Skip to Main Content

Down Syndrome: Chromosome Number 21 Is Just the Beginning

An expecting mother is told that her baby has trisomy 21 but doesn't understand exactly what that means. Dr. Tuckson talks about Down Syndrome with Julie Torzewski, executive director of Down Syndrome of Louisville.
Season 18 Episode 4 Length 27:47 Premiere: 10/23/22

About

Join host Dr. Wayne Tuckson, a colorectal surgeon, as he interviews experts from around the state to discuss health topics important to Kentuckians.


Funding for this program is made possible in part by:


About the Host

A native of Washington, D.C., Dr. Wayne Tuckson is a retired colon and rectal surgeon based in Louisville. For more than 20 years, he has served as host for Kentucky Health, a weekly program on KET that explores important health issues affecting people across the Commonwealth. A graduate of Howard University School of Medicine, Tuckson is a past president of the Greater Louisville Medical Society and is a recipient of the Community Service Award from the Kentucky Medical Society, the Thomas J. Wallace Award for “Leadership in Promoting Health Awareness and Wellbeing for the Citizens of Jefferson County” given by the City of Louisville and the Lyman T. Johnson Distinguished Leadership Award given by the Louisville Central Community Centers.

Better Medical Treatments and Assistance Programs Lead to Longer and Richer Lives for Persons with Down Syndrome

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.”

Sponsored by:

Season 18 Episodes

Nursing Homes: Ensuring That Critical Needs Are Met

S18 E26 Length 26:41 Premiere Date 05/07/23

The Environment and Cardiovascular Disease

S18 E25 Length 27:01 Premiere Date 04/30/23

Domestic Violence Is a Public Health Issue

S18 E24 Length 26:40 Premiere Date 04/23/23

Public Health: Good Policy, Good Sense

S18 E23 Length 26:37 Premiere Date 04/16/23

Preventing Deaths from Coronary Artery Disease

S18 E22 Length 26:32 Premiere Date 04/09/23

Anesthesia: You Won’t Feel a Thing

S18 E21 Length 26:31 Premiere Date 04/01/23

Food: It Does A Body Good

S18 E20 Length 26:32 Premiere Date 03/25/23

Physicians: A Trusted Source for Healthcare

S18 E19 Length 26:31 Premiere Date 03/19/23

Treatment of Substance Abuse: It's Complicated

S18 E18 Length 26:32 Premiere Date 02/26/23

Causes and Impact of LGBTQ+ Health Inequity

S18 E17 Length 26:32 Premiere Date 02/19/23

The Science of Sleeping Better

S18 E16 Length 28:11 Premiere Date 02/12/23

Working Together: State Public Health Policies

S18 E15 Length 27:15 Premiere Date 02/05/23

Sports Medicine: It's Not Just for the Athlete

S18 E14 Length 27:48 Premiere Date 01/29/23

Diabetes: It's Not Just Your Fathers' Insulin

S18 E13 Length 27:49 Premiere Date 01/22/23

Vaccinations: The Good, the Bad, the Misconceptions

S18 E12 Length 27:47 Premiere Date 01/15/23

Birth Control: Methods to Prevent Conception

S18 E11 Length 27:49 Premiere Date 01/08/23

Diet and Nutrition: The Halos and Horns of Our Food

S18 E10 Length 27:48 Premiere Date 12/18/22

Preventing Infections Through Wastewater Surveillance

S18 E9 Length 27:50 Premiere Date 12/11/22

Insects: Most Are Good, But Watch the Bad

S18 E8 Length 26:57 Premiere Date 11/20/22

Melanomas: The Consequence of Too Much Sun

S18 E7 Length 26:48 Premiere Date 11/13/22

Healthy Practices: Inform, Cajole or Mandate, Whatever Works

S18 E6 Length 27:49 Premiere Date 11/06/22

Diverticulosis: Little Pouches, Big Problems

S18 E5 Length 27:49 Premiere Date 10/30/22

Down Syndrome: Chromosome Number 21 Is Just the Beginning

S18 E4 Length 27:47 Premiere Date 10/23/22

COVID-19, Monkeypox, and Sexually Transmitted Diseases

S18 E3 Length 27:06 Premiere Date 10/16/22

Over the Counter Medications

S18 E2 Length 27:18 Premiere Date 10/09/22

Meeting Medical Supply Needs at Home and Overseas

S18 E1 Length 27:19 Premiere Date 10/02/22

See All Episodes

caret down

TV Schedules

Jump to Recent Airdates

Upcoming

Markey Cancer Center: Changing Cancer Treatment in Kentucky and the World - S19 E18

Surgical oncologist Dr. Mark Evers discusses new trends in cancer treatment. A 2024 KET production.

  • Monday February 26, 2024 2:00 pm ET on KET2
  • Monday February 26, 2024 1:00 pm CT on KET2
  • Wednesday February 28, 2024 11:00 am ET on KETKY
  • Wednesday February 28, 2024 10:00 am CT on KETKY
  • Friday March 1, 2024 1:30 pm ET on KETKY
  • Friday March 1, 2024 12:30 pm CT on KETKY
  • Sunday March 3, 2024 12:30 am ET on KETKY
  • Saturday March 2, 2024 11:30 pm CT on KETKY
  • Sunday March 3, 2024 9:00 am ET on KETKY
  • Sunday March 3, 2024 8:00 am CT on KETKY

Cannabis: The Hype, the Reality, and the Potential - S19 E5

The study of marijuana is hampered by state and federal regulations, and limited funding. What data is known about safety, efficacy and long-term effects? Dr. Shanna Babalonis talks about the changing role of marijuana in society and healthcare. A 2023 KET production.

  • Sunday March 3, 2024 5:30 pm ET on KETKY
  • Sunday March 3, 2024 4:30 pm CT on KETKY
  • Monday March 4, 2024 2:00 pm ET on KET2
  • Monday March 4, 2024 1:00 pm CT on KET2
  • Wednesday March 6, 2024 11:00 am ET on KETKY
  • Wednesday March 6, 2024 10:00 am CT on KETKY
  • Friday March 8, 2024 1:30 pm ET on KETKY
  • Friday March 8, 2024 12:30 pm CT on KETKY
  • Sunday March 10, 2024 12:30 am ET on KETKY
  • Saturday March 9, 2024 11:30 pm CT on KETKY
  • Sunday March 10, 2024 9:00 am ET on KETKY
  • Sunday March 10, 2024 8:00 am CT on KETKY

Alzheimer's Disease and Related Dementia - S19 E6

Neurologist Dr. Gregory Cooper talks about dementia and Alzheimer's disease. A 2023 KET production.

  • Sunday March 10, 2024 5:30 pm ET on KETKY
  • Sunday March 10, 2024 4:30 pm CT on KETKY
  • Monday March 11, 2024 5:30 am ET on KET2
  • Monday March 11, 2024 4:30 am CT on KET2
  • Monday March 11, 2024 2:00 pm ET on KET2
  • Monday March 11, 2024 1:00 pm CT on KET2
  • Wednesday March 13, 2024 11:00 am ET on KETKY
  • Wednesday March 13, 2024 10:00 am CT on KETKY
  • Friday March 15, 2024 1:30 pm ET on KETKY
  • Friday March 15, 2024 12:30 pm CT on KETKY
  • Sunday March 17, 2024 12:30 am ET on KETKY
  • Saturday March 16, 2024 11:30 pm CT on KETKY
  • Sunday March 17, 2024 7:00 am ET on KET2
  • Sunday March 17, 2024 6:00 am CT on KET2
  • Sunday March 17, 2024 9:00 am ET on KETKY
  • Sunday March 17, 2024 8:00 am CT on KETKY

Climate Change: A Change in Our Health - S19 E19

Meteorologist Tawana Andrew talks about how climate change is affecting our health. A 2024 KET production.

  • Sunday March 17, 2024 1:30 pm ET on KET
  • Sunday March 17, 2024 12:30 pm CT on KET
  • Sunday March 17, 2024 5:30 pm ET on KETKY
  • Sunday March 17, 2024 4:30 pm CT on KETKY
  • Monday March 18, 2024 2:00 pm ET on KET2
  • Monday March 18, 2024 1:00 pm CT on KET2
  • Wednesday March 20, 2024 11:00 am ET on KETKY
  • Wednesday March 20, 2024 10:00 am CT on KETKY
  • Friday March 22, 2024 1:30 pm ET on KETKY
  • Friday March 22, 2024 12:30 pm CT on KETKY
  • Sunday March 24, 2024 12:30 am ET on KETKY
  • Saturday March 23, 2024 11:30 pm CT on KETKY
  • Sunday March 24, 2024 7:00 am ET on KET2
  • Sunday March 24, 2024 6:00 am CT on KET2
  • Sunday March 24, 2024 9:00 am ET on KETKY
  • Sunday March 24, 2024 8:00 am CT on KETKY

RSV, COVID and Influenza - S19 E20

Infectious disease specialist Dr. Mark Burns discusses Respiratory Syncytial Virus (RSV), COVID-19 and influenza. A 2024 KET production.

  • Sunday March 24, 2024 1:30 pm ET on KET
  • Sunday March 24, 2024 12:30 pm CT on KET
  • Sunday March 24, 2024 5:30 pm ET on KETKY
  • Sunday March 24, 2024 4:30 pm CT on KETKY
  • Monday March 25, 2024 2:00 pm ET on KET2
  • Monday March 25, 2024 1:00 pm CT on KET2
  • Wednesday March 27, 2024 11:00 am ET on KETKY
  • Wednesday March 27, 2024 10:00 am CT on KETKY
  • Friday March 29, 2024 1:30 pm ET on KETKY
  • Friday March 29, 2024 12:30 pm CT on KETKY
Jump to Upcoming Airdates

Recent

Markey Cancer Center: Changing Cancer Treatment in Kentucky and the World - S19 E18

  • Sunday February 25, 2024 5:30 pm ET on KETKY
  • Sunday February 25, 2024 4:30 pm CT on KETKY
  • Sunday February 25, 2024 1:30 pm ET on KET
  • Sunday February 25, 2024 12:30 pm CT on KET

Sustainability: Government, Corporate, and Public Cooperation - S19 E17

  • Sunday February 25, 2024 9:00 am ET on KETKY
  • Sunday February 25, 2024 8:00 am CT on KETKY
  • Sunday February 25, 2024 7:00 am ET on KET2
  • Sunday February 25, 2024 6:00 am CT on KET2
  • Sunday February 25, 2024 12:30 am ET on KETKY
  • Saturday February 24, 2024 11:30 pm CT on KETKY
  • Friday February 23, 2024 1:30 pm ET on KETKY
  • Friday February 23, 2024 12:30 pm CT on KETKY
  • Monday February 19, 2024 2:00 pm ET on KET2
  • Monday February 19, 2024 1:00 pm CT on KET2
  • Sunday February 18, 2024 5:30 pm ET on KETKY
  • Sunday February 18, 2024 4:30 pm CT on KETKY
  • Sunday February 18, 2024 1:30 pm ET on KET
  • Sunday February 18, 2024 12:30 pm CT on KET

Federally Qualified Health Centers: More Than a Safety Net - S19 E16

  • Sunday February 18, 2024 9:00 am ET on KETKY
  • Sunday February 18, 2024 8:00 am CT on KETKY
  • Sunday February 18, 2024 7:00 am ET on KET2
  • Sunday February 18, 2024 6:00 am CT on KET2
  • Sunday February 18, 2024 12:30 am ET on KETKY
  • Saturday February 17, 2024 11:30 pm CT on KETKY
  • Friday February 16, 2024 1:30 pm ET on KETKY
  • Friday February 16, 2024 12:30 pm CT on KETKY
  • Wednesday February 14, 2024 11:12 am ET on KETKY
  • Wednesday February 14, 2024 10:12 am CT on KETKY
  • Monday February 12, 2024 2:00 pm ET on KET2
  • Monday February 12, 2024 1:00 pm CT on KET2
  • Sunday February 11, 2024 5:30 pm ET on KETKY
  • Sunday February 11, 2024 4:30 pm CT on KETKY
  • Sunday February 11, 2024 1:30 pm ET on KET
  • Sunday February 11, 2024 12:30 pm CT on KET

Government Sponsored Health Insurance: Value and Promise - S19 E15

  • Sunday February 11, 2024 9:00 am ET on KETKY
  • Sunday February 11, 2024 8:00 am CT on KETKY
  • Sunday February 11, 2024 7:00 am ET on KET2
  • Sunday February 11, 2024 6:00 am CT on KET2
  • Sunday February 11, 2024 12:30 am ET on KETKY
  • Saturday February 10, 2024 11:30 pm CT on KETKY
  • Friday February 9, 2024 1:30 pm ET on KETKY
  • Friday February 9, 2024 12:30 pm CT on KETKY
  • Wednesday February 7, 2024 11:22 am ET on KETKY
  • Wednesday February 7, 2024 10:22 am CT on KETKY
  • Monday February 5, 2024 2:00 pm ET on KET2
  • Monday February 5, 2024 1:00 pm CT on KET2
  • Sunday February 4, 2024 5:30 pm ET on KETKY
  • Sunday February 4, 2024 4:30 pm CT on KETKY
  • Sunday February 4, 2024 1:30 pm ET on KET
  • Sunday February 4, 2024 12:30 pm CT on KET

The Unspoken and Misunderstood Stigma of Eating Disorders - S19 E14

  • Sunday February 4, 2024 9:00 am ET on KETKY
  • Sunday February 4, 2024 8:00 am CT on KETKY
  • Sunday February 4, 2024 7:00 am ET on KET2
  • Sunday February 4, 2024 6:00 am CT on KET2
  • Sunday February 4, 2024 12:30 am ET on KETKY
  • Saturday February 3, 2024 11:30 pm CT on KETKY
  • Friday February 2, 2024 1:30 pm ET on KETKY
  • Friday February 2, 2024 12:30 pm CT on KETKY
  • Wednesday January 31, 2024 11:00 am ET on KETKY
  • Wednesday January 31, 2024 10:00 am CT on KETKY
  • Monday January 29, 2024 2:00 pm ET on KET2
  • Monday January 29, 2024 1:00 pm CT on KET2
  • Sunday January 28, 2024 5:30 pm ET on KETKY
  • Sunday January 28, 2024 4:30 pm CT on KETKY
  • Sunday January 28, 2024 1:30 pm ET on KET
  • Sunday January 28, 2024 12:30 pm CT on KET

Bariatric Surgery: Surgical Intervention for a Chronic Illness - S19 E13

  • Sunday January 28, 2024 9:00 am ET on KETKY
  • Sunday January 28, 2024 8:00 am CT on KETKY
  • Sunday January 28, 2024 7:00 am ET on KET2
  • Sunday January 28, 2024 6:00 am CT on KET2
  • Sunday January 28, 2024 12:30 am ET on KETKY
  • Saturday January 27, 2024 11:30 pm CT on KETKY
  • Friday January 26, 2024 1:30 pm ET on KETKY
  • Friday January 26, 2024 12:30 pm CT on KETKY
Top

Explore KET