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Navigating The Complex World Of Down Syndrome

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Navigating The Complex World Of Down Syndrome

By Larissa Lytwyn

Dr Laura Nowacki, a Newtown resident and local pediatrician, was once the kind of person who had everything in her life mapped according to plan, from her career in medicine to her role as a wife and mother.

Just over five years ago, however, Dr Nowacki’s perfectly organized world was transformed into a life she had never imagined. She learned that the child she was carrying had Trisomy 21; essentially, the 21st pair of the child’s 23 chromosomes had not divided, thus yielding a double-dose of genetic material.

This seemingly tiny variation spelled a condition of far greater physical and social significance: Dr Nowacki’s newborn son, Tommy, had Down syndrome.

“My first reaction was shock, and this deep, incredible sense of guilt and sadness,” Dr Nowacki said.

Dr Nowacki became pregnant with Tommy, now 6, when she was under the age of 35.

The odds of a mother under the age of 35 having a child with Down syndrome are relatively slim; mothers at age 35 have a one in 350 chance that their child will have the condition. The propensity for children having the condition increases with age. At age 40, the odds are about 1 in 100.

“Most women under the age of 35 obviously don’t screen for Down syndrome, because they don’t believe the odds are there,” said Dr Nowacki. “It was the last thing I had expected.”

At the time of her pregnancy with Tommy, Dr Nowacki already had one child, now 7. Since giving birth to Tommy, Dr Nowacki has had two more children, now ages 3 and 1.

None of the other children inherited Down syndrome.

A Blessing

Despite the immense physical and social challenges Dr Nowacki and her husband have faced with Tommy, Dr Nowacki said that giving birth to him was “the greatest blessing” she could ever have wanted.

“He is the warmest, funniest, and most engaging child you could possibly imagine,” Dr Nowacki said, her face lighting up as she spoke about her son.

Word of Dr Nowacki’s personal experience as a mother of a Down syndrome child has drawn a considerable number of such patients to her practice. “I understand first-hand the difficulties parents face before the child even exits the womb,” she said.

Doctors can now identify Down syndrome within eight to ten weeks of conception using chorionic villus sampling (CVS). The CVS procedure involves inserting a small catheter through the cervix and into the developing placenta. A small piece of placental tissue is extracted and analyzed. The procedure, which has been performed since 1982, causes very little discomfort.

Since the results can be known in the first trimester, the decision to abort can become a very real personal ethical issue. There are no hard statistics on how many fetuses with Down syndrome are aborted each year.

Dr Nowacki said that she has known several individuals who have at least contemplated this option.

“I absolutely respects the parents’ ultimate decision,” she said. “My job is to inform [parents] of the resources that are available, as well as what to expect with a child with this condition.”

Having a child with Down syndrome, Dr Nowacki continued, opened her to a “whole new side” of life. “My perspective has really changed on what is important to life, on what we value,” she said. “I feel very grateful that Tommy is here with us.”

Prenatal Identification

The most commonly used diagnostic test for Down  syndrome is amniocentesis, typically performed during the fourth month of pregnancy. A sample of the amino fluid surrounding the fetus is extracted for analysis. While it is almost 100 percent accurate in identifying the condition, amniocentesis carries a one in 100 chance of miscarriage.

Another option is an ultrasound-screening test called Nuchal Translucency, which can be performed 11 to 12 weeks since the woman’s last menstruation. A combination of measuring the Nuchal fold, identified by a black stripe on the screen, with the mothers’ age, determines the statistical possibility of having a child with Down  syndrome or other chromosomal abnormalities.

Counseling is strongly recommended for parents whose child is identified with having Down  syndrome.

Medical Information

“It’s only been over the last couple of years that the medical and education community has really been made aware of the myriad medical and social concerns associated with this condition,” said Dr Nowacki. “Access to resources, such as other parents with Down  syndrome children, therapists, and informed medical professionals, is very important. The parents need to have support. They need to realize that they are not alone.”

Parents should know, for example, that an estimated 50 percent of infants with Down syndrome develop congenital heart disease. There are also high numbers of Down syndrome children who develop thyroid malfunctions, particularly hypothyroidism, as well as vision disorders, often cataracts.

Individuals with the condition may also develop a propensity for ear infections, sleep disorders such as sleep apnea, and gastro-intestinal problems.

There are also specialized growth charts for children with conditions such as Down syndrome.

Dr Nowacki also said that approximately one in ten children with Down syndrome experience seizures.

With consideration to such varied and serious medical complications, Dr Nowacki said it is important for families with Down syndrome children to know that there are financial resources available through the state of Connecticut, such as mini-grants through the Connecticut Down Syndrome Congress.

In addition to medical concerns, many children with Down  syndrome have lower than average IQs. While the average IQ is 100, individuals with Down  syndrome generally have an IQ range of 25 to 50.

However, Dr Nowacki was quick to point out, physical appearance has nothing to do with how severely a person is affected by the condition.

Children with Down  syndrome often have speech development issues; they also tend to learn how to walk more slowly than their peers.

The Mainstream Movement

In 2002, the Connecticut Board of Education settled a case filed on February 20, 1991, by the families of five school-age children with intellectual disabilities. The families demanded that all of the state’s intellectually disabled school-age children be mainstreamed with nondisabled peers for the majority of the school day.

The settlement created, in part, a state mandate that students with intellectual disabilities be placed in regular classrooms for 80 percent or more of the school day with nondisabled peers.

Michael Regan, director of pupil personnel services for the Newtown schools, helped the district implement the required reverse mainstream model allowing intellectually challenged students to spend more than 80 percent of their time in regular classrooms.

“The label of intellectual disabilities includes children with Down  syndrome, as well as other conditions,” Dr Regan explained. “We don’t categorize it separately.”

The mainstreaming program begins in the district preschool, in which roughly 50 students, 25 special needs and 25 nonspecial needs, work and learn together.

“The preschool is an excellent program,” said Dr Nowacki, whose son Tommy is currently enrolled. In addition to broadening Tommy’s exposure to nonspecial needs peers, she said, the preschool staff was a “wonderful” source of support for families of children with special needs.

“While we don’t know what exactly causes Down  syndrome, we are learning more about the kinds of things those with condition go through, and what is needed for them to live a long and productive life,” said Dr Nowacki. “There is also a lot more available in terms of resources for families with children with Down  syndrome. I just can’t emphasize that enough!”

For more information on Down  syndrome, visit the Connecticut Down Syndrome Congress at www.ctdownsyndrome.org or the state department of special education at www.state.ct.us/sde/.

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