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Published on: March 13, 2012
by Denise Dador for ABC
Remembering family members who can’t remember themselves, Alexandra looks through pictures of several relatives struck with an aggressive form of Alzheimer’s disease.
The 35-year-old woman, who will be identified as Alexandra to protect her identity, lost her mother to familial Alzheimer’s. Her mother was diagnosed with the disease at age 42 and died in her early 50s.
“It’s sad, and the sadder part about it is she didn’t have a life that she should have deserved,” Alexandra said.
Like other relatives, Alexandra’s mother died from familial Alzheimer’s in her early 50s. Doctors say having the specific gene mutations predict with 100 percent certainty the carrier will develop the disease. While familial Alzheimer’s disease, or FAD, accounts for less than 2 percent of total cases, the disease process is similar to common forms.
UCLA neurologist Dr. John Ringman said he believes finding a treatment for FAD would lead to a treatment for all types of Alzheimer’s.
“This is a particularly powerful window because we can theoretically test medication on people who are going to develop the disease and know whether or not it’s working very well,” Ringman said.
To participate in Ringman’s study, researchers had to find out if Alexandra carries the genes. Participants were only told if they wanted to know. Alexandra did, and she discovered she was positive.
UCLA researchers took a close look at the spinal fluid of people with this genetic form of Alzheimer’s. They identified 56 specific proteins and when they compared these proteins to those of non-carriers, they found that it led to a chemical cascade going on in the brain, chemical changes that actually appeared at least 10 years before any symptoms.
“As soon as I found out, I got my tubes tied,” said the mother of two. “I think it would be selfish and unfair to have another kid.”
She feels the only way to help her children and herself is to participate in research. “I’m not saying this as a bad thing, but I don’t want to end up like my mom,” Alexandra said.
Ringman said researchers hope that being able to intervene early will allow doctors to prevent the disease. “These protein changes that we’ve identified might suggest some of the intermediate events occurring in that process,” Ringman said.
The focus now is to develop a therapy that would stop these changes from happening. “We’re hoping that by doing clinical trials of such prevention interventions in folks like this, we will identify treatments that will work and prevent the disease in people at risk for the more common and late onset form,” Ringman said.
So far, brain scans and cognitive tests show Alexandra has not had any decline. She’s doing all she can to keep her brain healthy, including taking current medications for Alzheimer’s. She knows that in a matter of 10 years she could forget her family, her friends and her life, but Alexandra remains hopeful and refuses to give up.
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