Shepherd: Jack’s full and happy life

By Suzanne Shepherd from Statesman.com:

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Down syndrome today generally does not match outdated stereotypes of the disability.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.

living to 72

from TampaBay.com:

In every non-biological way, Jackie Pepin was a little girl.

She dressed her baby dolls each morning at a group home for people with developmental disabilities.

She adored cheap watches and was proud of her ability to tell time.

She enjoyed coloring books and walking a cockapoo she had named Happy.

Chronologically, however, Ms. Pepin stood out for her advanced age, having lived a dozen years past the average life expectancy for people with Down syndrome.

Ms. Pepin died Saturday at Brandon Regional Hospital, a possible result of blood clotting and other circulatory problems, her family said.

She was 72.

"She was a 5-year-old child in the body of a 72-year-old lady," said her sister, Joan Krowitz.

Without trying, Ms. Pepin spread her satisfaction in simple pleasures to those around her.

Waitresses delivered her regular breakfast without having to take the order: two eggs and sausage, two cups of coffee and white toast. Strangers at the dollar store wanted to buy trinkets for the bright-eyed woman who stood 4 feet 8.

Ms. Pepin was one of more than 400,000 people in the United States born with an extra copy of chromosome 21, resulting in Down syndrome.

As recently as 1983, life expectancy for those with Down syndrome stood at 25, but advances since in surgery and medications have boosted that estimate to 60, according to the National Down Syndrome Society. The oldest living person with the syndrome, Guinness World Records reported in 2009, is Bert Holbrook of Waseca, Minn., who is now in his early 80s.

A stimulating home environment, good health care and family support contribute to longer lives. Ms. Pepin had all of those things, as well something many adults lack: an ability to meet nearly all of her needs.

Among them were the extra napkins she always requested at restaurants, The Catholic Channel, Jeopardy and Wheel of Fortune, even though she could not read.

She enjoyed dancing, especially to her favorite song, Fat Bottomed Girls, by Queen.

Ms. Pepin grew up in Trumbull, Conn., during an era of little hope for Down syndrome children.

"When she was born, the doctor said, 'Institutionalize her — or don't worry about it, because she'll be dead by the time she's 15,' " said Richard Lilliston, the chief executive of Hillsborough Achievement and Resource Centers, which runs the home where Ms. Pepin lived on weekdays.

She interacted with other developmentally disabled people in Connecticut and South Carolina before moving with her mother to the Tampa Bay area in 2000.

She worked at a day program and earned a few dollars a week until her arthritis advanced. The group home gave her a domestic structure. She dressed her baby dolls each day and changed them into pajamas at night and put them to bed.

"It was her motherly instinct," said Krowitz, 76.

She had a friendship with a resident named Tommy. They called each other boyfriend and girlfriend.

She had a disarming way of admitting mistakes.

"I'd ask her, 'Why did you do that?' " her sister said. "She would say, 'I don't know, Joanie. I lost my head.' "

At the hospital, someone asked Tommy why he was crying, Krowitz said.

"He said, 'Because I miss Jackie so much.' "

So do many others, including family members who are traveling to Connecticut from several other states to her funeral.

"Although she was handicapped, she gave us so much more than most people give in their lifetimes," Krowitz said.