A Family’s Ongoing Fight With Early-Onset Alzheimer’s

George Hoffmann didn’t think anything was wrong when his wife began losing her house keys, or occasionally misplaced her pocketbook.

Elisa Hoffmann before diagnosis.

He explained that Elisa, whom he met when working at the same summer camp for disabled children and adults on Long Island in the 1980s, had a demanding schedule. The mother of two was a teacher of developmentally disabled and special education students at Jay M. Robinson High School in Concord, and was often pulled in multiple directions at once.

So, it wasn’t until he received a call from his wife’s coworkers in July 2012 that the seriousness of his wife’s simple mishaps began to hit home.

“One of her colleagues called me and said I need to come up to the school right away, that there’s something wrong with her,” Mr. Hoffmann recalled recently, explaining that he later learned that Elisa was working on summer break because she had fallen behind on her paperwork.

“She always did her caseloads on her computer, and she wasn’t doing them,” the Harrisburg resident continued. “She was just staring at the screen. That’s when I found out she was way behind with her workload.”

Diagnosed At 42

Mr. Hoffmann immediately took his wife to the doctor and scheduled an appointment with a neurologist. After several rounds of testing, including brain scans and memory tests, Ms. Hoffmann was diagnosed with early-onset Alzheimer’s disease, an uncommon form of dementia found in those younger than age 65.

Those suffering from the disease, which slowly destroys nerve connections in the brain, typically complain of being confused or disorientated, before losing their memory and, in more advanced cases, their ability to feed themselves, communicate or even walk.

Ms. Hoffmann was officially diagnosed on October 4, 2012 – when she was only 42 – though doctors think she had been living with early-onset Alzheimer’s for almost a year by then.

George, Amanda, Elisa and Brian Hoffmann.

“I kept asking her what’s going on, what’s wrong, and she’d say nothing was wrong, or that she was just tired,” Mr. Hoffmann said. “She really couldn’t explain what was going on, what was going on inside her brain.”

Her doctors believe that Ms. Hoffmann’s love of reading, background in education and active schedule, all which kept her brain engaged and disguised the disease’s earliest symptoms, have allowed her to fight off the disease for the past eight years. However, an unexplained blood clot found in her brain earlier this year has robbed her mobility and ability to talk to her husband and their two adult children, Amanda and Brian.

Ms. Hoffmann, now 50, is in an advanced state of Alzheimer’s, and her doctors don’t know how much longer she can continue to fight the disease, according to her husband. On average, Alzheimer’s patients live four to eight years after diagnosis, but can live as long as 20 years if they are otherwise healthy, according to the Alzheimer’s Association.

A Family History

As devastating the diagnosis, it did not come as a complete surprise to the Hoffmanns.

Ms. Hoffmann’s father, Nick Nostro, lived with early-onset Alzheimer’s for more than a decade before passing away in his late 50s. His brother suffered from Lewy body dementia, the second most common type of progressive dementia after Alzheimer’s disease dementia, as per the Mayo Clinic, before dying in his 50s.

George and Elisa Hoffmann.

Additionally, two of her cousins, both women, were diagnosed in their 40s; one died in her late 40s, while the other living in New Jersey was only diagnosed about two years ago.

“Elisa was aware of the family history—she knew about it,”  said Mr. Hoffmann, who owns Dri Touch Carpet Cleaning in Harrisburg. “They all have this gene … and she inherited it from her father.”

Researchers have determined that early-onset Alzheimer’s is “very strongly linked” to three specific genes – Amyloid precursor protein (APP), Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) – and that their mutation can trigger the disease, the Mayo Clinic reports.

That’s because the gene mutations cause the excessive production of a toxic protein fragment called amyloid-beta peptide that can build up in the brain and form clumps called amyloid plaques. The clumps cause tau proteins to malfunction and stick together, forming neurofibrillary tangles that are linked with abnormal brain functions commonly found in Alzheimer’s patients.

The protein and plaque buildups can kill nerve cells in the brain, causing it to shrink over time, and trigger what are now considered common symptoms of Alzheimer’s sufferers: impaired memory and confusion.

Individuals who inherit one of these mutated genes from a parent will most likely develop Alzheimer’s symptoms before they turn 65, according to the Mayo Clinic. However, research also shows that some early-onset forms of the disease – for which there is no known cure – have been linked to other genetic mutations and other still-unidentified factors.

George’s and Elisa’s Hope

Fewer than 5 percent of the estimated 5.8 million Americans now suffering from Alzheimer’s disease were diagnosed before age 65, according to recent estimates.

Still, that means that approximately 200,000 Americans like Elisa are now living with the disease and, because they are younger, are often misdiagnosed or their diagnosis is delayed because the link to Alzheimer’s disease is not immediately recognized.

Elisa Hoffmann with her children, Amanda and Brian, in Montauk, New York.

Mr. Hoffmann says he is sharing Elisa’s story because he wants to help raise awareness about Alzheimer’s and, more specifically, how it is not a disease that only affects senior citizens. He wants more attention given to the fact that those in their 30s and 40s can get the disease, and wants more funds directed to research focusing on this younger set.

“I get so many questions from people,” Mr. Hoffmann says. “When they see her, they always say that she’s so young, and ask how she got the disease. I have to explain that she inherited it from her father.”

He later added: “You don’t have to be elderly to get the disease—my wife is living proof of that.”

While there is no known cure for Alzheimer’s, its effects can be treated with medications designed to slow down the nerve destruction that the disease causes. Mr. Hoffmann recalls the disease being fairly aggressive the first year, and that most of his wife’s functions deteriorated within the first three years of diagnosis before stabilizing.

Then the blood clot appeared in May, robbing Ms. Hoffmann of her ability to walk and talk. Still, her husband notes that his wife of 27 years still has her own way of communicating with those caring for her around the clock.

“When she looks at me she smiles, so I think she still has an idea of who I am,” Mr. Hoffmann said. “When she sees my son, she lights up and stares at him as he moves around the house.”


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