The Diagnosis Nobody Ever Wants to Hear

You have been living a full, healthy, and normal life when it starts. It doesn’t announce itself – quite the opposite, in fact - and begins with a little memory loss, forgotten words, people, places. “I’m getting old,” you joke.

But that’s not all. Soon, routine elements of your daily life become trickier. The world starts speeding up and getting more complex. You grow frustrated and anxious more often that you did. Then a fall. “Legs not working,” you joke.

More forgetting. Now you’re becoming disoriented more easily. The world is both closing in and moving away. Others notice fits of anger in you. Once friends, recognition and understanding are now enemies, struggles. You’re not yet fully aware, but life as you knew it is gone.

The diagnosis of dementia can sometimes come as a shock, but often it is the culmination of a long process of slow and subtle deterioration, of growing realisation, and of worst fears coming true. Your loved ones see it in you more readily than you do and are seldom shocked by the medical judgement. It simply confirms their suspicions, even though they hoped they were wrong. 

For both the person diagnosed and the person who will now have to care for them, it can be an overwhelming ruling akin to a death sentence. Dementia is a progressive disease with (as yet) no cure. It robs people of their independence and personality.

Yet it often strikes the old, so it was with great shock that Hollywood actor Chris Hemsworth, aged just 39, found out recently that his genetic makeup meant that he was far more likely than most to get this most awful of illnesses. It led to life changes.

The star of ‘Thor’ and ‘Extraction’ was presenting a documentary on ageing when he found out that within his DNA he carried not one but two copies of the gene APOE4, which predisposes the carrier to dementia. One in four of us has one copy, but only around one in 50 of us has two. Having two copies does not always mean that the person will develop dementia, but it is “the strongest risk factor”.

If you were to look for dementia, of which Alzheimer’s is the most common type, you would look at the brain through an extremely powerful microscope to find the brain’s information messengers, called neurons. They are hugely important. They use electrical impulses and chemical signals to transmit information between different areas of the brain, and between the brain and the rest of the nervous system.

If you were to see amyloid plaques clinging to these neurons, you would have found the hallmark of Alzheimer’s. How these plaques build up – and how to stop them from doing so - is today’s big question. Many think it involves APOE, a protein that helps carry cholesterol and other types of fat (or lipids) in the bloodstream.

Scientists now know that problems with brain cells’ ability to process fats/lipids can play a key role in the development of dementia. Lipid imbalances can impair many of a cell’s essential processes. This includes creating cell membranes, moving molecules within the cell, and generating energy. 

Work in this area is complex and fascinating. Researchers create brain cells (by reprogramming skin cells from APOE4 carriers) then test both their theories and potential treatments on yeast cells. Recently, choline supplements were shown to restore normal lipid metabolism, prompting further study. For a “cutting edge” of medicine, look no further.

All of this seems far removed from the sufferer, whose thoughts are not on lipid imbalances or APOE proteins but on who this person is in front of them, who’s been talking to them for the past hour and who seems ever so familiar.

To the sufferer’s family, it is the cruellest of ticking clock diseases. Over time, their loved ones leave them, but their body remains. Occasionally they catch glimpses of the ‘old them’, but these glimpses become rarer, before stopping altogether. The amyloid plaques have stripped the sufferer’s character. They strip the person but leave the shell. The sufferer can spend a lot of their time confused, which simply compounds the hurt of their family.

A support network in these circumstances is not a luxury, it is essential. Someone with early-onset dementia can live at home but usually cannot be left, which greatly reduces a carer’s freedom. Over time, the home can grow dangerous, with every-day household appliances (hobs, toasters etc) suddenly presenting a risk. Without meaning to be, the sufferer can become a danger to themselves and others.

The demands on the carer will, at some point, become too much. External help will be needed. At this point, if not before, social services and/or medics will usually help a family put a plan in place to manage the sufferer’s deterioration. Such a plan may or may not include a ‘Do Not Resuscitate’ (DNR) notice. 

The end point will often be the sufferer’s move to a specialist nursing home. This brings not just emotional upset but also the practical difficulty of completely upending the sufferer’s whole navigation system. Overnight, the lay-out they knew and relied upon is gone. Suddenly, they are in a new place, with new faces, all of which is unfamiliar. The move itself – though necessary – can prompt a hastened decline.

Speaking to Vanity Fair, Hemsworth described the realisation that he carried two APOE4 genes as “a really good catalyst to dive into everything I needed to be doing in either the prevention front or the management front”. He added that there was “an intensity to navigating” the news, just as there is to navigating a diagnosis.

“Most of us, we like to avoid speaking about death in the hope that we’ll somehow avoid it. We all have this belief that we’ll figure it out. Then to all of a sudden be told some big indicators are actually pointing to this as the route which is going to happen, the reality of it sinks in. Your own mortality.”