For People With Down Syndrome, Longer Life Has ComplicationsBy SALLY SARA
02 jun 2008--His Superman T-shirt was bold and bright, but his face was creased with confusion. Gerry Thomas was stumped by a question most men can answer in an instant.
“What’s your favorite beer?” asked his sister, Beth Thomas.
Mr. Thomas, 50, sitting in the house he and his sister share in Queens, squinted with intense concentration. He struggled to unravel the question, let alone remember the answer. Finally, he gave his sister an apologetic smile and shook his head. “I think I’m losing it,” he said.
Doctors had predicted that Mr. Thomas, born with
Down syndrome, would be lucky to reach his 10th birthday. His longevity has come at a price, though.
Two years ago, it was determined that Mr. Thomas, at 48, had early-onset
Alzheimer’s disease, adding new challenges of
dementia to his already significant disabilities.
In a cruel coincidence that scientists do not yet fully understand, research has shown that people with Down syndrome, a chromosomal abnormality, have a much higher incidence of Alzheimer’s disease at an early age. Some studies have said that 60 to 75 percent of people over age 60 with Down syndrome will have Alzheimer’s, though Dr. Ira Lott, who is in charge of the Down syndrome program at the School of Medicine at the University of California, Irvine, said those studies have been limited in scope.
So as advances in health care have extended the average life expectancy of people with Down syndrome to more than 50 years today from 25 in 1983, doctors and family members are now struggling to cope with a double dose of disability.
Dr. Philip Levy, president of the Manhattan-based YAI/National Institute for People with Disabilities, said Alzheimer’s theft of
memory and communication skills is particularly devastating for people with Down syndrome, who have a lower-than-average I.Q. but can make friends easily.
“Their social skills are one of the things that makes them feel very important; they get a lot of positive attention for that,” Dr. Levy noted. “So, when that is taken away, it is very, very cruel.”
Researchers at
Columbia University, the New York Institute for Basic Research in Developmental Disabilities and the Kennedy Krieger Institute in Baltimore are trying to untangle the connection between Down syndrome and the early onset of Alzheimer’s disease. They are studying how age, sex, mental ability,
cholesterol and
estrogen levels may relate to the propensity for Down syndrome patients to develop symptoms of Alzheimer’s, using data from 20 years of assessments of 500 people with Down syndrome on things like whether they can use a toothbrush or comb, dress themselves, do basic math, remember lists of common words or copy drawings of geometric patterns.
There is the hope, too, that the research could have broader implications. “Is there something there that we may actually learn about that may actually prevent Alzheimer’s disease in other people as well?” said Dr. Brian Chicoine, medical director of the Adult and Teen Down Syndrome Center at the Lutheran General Hospital in Chicago.
At the same time, community groups are scrambling to provide services for the expanding population of those with Down syndrome and Alzheimer’s. Chapters of the Alzheimer’s Association nationwide have expressed interest in replicating a program pioneered in Rochester in 2006 that has served about 60 people who have both Down syndrome and Alzheimer’s.
The Rochester program provides workshops on things like changing the lighting and layout of a room to make it more comfortable for people with Alzheimer’s, grief counseling for relatives, and training for caregivers in how to bathe and feed patients in a calm, predictable way.
“There’s growing interest among the Alzheimer’s Association to meet the needs of this unique population,” said Paula Casselman, resource center director of the Rochester Alzheimer’s group.
There is no program like the Rochester one near Queens Village, where Ms. Thomas, 56, and her brother live in a small, cluttered house where they grew up. In fact, she said that she had decided to share her brother’s story in part because she did not know anybody else caring for someone at home who has both Down syndrome and Alzheimer’s.
She had no idea her brother was at a higher risk for Alzheimer’s until the diagnosis was made. Since their mother died a year ago, Ms. Thomas, who used to work part time as a nurse, now looks after her brother full time. She said she managed to build up some savings before quitting; her brother also receives $620 a month from a Social Security program.
“I am the psychologist, the chauffeur, mother, father, sister, friend, whatever,” she said in an interview. “And he’s my heart.”
When her brother was born in the Bronx, Ms. Thomas recalled, his family was told he was a “Mongolian idiot” and should be put in an institution. Instead, his parents took him home to their apartment, where he was welcomed by his older sister.
“I put my arms around him on the bed and I said, ‘This baby is mine, and you guys can go back to the hospital and get yourselves another baby.’ ” Ms. Thomas recalled. “He brings great joy to my life.”
But two years ago, lapses in memory and concentration started disrupting Mr. Thomas’s daily routine. He would become tangled in his sweat pants as he tried to dress in the morning, unable to tell back from front and unsure whether he was taking them on or off. On the volleyball court, he would forget when it was his turn to serve or how to switch positions.
Ms. Thomas went to her computer to research Alzheimer’s and was surprised to discover its deep connection to Down syndrome. “I was apprehensive about what I could do to manage him at home, because Alzheimer’s to me was just an old person’s disease,” she said. “I didn’t know how fast it was going to take him.”
Now, before any family gathering, Ms. Thomas walks her brother through old photographs to remind him who is who. She guides him step by step through simple tasks, like putting milk into his coffee, that he used to handle himself.
Grabbing a cup of coffee one recent morning, he scrunched up his face, straining to remember what to do. He looked pleadingly into her eyes, seeking help. Then he made a cartoon-style laugh, poking fun at himself, to end the tension. But he seemed frustrated and embarrassed.
“It makes you frus-ter-a-ted,” Ms. Thomas said, overemphasizing each syllable. “It’s just the Alzheimer’s.”
Mr. Thomas disagreed. “I don’t have that,” he said emphatically.
He was reluctant to discuss the disease, looking down when it was mentioned. He said he only has “a smidge” of the disease.
The genetic link between Down syndrome and Alzheimer’s has been known for decades, but has garnered attention only recently as many more Down patients began living long enough to develop Alzheimer’s.
There are about 350,000 people with Down syndrome in the United States. They have an extra copy of the 21st chromosome, which carries genes for the production of a protein, beta-amyloid. Overproduction of that protein results in what are known as amyloid plaques in the brain, which can manifest as Alzheimer’s disease and alter memory and brain function.
By age 40, all people with Down syndrome have the amyloid plaques in their brains, though not all develop Alzheimer’s symptoms immediately. Some people with Down syndrome live into their 50s, 60s and even 70s without ever actually contracting the disease.
“I think the hardest part is you just don’t know if Alzheimer’s is going to affect your child or not,” said Betsy Goodwin, founder and a board member of the National Down Syndrome Society, who has a 30-year-old daughter with Down syndrome. “It’s very difficult to make any long-term plans.”
For relatives of people with Down syndrome, the joy of watching them live long beyond expectations is sometimes mitigated by sorrow at seeing them disintegrate. And often the parents who dedicated themselves to raising a disabled child have died or have become too frail to handle the needs of a disabled adult with dementia.
Maryann Slattery, who lost her 80-year-old mother to Alzheimer’s eight years ago, is now watching her 45-year-old sister, Michele Stabile, who has Down syndrome, deteriorate from the disease.
Before her Alzheimer’s diagnosis two years ago, Ms. Stabile used to watch wrestling on television and sort her collection of wrestling cards. Now she can no longer tell one card from another. One recent afternoon, she sat at the kitchen table of a group home for people with disabilities in Cobble Hill, Brooklyn, shuffling through a box littered with brittle, broken rubber bands that once held the cards in neat piles. She still likes to hold the cards; they still feel smooth on her fingers.
“You just see a little bit of her dying all the time,” Ms. Slattery said. “With Alzheimer’s, it’s not just the person who has it. It’s the family.”
Five years ago, celebrating her 40th birthday, Ms. Stabile had a boyfriend, Freddie Goldstein, who was also developmentally disabled. She would give him a kiss when he caught the bus on his way to
dialysis treatment several times a week. “Freddie was the love of her life,” Ms Slattery said. “She would be pretending to pick out engagement rings.”
But Ms. Stabile began to withdraw, no longer talking to people she met in the elevator or to her friends she saw in the day program she attended. And her behavior became unpredictable.
“She was laughing one minute and crying the next,” Ms. Slattery said. “It was like the pendulum swinging back and forth.” Now, the volatility has gone and Ms. Stabile is quiet and hauntingly calm, with the gait and slow, deliberate movements of a woman twice her age.
If Ms. Stabile is asked a question, she politely answers “yes,” even if she doesn’t fully understand it.
Her family is caught between gratitude and grief. Ms. Stabile has lived well beyond their expectations, but they want her future years to be good ones.
Ms. Slattery said that watching her sister struggle with Alzheimer’s is even harder than it had been living through her mother’s ordeal.
“My mom was in her late 70s, she was 80 years old,” she said. “It was difficult, but it’s more difficult with Michele because she was such a vibrant, outgoing person.”
Ms. Thomas is doing what she can to extend her brother’s ability to remember things and to act independently, and counts each day that she can joke and laugh with him as increasingly precious. She plans to take him on a cruise to the Caribbean.
Holding hands on the sofa in a living room decorated with certificates of Mr. Thomas’s sporting and community achievements, she teased him, “You’re getting to be an old, old man.”
“You can’t just hang out for the rest of your days. You have to get out and see how the rest of the world looks like,” she said. “There are a lot of things out there to see. I want him to see them all. If he remembers them, O.K.. If not, O.K.”
