Life with Down syndrome
posted by: Guest Blogger
The memory from eight years ago is almost as vivid as if it had occurred only seconds ago.
My wife was in the recovery room at Penrose Community Hospital in Colorado Springs, having delivered our first child, a daughter who came early and under emergency conditions.
Behind drawn curtains in the crowded recovery room, we watched a video I had just shot of our baby in the neonatal intensive care unit when the doctor who performed the delivery nervously approached.
Standing just outside the curtain, the doctor changed our lives.
“We believe your baby has Down syndrome,” she said.
“I’m so sorry.”
The perfect baby we were expecting now was gone. We didn’t know much about Down syndrome but soon realized the world was looking at us and our baby differently.
Instead of congratulations, we were told, “I’m so sorry.” In place of flowers and balloons, the hospital sent a chaplain. We were given outdated material about the genetic condition and didn’t know what to expect next.
Eight years later, Abigail Anna Meyer is a beautiful and lively second-grader who is popular, funny and fully included in her classroom. She is sometimes confounding, sometimes difficult, but show me an 8-year-old who is not. She is not the same as her peers or her younger sisters. She has medical issues, and learns and speaks differently. But she is just as her name means in Hebrew: her father’s joy.
My wife and I chose not to do prenatal testing. The invasive amniocentesis test involves sticking a long needle into the womb to remove a small amount of fluid to screen for a variety of birth defects. The test also carries a risk of miscarriage.
Today, a new test has been introduced that advocates believe marks a turning point for Down syndrome. Two months ago, the California-based company Sequenom introduced the first-ever noninvasive blood screen for Down syndrome in 20 cities, including Denver’s Presbyterian/St. Luke’s Medical Center. The company says the screen can be administered 10 weeks into pregnancy, is 99 percent accurate and costs $235 (with insurance).
Down syndrome, which has been a part of the human condition as long as babies have been born, is now at a crossroads.
Some believe the test will lead to a drastic reduction in the number of babies born with the genetic condition. This is happening at the same time as researchers believe drug therapies to treat some of the cognitive delays associated with Down syndrome are within their grasp.
Advocates worry fewer babies born with Down syndrome could mean less support for those living with the condition. Ultimately, that could mean less funding for research trying to help those who are here.
“I do feel like I am in a race against time,” said Michelle Whitten, executive director of the Global Down Syndrome Foundation, one of the leading fund-raisers for Down syndrome research.
Whitten — who is a friend and whose 8-year-old daughter has Down syndrome — worked with her parents, Anna and John J. Sie, to create the nation’s first medical and research institute for Down syndrome at the University of Colorado.
“Can organizations work fast enough to get the National Institute of Health funding to counterbalance what may happen as a result of this test?” she asked.
Studies estimate 92 percent of women who get a prenatal diagnosis of Down syndrome terminate their pregnancies. The new test is easier, can be done earlier and carries no risk of miscarriage. Now, only 2 percent of women test for Down syndrome with invasive tests. That percentage will surely rise.
Alberto Costa, an associate professor at the University of Colorado Denver School of Medicine, has been working for more than a decade on finding ways to improve cognition in people with Down syndrome. He also has a teenage daughter with the condition.
As Sequenom was introducing its test, Costa was finishing a clinical trial to determine whether a drug called memantine can help improve memory and cognition of young adults with Down syndrome. The results will be published early next year.
“The parent in me definitely feels sad,” he said about the new test that likely will lead to more abortions. “It shows the real value that society places on your child. All of a sudden she is not a person. She is a burden that we need to get rid of. But where does it stop? When you find out it’s a girl, or has blue eyes? There is a slippery slope. At some point things go out of control.”
Marcy Graham, senior director of investor relations at Sequenom, said their test is about providing information.
“This is the first widespread distribution of a DNA sequencing test. That does tend to make people nervous because they are not certain what it means,” Graham said. “It’s not intended to weed out a certain type of person. There are screening methodologies for a large number of diseases that are put in place to educate the parent. Ours is just a more safe method.”
Looking for information
Days after my daughter was born, my wife and I searched for accurate information about what our life would hold with a child with Down syndrome. One friend, trying to help, sent us a 1970s book about mongolism. I threw it away.
Our pediatrician scheduled a meeting with a mother and her adopted 3-year-old son who had Down syndrome. In the doctor’s office, I watched the child carefully, and immediately saw he wasn’t anything to fear. He was a little boy who wanted to play, climb on his mother’s lap and crawl into the cabinet below the sink like any toddler.
The world for people with Down syndrome has changed. In the past, children would be institutionalized. Now, they are raised with their families and go to school with their siblings. In 1983, the life expectancy for a person with Down syndrome was 25. Now it is 60. Today, people with Down syndrome go to college, act in shows like “Glee” and get married.
Such a powerful new tool to identify Down syndrome safely and so early in the pregnancy should be partnered with accurate and timely information for parents.
Down syndrome now is mostly a postnatal diagnosis. But it quickly will become a prenatal diagnosis.
“A collision is about to occur between the advent of new technology and absence of information,” said Brian Skotko, physician in the Down syndrome program at Children’s Hospital in Boston.
To fill the void, national Down syndrome groups and physicians have put together a booklet of information about the condition (find it at www.lettercase.org). And Whitten’s organization is working with Sequenom to provide accurate information at the time of diagnosis.
Mile High Down Syndrome Association is among several that have set up first-call support networks, where parents given a diagnosis can call a parent who already has a child with Down syndrome to find out what it’s like.
In October, the month that Sequenom introduced its test, Abigail was a model in a celebrity-studded fashion show in Denver that raises money for Whitten’s organization.
She joined other people with Down syndrome in the packed downtown auditorium, waving to the cheering crowd as she walked down the runway.
There was our baby — father’s joy. But I could barely see her through the tears in my eyes.
Down syndrome by the numbers
Last month, results were released from a six-year study of 2,044 families with children who have Down syndrome.
99% of parents said they love their child with Down syndrome
79% of parents said their outlook on life was more positive
94% of brothers and sisters said they are proud of their sibling with Down syndrome
99% of 284 people with Down syndrome said they were happy with their lives
97% of 284 people with Down syndrome said they liked who they were
Sources: 2011 Children’s Hospital Boston surveys