down syndrome usually also score in the moderate to low range on IQ tests, and Torzewski says that about 30 percent of those using programs at DSL have autism. But she adds that, with assistance, children born with Down syndrome are able to develop on their own timelines and become young adults who fully participate in society.
“We say that we always hit our milestones, but it’s just going to take (kids) a little longer to get there,” she notes.
Contrary to a common myth, people with Down syndrome are not always happy. Torzewski says they possess the full range of emotions: As toddlers, they can be as grumpy as other toddlers, and as teenagers, they can have hormonal mood swings like other teens.
“Being in the moment – that’s (a quality) they have that I think is a gift, but it can serve them in good and bad ways,” she says. “They can stay deeper in their emotions sometimes when they’re grieving.”
Blood testing for Down syndrome is done during pregnancy, and parents are informed as to whether the fetus carries the extra chromosome. Once Down syndrome is confirmed, abortion is an option for ending the pregnancy, depending on local laws. Torzewski says in the 1950s and ‘60s, people questioned whether parents would even want to take a Down syndrome baby home, but now she says the number of children born with the condition in her organization’s service area has remained steady over the past decade.
“We know that they can live full and healthy lives, and most of our families will say that they are blessed to have them in their life,” says Torzewski. “So we want to make sure that people see that picture of Down syndrome before they make any decisions after testing.”
The emphasis on inclusion and mainstreaming people with Down syndrome is a recent trend according to Torzewski. Until the 1960s, most children with Down syndrome were institutionalized, she says, but much has changed since then. Now, members of DSL are encouraged to go to school with their peers and, as they grow older, engage in activities as part of everyday society.
“It’s still shocking to me that we have more adults with Down syndrome (participating) in society than we ever have,” says Torzewski. “It’s 2022, but we’re just now seeing them as functioning adults in our community, and I think that the social interaction with other people and with typical peers is what keeps them healthy and mentally focused.”
Helping Persons with Down Syndrome Lead Rewarding Lives
DSL serves 26 counties in Kentucky and Southern Indiana. According to Torzewski, it is the largest organization assisting people with Down syndrome in the world in terms of square footage and number of programs. It also has national accreditation.
Torzewski says she tells mothers who have given birth to babies with Down syndrome to be cognizant of the challenges this condition poses but not to become overwhelmed with anxiety or depression. She notes that every child born with the genetic condition is an individual and will possess a mixture of Down syndrome characteristics within a wide spectrum. Some may have to manage more physical defects as opposed to cognitive limitations or emotional difficulties, while the reverse may be true for others.
“Letting the baby guide (us) is the best way to handle it,” she says.
Once Down syndrome is confirmed in a fetus, medical offices within the region notify the future parents about the services offered by DSL. Torzewski says they will provide any information requested about services and about the disease in general, but she says they treat each family differently depending on their level of interest. Often, staff will meet the parents shortly after birth at the hospital, and establish a relationship that will last as long as the family desires.
“We have a family mentor program and we match up families based on diagnosis, or heart condition, or health condition, or area of town, whatever makes the most sense,” she says. “We match up (new parents) with someone who’s been there and can help direct them.”
DSL’s initial program, First Steps, begins around 45 days after birth and lasts until the child is age three. Under this state-funded program, developmental interventionalists (DIs) meet with families either weekly or biweekly to provide physical therapy as well as advise and offer support in other areas such as speech therapy. The focus then shifts to preschool support, as the young children take their initial steps toward integrating with the broader population.
Torzewski says that some DSL members have been living independently for more than 15 years. Persons who received more assistance and support during childhood generally have a better chance to live with some degree of independence as adults. Torzewski says those who can use technology to aid in daily planning and completing simple tasks also have an advantage.
“Some live completely independently in an apartment like you or I,” she says. “Some have an assistant person that’s on call for them 24 hours a day, or some live in group homes where they have more assistance.”
At DSL, members participate in what Torzewski calls “person-centered” job placement. Instead of directing folks to any job opening, the program strives to match members with positions that will appeal to their interests. For example, Torzewski says a young man recently landed a job at a comic book store.
Children with Down syndrome can remain in public education until age 21, and after that, DSL offers its own academy for adults to continue learning. Participants can engage in physical exercise, join group activities such as gardening and volunteering, and take individual elective classes.
“Parents often say that (our kids) have had all of this support through school, and then it just drops off and they’re sitting at home watching TV – and that’s what we don’t want,” Torzewski says. “They need their minds and bodies moving just like you and I do to keep them healthy.”
An important part of the DSL curriculum is relationship classes that help couples navigate the ups and downs of intimacy. Torzewski says that persons with Down syndrome have all of the emotional and sexual desires of anyone else, and many of them form long-term romantic pairings that enrich their lives.
DSL has continued to develop other programs for its members as they grow older. Torzewski notes that on average, persons with Down syndrome develop dementia around 20 years earlier than those without it.
“We start to see dementia in the 40s, and sometimes as early as the late 20s,” she says. “As our members age, we hope to keep them with us as long as possible, because we know that once they go into a facility full-time, that’s when unfortunately they start to regress more.”
According to Torzewski, the biggest misconception most folks have about individuals with Down syndrome is that they are severely limited by the disease. She says that some members at DSL are actors, competitive athletes, and models while others have attended college courses.
“They’re out to prove us wrong, and as far as ‘assume-abiity,’ assume that they can do it before you assume they can’t,” she says. “It’s not the same Down syndrome that you heard about when you were younger in the 1970s and 1980s. Every year it changes, and every year (persons with the disease) have more abilities because of the interventions that are offered.”
