Photo by Rodolfo Gonzalez
Paula Marks (right) and her sister, Lori Acosta, 38, exercise on the treadmills of the YMCA Communities Branch in Austin, Texas. Paula spends as much quality time as possible with Lori, who is diagnosed with early-onset Alz-heimer’s disease.
Photo by Rodolfo Gonzalez
Paula Marks (right) was the maid of honor for the wedding of her sister, Lori Acosta, in 2000. At left is their sister Pam Critendon. The image was taken before either of Paula’s sisters was diagnosed with early-onset Alzheimer’s disease.
Rare form of Alzheimer’s that strikes early marks family with tragedy
AUSTIN, Texas — Alzheimer’s disease has stalked Paula Acosta Marks of Austin, Texas, since birth, and now she knows: She will be the last member of her immediate family left to remember what it did to them.
Alzheimer’s first attacked her mother, whose death in 1982 was attributed to a form of mad cow disease. Paula was just 5. Now she is watching her two older sisters, ages 38 and 48, lose their memories to the same rare, inherited form of Alzheimer’s disease.
Paula, 36, doesn’t have the genetic mutation that is certain to cause Alzheimer’s. She is the main caregiver to her 38-year-old sister, Lori Acosta, and copes with the sadness of losing her, bit by bit, by living in the moment and celebrating their time together.
“Don’t waste a day,” she said. “Tell people you love them, every day.”
At a time when Americans are living longer, Alzheimer’s is considered an epidemic and one of medicine’s most daunting puzzles.
Experts predict a nearly threefold increase in diagnoses by 2050. Today, early-onset patients — those younger than 65 — represent 200,000 of the 5.2 million who have Alzheimer’s disease.
The very early-onset Alzheimer’s in Paula’s family shows the disease at its cruelest. It steals the lives of adults in their prime — their 30s and 40s. It devastates caregivers.
But it is also a focus of researchers who hope to answer a burning question: If a person destined to get Alzheimer’s receives a drug therapy before symptoms emerge, can the disease be prevented in all kinds of patients or at least forestalled?
“If one could intervene earlier, you would be able to exert a much stronger effect at delaying the disease,” said Dr. Clifford Jack Jr., a professor of radiology at the Mayo Clinic, in a written statement.
Paula has enrolled in a study of early-onset Alzheimer’s being conducted by the Easton Center for Alzheimer’s Disease Research at the University of California, Los Angeles. Researchers want to learn how Alzheimer’s disease works, and families affected by one of three gene mutations, like Paula’s, can provide important clues.
“In most ways, it’s the same disease” regardless of onset, said Dr. John Ringman, a clinical professor of neurology involved in the study. That’s why the study, which continues to enroll patients, is so important, he said.
Previous trials that focused on people who already have symptoms failed because the intervention came too late. But with new tools, including brain scans, researchers are hoping to prevent the disease before symptoms appear.
Treatment isn’t part of the study Paula is involved in, Ringman said, but he and the other researchers in the Dominantly Inherited Alzheimer Network, or DIAN study, hope it will inform future therapies.
Paula, a newly graduated registered nurse, has the same hope. She also hopes her family’s story will raise awareness about the study and about early-onset Alz-heimer’s.
“You can get real angry about this, but if you give back, you get a little control,” she said.
Paula doesn’t question why her family has been so deeply affected by Alzheimer’s disease. “It’s the roll of the genetic dice,” she said, sitting on a couch in the small South Austin duplex she shares with husband, Barton Marks, 42, and their 2½-year-old daughter, Joslyn.
Children of a parent with early-onset Alzheimer’s have a 50-50 chance of inheriting the disease. Paula’s 20-year-old niece, Taylor Critendon, isn’t sure she wants to be tested. Her mother, Pam Critendon, can no longer talk and doesn’t always know who Taylor is. Getting tested “is something I think about every day,” Taylor said, “but I’m not ready right now.”
As Lori’s main caregiver, Paula never has enough time for her husband, daughter and sisters, not to mention herself. She makes countless calls seeking help for Lori; Medicare will pay for drugs and doctor visits starting this month. And she makes sure she visits Lori every day or has someone else lined up to come.
At times, she struggles with survivor’s guilt. At other times, Paula feels blessed, she said, hugging Joslyn. “There’s been a lot of tragedy in my life, but I’m so lucky to have a great husband, a great daughter and all of these wonderful things.”
In the past four years, she has pieced together her family’s unusual genetic destiny. Her mother’s death is no longer mysterious. Barbara Acosta started showing signs of memory loss at age 38, before Paula was born, she said. Two or three years later, the mother of three girls and an adopted son was moved to a nursing home.
Paula has no memory of her mother’s presence, only a gnawing sense of absence.
Her mother’s death certificate says she died from a rare and fatal brain disorder, Creutzfeldt-Jakob encephalitis, Paula said.
Her father, Pete Acosta, coped with the loss by drinking.
Two-and-a-half years after her mother died, Pete Acosta was dead from a heart attack at age 52. Pam, then 20, became the sole parent to Paula, then 8, Lori, 10, and David, 16.
With Social Security benefits and a trust their father had set up, they were able to stay in the family home. Pam married her high school sweetheart, Kevin Criten-don, and he became a father to the three younger children.
At 17, Paula moved into an apartment with a friend. She attended the University of Texas, as well as Austin Community College, on and off for six years. When she was 19, her brother, who had been depressed, killed himself.
“Death is one thing, but it (kept) happening to these young people,” she said. “I didn’t know anyone who grew old and died.”
Five years ago, Paula and Barton were planning their wedding when Barton noticed something was wrong with Pam, then a schoolteacher. “She’s telling a story and, every sentence, there was a word she couldn’t remember,” he said.
In February 2011, Pam had a genetic test confirming that she had the rare, familial form of the disease. And then Paula noticed her other sister, Lori, was acting strangely.
“Nobody wanted to believe she was sick,” Paula said. “She was only 36.” Lori made excuses for her problems but later confessed: She didn’t want to know.
Lori finally went to Dr. Ronald DeVere, an Austin neurologist, in June 2012. She was the youngest patient he had ever seen with Alzheimer’s, he said.
Paula also got tested in January 2012 as part of the DIAN study in which she is enrolled. When she heard she didn’t have the gene, “I immediately started crying,” she said. The news also meant Joslyn wouldn’t inherit the disease.
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