'There was no hope': Treatable disease often mistaken for Alzheimer's

When John Searle started to fall down and lose his memory, he thought it was the early signs of dementia. But it turns out he has a rare - and often undiagnosed - condition called normal pressure hydrocephalus. The good news is it's treatable.

A few years ago, John Searle thought his life as he knew it was over.

His body had slowly stopped working. He had trouble walking, he was falling down, he had bad short-term memory and, at 69, he was incontinent.

It was a pattern of decline the retired Canadian engineer from Brantford, Ontario was all too familiar with. His own sister had died of Alzheimer's in her 50s. His father had died of dementia in his early 80s. So he began to start planning for a future he would not be able to participate in.

"You kind of wonder where you're going. You start thinking, is this it?" he says.

Doctors could not give him a definitive diagnosis, which only infuriated the retired engineer more. Parkinson's treatment had no effect, he didn't have Alzheimer's but something was clearly not right. By 2018, he needed a wheelchair to go outside, and a walking frame inside his own home.

After spending years unable to travel without a wheelchair, John Searle is finally able to go on vacation with his wife

"There was no hope, I was sitting in the window watching life go by."

"He was angry - he was beyond angry," his wife Barbara chimes in. "There were nights when I was laying in bed thinking maybe I'll have to sell the house... because I had to do everything."

But that changed when he met Dr Alfonso Fasano, a neurologist at the Movement Disorders Clinic at Toronto Western Hospital, who diagnosed him with a condition called normal pressure hydrocephalus, or NPH.

The disorder is caused when excess cerebrospinal fluid accumulates in the brain's ventricles, which are the communication centre of the mind.

This build-up of fluid can cause movement difficulties, memory and cognition problems and incontinence - symptoms that are also often associated with more common degenerative illnesses, like Alzheimer's, Parkinson's or dementia.

Hydrocephalus Canada estimates that at least 1 in 200 Canadians over the age of 55, or more than 57,000 people, have NPH. In the US, the Hydrocephalus Association estimates that 700,000 Americans are afflicted, but that only about 20% of people living with the condition been correctly diagnosed.

"NPH is a condition that is not well understood yet," says Dr Fasano. Untreated, people may wind up in a nursing home, or die from complications. "That's what we don't want to see, people just dismissed," he says.

Mr Searle first heard about NPH when he saw a specialist to treat migraine headaches in 2003. An MRI revealed some fluid in his brain's ventricles, but because he had none of the telltale symptoms, he was not diagnosed.

In 2014, after several years of experiencing symptoms like memory loss and mobility difficulty, doctors did a lumbar puncture to drain some fluid from his brain to see if his symptoms improved, a common test for NPH.

Because Mr Searle's symptoms did not improve, his doctors determined NPH must not be the culprit.

Eight years after 2010, when he first noticed the mobility issues and with his health rapidly deteriorating, he met Dr Fasano and agreed to try the test again.

This time, his wife Barbara noticed small improvements - so small that even her husband did not notice them.

"He wouldn't believe it," she said. "It was almost like 'if I believe it and they're wrong, it will be too big a disappointment.'"

Dr Fasano suggested they insert a shunt into his brain to drain the fluid, the front-line treatment for NPH, with a high success rate according to recent studies.

Shunt surgery can have serious complications and is not recommended for everyone with the condition.

More than a year later, and Mr Searle says he is beginning to get his life back. His gait has improved as well as his memory. He regularly works out with a personal trainer at the gym and goes on walks to help build his strength back up.

"The operation is only 50% of it, the rest is your mindset," he says.

Dr Alfonso Fasano says while most patients diagnosed with dementia were diagnosed correctly, a small percentage may have NPH

Although he still does not have his drivers licence, Mr Searle and his wife have started to travel again. They went to Florida last winter, and they're planning trips to Las Vegas and Jamaica.

Barbara says the biggest change is her husband's mood:

"The apathy that plagued him is gone. He's his cheery self again."

Dr Fasano says since Mr Searle's story was shared with the media, the clinic has been overwhelmed with requests from patients who believe they have been misdiagnosed and have NPH.

Although misdiagnosis of NPH is a very real problem, Dr Fasano warns that most people who have been diagnosed with Parkinson's or Alzheimer's have the correct diagnosis - especially if they've been seen by a neurologist.

Up to 3% of the population over the age of 65 may have NPH, according to a recent study from Japan. The World Health Organisation estimates dementia, including Alzheimer's, affects between 5-8% of the population over 60.

"This is a disease that is probably more common than we think it is, and this is a disease that can be treated very well, with a huge dramatic change of quality of life for these people," says the doctor.

"At the same time, people are now believing that if they have Parkinson's, they were misdiagnosed.

"They all hope the doctor was wrong."

(Source: BBC)

Alzheimer’s blood test could predict onset up to 20 years in advance

US scientists say their blood test can be 94% effective in spotting those at risk of the illness

A blood test that can detect signs of Alzheimer’s as much as 20 years before the disease begins to have a debilitating effect has been developed by researchers in the US.

Scientists at the Washington University School of Medicine in St Louis in Missouri believe the test can identify changes in the brain suggestive of Alzheimer’s with 94% accuracy, while being much cheaper and simpler than a PET brain scan.

The results of the study, which was published in the journal Neurology on Thursday, represent a potential breakthrough in the fight against the disease.

“Right now we screen people for clinical trials with brain scans, which is time-consuming and expensive, and enrolling participants takes years,” said the senior author, Randall Bateman, a leading professor of neurology.

“But with a blood test, we could potentially screen thousands of people a month. That means we can more efficiently enrol participants in clinical trials, which will help us find treatments faster, and could have an enormous impact on the cost of the disease as well as the human suffering that goes with it.”

 PET scan results that formed part of earlier research into Alzheimer’s disease. Photograph: Evan Vucci/AP

The researchers said they had found a way to measure levels of the protein amyloid beta, a key indicator of Alzheimer’s, in the blood. They can then use such levels to predict whether the protein has accumulated in the brain.

That analysis could then be combined with two other major Alzheimer’s risk factors – age and the presence of the genetic variant APOE4 – to accurately identify the relevant changes in the brain.

The researchers said the clumps of protein begin to form in the brain up to two decades before the onset of the characteristic memory loss, suggesting the tests could be used to predict Alzheimer’s years in advance.

However, the benefits of such testing would not be seen to their fullest extent until treatments to halt the disease are developed.

In January 2018, a team of scientists revealed their work on a test that used mass spectrometry techniques to identify patients with a rogue peptide in their blood plasma, indicating a buildup of beta-amyloid in the brain.

The latest study looked at 158 people aged older than 50. All but 10 of the participants in the new study were cognitively normal and each provided at least one blood sample and underwent one PET brain scan.

The researchers found that the blood tests gave the same results as the PET scans 88% of the time, which was not satisfactory. In order to improve the accuracy, the scientists began incorporating the other risk factors, increasing the accuracy to more than 90%.

(Source: The Guardian)

France is building an “Alzheimer’s village” for patients to live in freely

In southwestern France, a revolutionary project is underway to build a facility that allows Alzheimer’s patients to live comfortably. The Village Landais Alzheimer in Dax will be a space where those with Alzheimer’s will live freely, without medication, in an enclosed enclave designed to mirror the freedom they enjoyed while maintaining safety.

The project was inspired by a similar site in the Netherlands, which spurred then-local MP Henri Emmanuelli to take up the cause. Known as “Alzheimer’s Village,” the facility not only has different housing areas with residences built to suit different tastes, but also has a supermarket, hairdresser, library, and gym among other facilities. The idea is that an increase in freedom will also increase happiness, and bring down the need for medication. Residents will not be able to leave the site, and will be cared for by plain-clothed medical staff.

Neurologist Jean-François Dartigues says that by maintaining a typical lifestyle, patients will continue their normal social routines and exercise their brains. “They will find a form of integrity, social, human. They will do their shopping, go to the hairdresser, the bistro, the restaurant, the theater,” he shares. “They will have fun. What constitutes a form of extraordinary therapy.”

To ease the transition, Champagnat & Grègoire Architects and NORD Architects designed a village that adheres to the traditional architecture of the region. Built to resemble a medieval fortress town typical of the Landes area, houses are grouped in blocks of four around a courtyard, with each area having a distinct identity. Walkways draped with nature connect the areas, with the paths providing sensory stimulation and a way for the patients to interact with nature.

In addition to medical staff, researchers and volunteers who organize activities will become a part of village life. The Alzheimer’s Village is currently under construction, with an aim of opening by the end of 2019.

(Source: My Modern Met)