Monday, November 19, 2012

Shepherd: Jack’s full and happy life

As a Board Member of the Down Syndrome Association of Central Texas and mother of a teenager with Down syndrome, I am often asked how medical science is progressing toward a cure. People are also curious about the latest early detection methods.
What these well-meaning people are essentially saying is, “since Down syndrome is a disease, we want to eliminate it, and that’s the most important goal, right?” The answer is “no, it’s more complicated than that.”
Down syndrome is a form of intellectual disability. It happens at the instant of conception, and there is no known medical technology – not even on the horizon – to prevent it. The only way to “prevent” Down syndrome is by testing fetuses for the condition and terminating those who carry it.
I realize that that might not sound so bad to some. One could argue that preventing the occurrence of Down syndrome reduces suffering in the world. When my son Jack was born, I cried in the hospital, and every day for the next six weeks. I thought that he would live a very limited and sad life, one of isolation and small potential. I thought that joy had left our family.
I was wrong. Jack, now a teenager, is a wise-cracking smart aleck who makes “your momma” jokes at the most inopportune times. He complains when we turn the radio away from his awful music and taunts my husband and I that he will be moving out the minute he turns 18. Raising him has been the most meaningful experience of my life.
Down syndrome today generally does not match outdated stereotypes of the disability. The average life expectancy is 55-60 years, the typical level of intellectual disability is moderate, and in scientific surveys, the great majority of people with Down syndrome say they are happy with their lives. Many hold jobs and have a wide range of interests and passions, from cheering on the Longhorns to singing karaoke.
This increase in community participation and quality of life would not have been possible without medical and educational research. The Down Syndrome Association of Central Texas supports and celebrate the advancements in technology that help people with Down syndrome with cognitive development, Alzheimer’s (which affects people with Down syndrome late in life), and other conditions common to those with an extra chromosome.
There are now six research centers across the U.S. working to develop these treatments. Global pharmaceutical company Roche launched the first-ever major clinical trial of one of these treatments in 2011, carrying with it the hopes of 400,000 Americans who have Down syndrome. These cognitive treatments, when they become reality, will not cure or prevent Down syndrome. But they will allow people with Down syndrome to make greater strides toward living independent lives.
Just last week, the National Institute of Health announced that it is establishing a patient registry, which will allow people with Down syndrome to enter facts about their health history into a database that will be accessible to researchers. The goal of the registry is to make it easier for people with Down syndrome to participate in clinical studies for new types of treatment.
Our association spends about 5 percent of our budget supporting such research. The other 95 percent goes to programs that focus on enriching the lives of people with Down syndrome by teaching them skills and providing social opportunities. My son Jack and others with Down syndrome face a community where their inclusion and acceptance are often more theory than reality, a community that still needs to be convinced of their intrinsic worth and their right to grow, learn, work, and live as full citizens.
The association is not alone in the way we choose to spend our resources — many charitable organizations have the same emphasis on inclusion and acceptance. United Cerebral Palsy focuses on better care and advocacy for people with disabilities, and Autism Speaks splits its focus between advocacy and research for causes and treatments.
Buddy Walk, our association’s main fundraising event, is minimally focused on “the cure.” It’s about bringing together our whole community to celebrate the part that people with Down syndrome play in it. At this year’s Buddy Walk, some of the participants with Down syndrome demonstrated martial arts skills, others were cheerleaders. They danced to live music, they pedaled in paddle boats across the pond, and they played carnival games. There was an abundance of joy.

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