Russ Beaty of Traverse City, Mich., vividly remembers the day in 1972 that his daughter Jennifer was born. Beaty and his wife were advised to put their infant into an institution where she could be cared for “properly.” But they ignored this advice and took Jennifer home, where — in spite of multiple medical problems and numerous trips back to the hospital — she thrived. “We raised her the same way that we raised her brothers,” Beaty says.

Today Jennifer lives near her parents in a community living center. Staff assist her in perfecting her living skills such as doing her laundry, planning and cooking meals and using public transportation to get to her part-time job in a sheltered work setting. Jennifer hopes eventually to move to a more independent living situation.

Jennifer’s outcome has been undoubtedly better than had she been institutionalized. And the outlook for a high quality life for a child born today with Down syndrome is even more positive, says Leigh Zoellick, project coordinator for the Institute on Disability/UCED at the University of New Hampshire, and parent of a son with Down syndrome.

“It is generally expected that children [with Down syndrome] will be educated, with support, in regular classrooms [and] that they will hold down jobs as adults,” Zoellick says. “Some adults with Down syndrome marry, drive cars [and] live independently.”

How can you help your child with Down syndrome achieve his or her full potential? Most experts believe it’s important to learn everything you can about the disability so you can advocate for appropriate and quality support as your child grows and develops.

People born with Down syndrome have a chromosomal abnormality. Although there are three types of chromosomal abnormalities identified as causes of Down syndrome, the most common is “trisomy 21,” which is an extra chromosome on the 21st pair of chromosomes. This means that there are 47 chromosomes in each cell rather than the usual 46. There are approximately 4,000 children with Down syndrome born in the United States each year, or about one in 800 to 1,000 live births.

Individuals with Down syndrome have a variety of distinguishable physical characteristics (but not necessarily all of them), including:

• Hypotonia, or reduced muscle tone
• Slanting eyelids with small skin folds (called epicanthal folds) at the inner corners
• Small head with flattening of the back of the head
• Flat bridge of the nose
• Smaller, low-set ears
• Small mouth
• Small hands and feet
• A line or crease across the palm of one or both hands
• A gap between the first and second toes

 

Individuals with Down syndrome are usually of short stature, and their physical development is slower than might be expected. They have varying degrees of intellectual disability, too, from mild to severe.

Children with Down syndrome need the same medical care that all children do, such as well baby visits and immunizations. But most individuals with Down syndrome have special medical needs, too. Common medical problems among individuals with Down syndrome include:

More than half of children with Down syndrome have some type of hearing problem. Early testing will identify and treat problems that can interfere with speech development.

Eye disorders are common among individuals with Down syndrome, including strabismus (imbalance of eye muscles causing eyes not to focus in tandem), refractive errors (nearsightedness or farsightedness), cataracts and glaucoma. Regular eye exams beginning in infancy will help treat any identified problems.

Slightly less than half of children with Down syndrome are born with heart defects. Not all of these defects result in readily apparent symptoms, so it’s important that all children born with Down syndrome have an echocardiogram by the third month of life.

About 10 percent of children with Down syndrome have hypothyroidism, which is a malfunction of the thyroid gland. This results in less production of thyroxin, a hormone that helps the brain and other body tissue grow. Testing for hypothyroidism should be done at birth and at least every two years thereafter.

Intestinal problems such as blockage of the esophagus (food pipe), small bowel or anus are more common among individuals with Down syndrome. There is also a higher likelihood of Hirschsprung’s disease, a disorder in which the nerves that control the function of the colon (large bowel) are absent. This results in severe constipation.

Those children with severe heart disease may have difficulty getting enough nutrition to gain weight. Later in life, during adolescence and young adulthood, obesity can be a problem for many individuals with Down syndrome. Nutritional guidance can help offset these problems.

Children with Down syndrome have an increased risk of kneecap or hip dislocation and also a condition called atlantoaxial instability, which is a condition that results from a misalignment of the first two neck bones due to loose ligaments. Screening should be done to detect these problems.

You can find more information about recommended health screenings for children with Down syndrome on the American Academy of Pediatrics’ website.

It may take time to adjust to the idea that your child was born with a disability. Family support groups can help you find current information about your child’s condition, offer support and help with resources, says David Finn, director of special education for Samford University in Birmingham, Ala.

Zoellick agrees. When her son Peter was small, she enjoyed meeting with other parents of children with Down syndrome. “I lived for that connection,” she says. Now that her son is older, Zoellick feels less need for an ongoing support group, but she still reaches out to other parents for help with particular parenting issues.

For help locating a parent support group in your area, contact the National Down Syndrome Society (NDSS) at (800) 221-4602.

Early intervention is a program that helps children with an identified disability in all areas of development, including gross and fine motor skills, language development, social development and self-help skills. A specialized team of professionals assesses your child’s needs and designs a program specifically for him or her.

“Early intervention is critically important for those children with Down syndrome, as it is with other children having delays in development,” says Riva McLernon, a speech-language pathologist who works with young children in the Burlington Township school system in New Jersey.

Early intervention should begin shortly after birth and continue until your child is ready for a preschool program (generally at 3 years old). To find an early intervention program near you, contact your local elementary school or hospital or contact NDSS.

As your child grows older, he should be able to attend a traditional preschool and, later, elementary and secondary school, though he may need support to be able to do so. According to Finn, given the chance, most children with Down syndrome can learn more than we may think. “The exciting thing about Down syndrome is that we are learning more and more every day about what is possible,” Finn says.

Children with Down syndrome need to learn the skills necessary for a high quality employment outcome, whether it is in a sheltered work setting, supported work setting (where a job coach helps with job skills at a community job until they are mastered) or competitive work within the community.

There are also decisions to be made about housing, whether it is a group living situation, a semi-independent setting or an independent setting. While some individuals with Down syndrome continue living with their parents beyond adulthood, many parents believe it’s important for their child to have his or her own living arrangement.

Janet Smith of Birmingham, Ala., parent of 32-year-old Kerry, who has Down syndrome, is struggling with this issue. Although Kerry is happy living with Janet and enjoys his participation in a group recreational program during the day while Janet is working, Janet wonders if this is the best situation. “As he gets older and I get older, I’m wondering about where the best placement is,” Smith says.

Although Smith and her son have not yet found the answer to their own housing dilemma, she is happy that there are more — and better — choices for people with Down syndrome today, in all aspects of life. “It’s a whole new world out there,” she says.