The Wandering

That was the beginning of a 3-year journey for Cynthia and her son Ed Ortiz. It’s led from primary care to a local neurologist to world-renowned Alzheimer’s experts. From a regional hospital to a premier dementia center to an academic powerhouse.  She’s enrolled in ground-breaking clinical studies. She’s been tested, questioned, venipunctured, tapped, and imaged.

For three years, she was an Alzheimer’s patient. Now she’s something else.

Like so many with dementia, Cynthia worked her way up the diagnostic ladder.

Her primary care doctor was the first to sound the alarm – after the visit with the note, she wouldn’t let Cynthia drive home. Instead she sent her in an ambulance to a local emergency room to try speed up her contact with neurologists.

Somewhat predictably, that plan backfired.

When she connected with a local neurologist, he employed the usual inquiries – history, clinical exam, and neuropsychological testing – and concluded she had dementia.

Ed and Cynthia had some serious thinking do. He hired someone to help his mom, as Cynthia couldn’t work anymore. She had been spending days alone in her house, not washing or changing clothes. There was another car incident– Cynthia went to get ice cream, got lost on the way, flustered and intimidated by a car behind her, and just closed her eyes and pulled out into traffic. Thankfully, no one was hurt, but it was the last time she drove.

Moving his mother closer to Napa was the only sensible approach for Ed. They found The Meadows of Napa Valley, a long-term care facility with separate wings that accommodate those like Cynthia, who needed only modest support, and others who need full care. Cynthia has a small efficiency with a little kitchen. She makes tea and coffee and snacks there, but eats all her meals in the dining room with friends.

She doesn’t visit the dementia unit – she calls it “the other side.” It feels a little morbid, she said, like going to the funeral home and picking out your own coffin.

The move to a new home also brought a move to a new physician. Cynthia became a patient of Dr. Gil Rabinovici, a neurologist at the University of California San Francisco Memory and Aging Center with a special interest in neuroimaging.

She also reported “blanking out episodes” – brief periods of up to 30 seconds where Cynthia was unresponsive to conversation. She couldn’t completely articulate why this happened, or even what it felt like. She had a small essential tremor of the left hand, but not enough to be considered Parkinsonian.

He kept Cynthia on her medications, which included rivastigmine and escitalopram, and enrolled in an ongoing study of amyloid brain imaging in Alzheimer’s disease. But the scan threw a question mark in Cynthia’s diagnostic pathway. She had none of the amyloid plaques that are a pathologic hallmark of Alzheimer’s disease.

A negative amyloid scan indicates sparse to no plaques, and is inconsistent with a diagnosis of Alzheimer’s. A negative scan in a patient like Cynthia should prompt aggressive investigation into other possible reasons for her cognitive issues, Dr. Rabinovici said. Some of these might be treatable, allowing the patient to at least partially recover.

An EEG ruled out seizure as a cause of the starting spells. Cynthia’s primary care doctor had ordered a sleep study, but Dr. Rabinovici ordered another one. It uncovered some significant apnea – a problem that affects the formation of spatial memory. He prescribed a continuous positive airway pressure machine, although Cynthia wasn’t able to use it very effectively. She often dreamed she was struggling with a snake and woke to find the mask ripped off and thrown across the room.

Other investigations into a treatable cause were either negative or inconclusive.

The transitions – from home to efficiency, from doctor to doctor, and from diagnosis to questions – were not easy to navigate, Ed said.

Even with his experience in healthcare administration, Ed was frustrated. Cynthia’s’ primary care doctor demanded validation in order to submit paperwork for Medicare disability, but wouldn’t accept information that came to her third-hand. “Dr. Rabinovici didn’t accept the initial sleep study because it wasn’t comprehensive enough. But he sent us to Stanford for the new one.” Ed sees him mom as more of a research subject at UCSF, and had to get a primary neurologist to look after her continuing clinical care.

Once Cynthia settled at The Meadows, Ed and the staff worked hard to improve her life in other ways.

Perhaps most importantly, Ed said, his mother was losing a sense of purpose. Together they contacted the Alzheimer’s Association.

Cynthia became a member of the association’s national Early-Stage Advisory Group. In that role, she served as a spokesperson and advocate.

She even wrote an essay, “Remember Me,” for one of the popular “Chicken Soup for the Soul” books.

For most of the past 3 years, Cynthia’s cognitive scores remained stable. Alzheimer’s progression is invariable clinically but infinitely variable individually, Dr. Rabinovici said.

In the past year there have been signs of slow change. Cynthia seems quieter, Ed said. She’s sleeping more. She wasn’t as engaged with others. She doesn’t feel up to public speaking any more.

In May she visited Dr. Rabinovici again. His clinical detective was immediately on alert . the first thing he noticed was an increased tremor.

“When I saw her in the waiting room, I knew we are on to something that would finally explain what was going on. I had initially thought this longstanding essential tremor was unrelated to cognitive symptoms. But it’s developed into a very prominent tremor in both hands.”

She’s also begun to experience visual hallucinations.

“I don’t see things for what they are. I was knitting and saw the little yarn balls – I thought they were flies. There was a man at the end of the hall, but he turned out to be a laundry bag. I see shadows behind me. I’m afraid someone will be in the shower.”

These signs and symptoms , along with the negative amyloid scan, were valuable clues.  Together, they point to a new diagnosis for Cynthia: Lewy body disease.

Visuospatial impairment, including hallucinations, is a core feature of the disorder, as are fluctuations in cognitive impairment – especially attention and alertness. Parkinsonian symptoms may be present as well.

A conclusive diagnosis of dementia types is  critically important in medical management. Patients with Lewy body disease are exquisitely sensitive to neuroleptics, which may be prescribed to Alzheimer’s patients who develop psychiatric symptoms. – the drugs can cause devastating exacerbation of motor symptoms.

If Cynthia is no longer a nurse, no longer an independent woman, no longer even a person with Alzheimer’s, who is she?   She’s still herself, she said – and fretting won’t change anything.

In Dr. Rabinovici’s eyes, she’s a person who, though shouldering a burden, has accomplished a lot – and has more to do.

“The fact that she doesn’t have amyloid in her brain doesn’t negative the fact that she had disabling symptoms. AD is the most famous cause of dementia but not all dementia is AD and it’s important people realize that.”

In Ed’s eyes, she is still the mother he’s vowed to keep safe.