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Facing Alzheimer's 

Adults with Down Syndrome get it earlier and more often, and a caring community must recognize their special needs

Before she developed Alzheimer's disease, my older sister Kim regularly wrote me letters like this one:

Kathy

I love you. You are my wonderful sweet sister. You are my special sweet Kathy. Annie love to play with Katie. Tell Smokey you are my sweet kitty. You are my special kitty. Tell Teddy you are my sweet boy. You are my special wonderful boy.

Kim Carpenter

Kim, who has Down Syndrome, a genetic developmental disability caused by the presence of three rather than two copies of one chromosome in her genetic makeup, had always been the overachiever in our family. Active, fit, community minded, good-natured, disciplined and responsible, she far exceeded the low expectations placed on her by society.

When she was a child in the early 1960s, public schools were not mandated to provide an education for people like her, but she learned to read and write anyway. When she finally entered a public school special education program in 1966, she excelled and quickly became the teacher's "helper." As a young adult, she was employed by the Memphis school system as a teacher's aid in a special education classroom.

Until her Alzheimer's became advanced, Kim worked in Galveston, Texas, in a greenhouse, potting and watering plants. Her employers had only one problem with her -- they couldn't get her to stop working when it was time to clock out.

In 1996, Kim's personality began to change. Her short-term memory became vague and erratic. Her sleep patterns changed. She grew lethargic. She was 43 years old. In November of that year, my mother brought her to Colorado Springs where she was diagnosed with Alzheimer's by local neurologist Dr. Randall Bjork. At that time, she wrote me this letter:

Kathy
Specil best sisters
You are best sisters. You are nice sweet sisters. You are best sisters. You are
Nancy love you. Enjoys best sisters enjoys Merry Christmas. Mother enjoys see Kathy.
Nice special sisters.
Kim

In the past five years, Kim has experienced many of the symptoms of Alzheimer's seen in the general population -- compulsive behavior, repetitive speech patterns, "sundowner syndrome" or irritation in the early evening hours, wandering, confusion. Last summer, she wrote me this letter:

Kathy right
I love you
Best sister

No longer able to work, Kim now attends an Alzheimer's day care facility in Galveston called Libbie's Place. She is the first client there with Down Syndrome and the program coordinators have only one problem with her -- she likes the program so well she sometimes doesn't want to leave.

Adults with Down Syndrome are living longer now than in years past, due to better early medical intervention for heart problems and improved medications for respiratory problems, and in recent years it has come to light that they have a significantly higher risk of developing early Alzheimer's than most "normal" adults. Their subsequent decline often takes a harsh toll on their parents, who may have had their Down's child in their late 30s or early 40s (the risk of a DS birth increases with the mother's age) and are now taking care of their failing kids in their own declining years.

My mother considers herself lucky to have given birth to Kim at a relatively young age. At 74, she cares for Kim at home. Like many parents of middle-aged people with Down Syndrome, she was surprised at the Alzheimer's diagnosis, but relieved to know the cause of Kim's decline. She worries about what will happen to Kim in the event of her death and spends a good deal of time trying to plan for the future.


Inescapable epidemic

Our family didn't know in 1996 that Kim would become the one in four with Down Syndrome who develop Alzheimer's disease by age 50. In the general population, only a minute percentage develop the disease before their mid-60s and only 3 percent of 65- to 74-year-olds develop Alzheimer's. (The occurrence of Alzheimer's jumps to 19 percent of 75- to 84-year-olds and up to 50 percent of those who live to age 85 and older.)

With the baby-boomer generation approaching 60, national attention has been riveted on the disease with particular focus on research and prevention. After all, a recent article in the magazine My Generation points out, Alzheimer's is costly. "As our longevity increases and the 'senior boom' gets closer," author David Shenk concludes, "an Alzheimer's epidemic seems inescapable. The number of victims -- and caregivers -- will quadruple over the next 50 years. So will costs, draining the assets of millions of families and also of Medicare and other government health services." The need for Alzheimer's day care, respite care, medical care and nursing home care is now widely recognized and millions of research dollars are dedicated each year to finding a way to delay the onset of the disease if not cure it altogether.

But as public attention has been focused on the needs of a largely elderly, formerly "normal" population of patients, the problems of the population of adults who have both Down Syndrome and Alzheimer's disease have been largely ignored.

That is changing. My sister's generation, the first generation of people with Down Syndrome who, due to better early medical care, are now living into and beyond the middle-age years, provide a unique challenge to the medical, educational and social services communities.

And they comprise an Alzheimer's research control group that cannot be ignored.


Plaques, tangles and neurons

As humans age, their brains lose nerve cells. This is the basic cause of dementia. The most common form of dementia, usually occurring in people aged 75 to 85 or older, is Alzheimer's disease, named after Alois Alzheimer, a scientist who, in 1906, first described the characteristic brain changes associated with the disorder.

These brain characteristics are referred to as plaques and neurofibrillary tangles. As these plaques and tangles form in the brain, neurons, or nerve cells, it is hypothesized, are squeezed out. Alzheimer's is characterized by the loss of millions of neurons and widespread appearance of plaques and neurofibrillary tangles.

In the Down Syndrome population, scientists have long known that these plaques are evident in the brains of most everyone and have even been seen in the brains of children as young as 12. But while nearly 100 percent of the Down's population, by middle age, have plaque in the brain, not all develop symptoms of Alzheimer's.

That, and their genetic makeup, make them an intriguing research population for scientists concerned with how and why Alzheimer's disease develops. Simply put, we are all carriers of two sets of genes -- one from our mother and one from our father -- carried on chromosomes, pairs of rod-shaped bodies in the cell nucleus. People with Down Syndrome have a third chromosome appearing on the 21st pair. (The condition is also referred to as trisomy 21.)

"The first gene shown to cause familial Alzheimer's was located on Chromosome 21," explained Dr. David Patterson, president of the Eleanor Roosevelt Institute of Denver where that discovery was made.

Now that researchers have identified the gene that causes Alzheimer's, or rather the gene that produces protein that causes plaque in the brain, the genetic predisposition of people with Down Syndrome to develop Alzheimer's disease has become a subject of intense interest.

Patterson cites a host of important studies that may provide insight into the causes of Alzheimer's disease and affirms the significance of the Down Syndrome population in those studies.

"Researchers are beginning to understand how plaque is formed in the brain and have even identified medications that would prevent it from growing," he said. "But they do not know if the plaques are what cause the problems of dementia related to Alzheimer's or if they are merely [genetic] markers." (A genetic marker is a dominant gene or trait that identifies traits or genes linked with it. In other words, plaques in the brain of people with Down Syndrome could conceivably be markers unique to their genetic makeup.)

"The Down Syndrome community and their contribution to Alzheimer's research is significant for two reasons," he said. "Twenty-five percent [of them] will develop Alzheimer's by their mid-50s and that is a significantly higher occurrence than with the typical population. They have a well-defined chromosomal genetic makeup that leads to the disease.

"But it is important to note that Alzheimer's affects everyone the same way. There are currently 3 million diagnosed cases of Alzheimer's in the United States. It is a significant public health problem. If breakthroughs can be made through genetic research on the Down Syndrome population, everyone will benefit."

But Patterson and his fellow researchers don't see the Down Syndrome population as mere laboratory subjects. Their research, he says, can eventually help people with Down Syndrome who have developed Alzheimer's or who are likely to develop Alzheimer's to have a better quality of life.

"We are beginning to see positive effects with simple treatments like high doses of Vitamin E," said Patterson. "Researchers think that this is because Vitamin E is an antioxidant, and one of the components of Alzheimer's is the presence of oxygen radicals in the brain. If this is true, there are probably some more effective antioxidants that haven't yet been tried."

The big picture

In November 2001, the Denver Adult Down Syndrome Clinic, sponsored by the Mile High Down Syndrome Association, was designated as one of 20 test sites around the world to run a double-blind study on the effects of Vitamin E on Alzheimer's disease. The study is being coordinated by researcher Dr. Arthur J. Dalton of the New York State Institute for Basic Research in Developmental Disabilities.

Alzheimer's disease, says Dalton, "represents the most significant health risk faced by aging individuals with Down Syndrome who live beyond the age of 40 years." Dr. Steffi Gratigny, a family practitioner who runs the clinic, concurs but offers caution.

Trained at Lutheran General Hospital in Illinois, where the largest clinic of adults with Down Syndrome in the United States is located, Gratigny has focused on the DS population since 1995. And while the Vitamin E study at the Denver clinic focuses on people over 50 who have both Down Syndrome and Alzheimer's, Gratigny emphasizes the ongoing controversy over the diagnosis of Alzheimer's in people with Down Syndrome and cautions against over-estimating.

"By 1996, 1997, there was a lot of talk about Alzheimer's in the Down Syndrome population that suggested everyone gets it," said Gratigny. "But there are a lot of people, including myself, who think the statistics suggesting that Alzheimer's appears in everyone with DS are incorrect."

More reasonable is a recent study published in the Family Practice Journal by Dr. Brian Chicoyne who found that, of 800 adults with Down Syndrome, about 40 percent eventually developed Alzheimer's, a number "closer to the general population than most were saying," said Gratigny. By age 60 to 69, an unusually old age for someone with Down Syndrome since the average life expectancy today is about 56, expectation of Alzheimer's has risen to as high as 75 percent.

Gratigny poses a view of the Down Syndrome population and their needs this way: A 40-year-old person with Down Syndrome is physiologically more like a 55-year-old person in the general population. Because of their genetic makeup, they age more rapidly once they reach that age; thus the appearance of Alzheimer's in a higher percentage of DS people aged 40 and over makes sense.

Diagnosis is difficult, says Gratigny, since the criteria are largely subjective. A healthy adult with Down Syndrome is unlikely to be able to count backward from 100, one of the cognitive measures in the Mini-Mental State Examination, often used to diagnose Alzheimer's. Diagnostic tools like MRIs are helpful but don't tell the whole story.

Gratigny's clinic focuses on the mental, emotional and physical needs of the entire family, recognizing the problems associated with aging for everyone involved whether or not the patient has Alzheimer's. Decline of mental function in adults with Down Syndrome, Gratigny points out, can also be associated with thyroid abnormality, stroke, vitamin deficiency, depression, or just the natural effects of aging.

Outside the home

But both she and social worker Anne Meier, who also works with families at the clinic, are sensitive to the needs of aging adults with Down Syndrome and the largely unrecognized problem of early Alzheimer's in those people.

"I had a patient in Illinois with Down Syndrome and Alzheimer's," said Gratigny, "and we had tremendous difficulty getting a nursing home to accept him for placement. Basically, they would accept a diagnosis of Alzheimer's but not Down Syndrome."

Meier, who focuses on the psycho-social needs of the entire family when a Down Syndrome patient comes to the clinic for evaluation, points out the difficulties faced by elderly parents confronted with the mental and physical decline of their middle-aged children.

"There's a real concern among families that we have done this for the past 30 or whatever number of years, we know him very well, know his needs, his special characteristics, and we can't imagine that someone else would be able to care for our loved one, cherish him, love him in the same way that we do," said Meier, pointing out that many of these caregivers have reached the ends of their own lives and are physically frail and failing but want to continue caring for their child.

"There's fear that the quality of life outside the home would be distinctly different and not necessarily as good. There are always concerns, if someone is placing a family member outside of the home for the first time -- will he be hurt? Unfortunately, abuse is an issue. Then there's the gray patch, maybe [the care] just won't be good quality.

"Secondly," said Meier of elderly parent caregivers, "people don't necessarily voice this so much in the one hour I have with them, but I sense it's a problem for many: If your primary role in life for 45 years has been to take care of someone with Down Syndrome, losing this role that has defined you for the majority of your life presents a huge identity crisis. It comes on the heels of your own physical failing. Not only do I have to face my own mortality, but I have to let go of this person who has been central to my identity."

Gratigny and Meier agree that attention must be paid to the needs of this population and the vulnerability of their caregivers.

"I'm not sure that I have very good advice for people," said Meier. "We aren't able to offer much ongoing support because of limited funding and we are only available two days a month. Dr. Gratigny, for instance, who is the doctor who often gives the diagnosis, is not available to be the primary care provider.

"I try to help folks acknowledge where they are in the process, and then to identify the next steps, to help them figure out what that would be. I tell them, 'Speak with your case manager, talk with your attorney, or talk with parent advocates about specific referrals to good, sensitive doctors.' "


Theresa and Shirley

Shirley Crennen's Englewood ranch house is painted a jaunty shade of green, the color of pistachio ice cream. It matches well the cheery disposition of this 76-year-old mother of six, including Theresa, 37, who has Down Syndrome and Alzheimer's disease.

Theresa was born in 1964, the year Shirley turned 39. The day we meet, Theresa is dressed neatly in a Western-style appliqued vest. Her auburn hair is carefully curled and styled. Around her neck she wears a filigreed gold locket/watch. She appears shy. She yawns a lot. Her eyes are downcast. She moves slowly and with great effort. From time to time, she smiles.

Shirley, who smiles constantly and gently touches Theresa as she speaks, says it has been a long and difficult road the past two years, since Theresa was diagnosed with Alzheimer's. Like many people with the disease, Theresa sometimes becomes agitated and violent, and it's very difficult to predict when or why.

"You get tired," said Shirley. "The big trick is to try to relax, to take it easy, to not try to correct or change her. But it's hard when she gets so agitated, so violent."

Theresa gets upset when confronted with change or big crowds. At Christmas, when there were 25 family members present in the house, she had an outburst directed at one of her siblings. Shirley says that afterward she was despondent and expressed how badly she felt about what she had done. Agitation, swearing and violent acting out were not behaviors Shirley and her family had seen in Theresa prior to a few years back, and were some of the reasons they sought psychiatric help for her when she began displaying those tendencies.

"She just wasn't with us the way she had been before," said Shirley. "When her doctor mentioned that it might be Alzheimer's, she predicted a five-year life span. At first, Prozac helped her tremendously, but the woman [caregiver] she was living with at the time was adamantly opposed to antidepressants."

Diagnosis was difficult with Theresa, who had already suffered the physical setback of breast cancer while in her 20s and who was relatively low-functioning to begin with. And doctors didn't agree on the cause of her behavioral changes.

"She was always slow, but then she got really, really slow," said Shirley. "It took her 10 to 15 minutes to walk down a short hallway. She couldn't get on an elevator in the time that the door was open."

"I was just torn apart. One psychologist was saying it was all behavioral, but the psychiatrist was saying it was physical, it was Alzheimer's. We went through a whole battery of MRIs and EEGs before anyone could agree."

Theresa currently lives in a nearby town house with the mother-in-law of one of Shirley's other children, a 65-year-old woman who moved to Denver to be closer to her grandchildren. She has done a wonderful job caring for Theresa, says Shirley, but she "is beginning to get stressed out over the job." Theresa comes home every other weekend. Her sister has been named her legal guardian should anything happen to their parents.

Although the family is financially stable and Theresa is well-loved by her brothers and sister and by her parents, caring for her is a constant struggle for the Crennens.

"The retardation community has to begin thinking about how to care for these people," said Shirley. "I know it's sounds terrible, but I just pray that Teresa dies before I do. It's a terrible thing to keep thinking about what will happen to her if I'm not here."

The sun dances over Shirley's spacious, immaculate living room as we talk. Shirley recommends a good book for caregivers, The Best Friend's Approach to Alzheimer's Care. As we talk about Kim and Theresa, the similarities and differences in their personalities and the progress of Alzheimer's, Theresa slowly shuffles across the room. By the time I stand up from the couch, she has quietly disappeared into another part of the house.

Shirley graciously walks me to the door, urging me to come back to visit. "It helps to talk about these things," she says, and we hug before I drive off. As I pull away from the green house, I know that she has gone directly to Theresa, to see where she is, to see what she needs, to make sure she is cared for.


Resources

For help with financial and estate planning or Medicare and Medicaid advice, call Developmental Disabilities Resource Center, Denver, or visit them at www.ddrcco.com.

For information on Alzheimer's and support for families dealing with the disease, call Alzheimer's Association, Rocky Mountain Chapter, 800/864-4404, or visit www.alzrockymtn.org.

For information on local support for adults with Down Syndrome, call Down Syndrome Association of Colorado Springs, 633-1133, or visit www.csdsa.org.

For a comprehensive medical and psychosocial evaluation, call the Denver Adult Down Syndrome Clinic, 303/232-3947.

For information on the monthly Aging Issues Support Group, call the Mile High Down Syndrome Association, Inc., 303/797-1699 or visit www.mhdsa.org.

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