Anyone had genetic testing for early onset Alzheimer's in the family?

[GeneticTestingYesNo]

Hi all

Regular user but have name changed for this board.

My father was diagnosed with early onset alzheimers at 60, and at 66 is now in end stages. He was apparently showing signs/symptoms for several years prior to diagnosis.

The relationship between his partner/him and I has been a little strained over the years however since the diagnosis I have been making the effort to visit more, be as involved as I can and so on.

His partner casually mentioned very recently that his early onset alzheimers is the genetic version, and given that his grand mother died of what was then called senile dementia, and his mother was showing signs of dementia before dying of an unrelated condition, it seems that it does run the family.

She mentioned that I would be eligible for the testing to see if I have the faulty gene, but couldn't really give me any further info.

I have a called booked with someone from the Alzheimers Society next week, and I understand that there is a course of pre and post testing counselling surrounding being tested.

But I wanted to know if anyone has done this testing themselves, and can give an insight into how long the process took, briefly what it involved and if there is anything specific I should ask about when I speak to them next week?

For context, I am male, late 40s, in reasonable health, but am a smoker and always suffered from poor sleep which I understand both can be risks for developing Alzheimers/Dementia.

I also have a teenage son, who is aware of his grandfather's diagnosis, but for various reasons does not really see him now, although will ask how he is doing and shows a brief interest in what his symptoms are. Obviously I will need to have a conversation about this with him at some point in the near future.

Thank you

I have a friend who refused it. She had a 50% risk of having got the genes from her mother, and her brother had it, and her risk of Alzheimer's if she had the gene was 100%.

She decided that she simply didn't want to live each day waiting for the symptoms to start if she was positive, and chose instead to hope for the best that she wasn't. She's now approaching 60 with no symptoms so we hope she's clear.

I really feel for you with this dilemma. It took quite a toll of my friend. In your shoes I would prefer to know what I am dealing with. There is, for example, as far as I understand it, sod all point in worrying about smoking if you have the gene. And if you don't have it, it will be worth you really making an effort to stop smoking and improve your sleep.

My decision would also be based on whether the generic variant can be slowed by early access to the newest drugs, because if it can the sooner you know the better. You might also like to look at the research they are currently doing into the ability of the herb cats claw to sweep tangled tau proteins out of the brain.

Best wishes.

I know someone who's grandma had it and she did the 23 and me test which showed she has the markers for Alzhiemers. I don't know if there is a test for "early onset" but I thought that was more pre-60's? I thought you either have the genetic variation or don't and they can't say if it will happen early without brain scans, but I might well be wrong!

Apparently the genetic testing will show if I have the specific gene that will 100% cause the early onset version, but if I don't have it, it doesn't mean I could get another version. I'm pre-60 and my dad was diagnosed at 60, so I believe I would be eligible for it and it would show if I had the gene defect or not.

The alzheimers society don't recommend the direct to consumer tests, so 23 and me etc, but I will discuss this next week.

I think I want to know one way or another, so I can at least get things as ready as I can, unlike my dad who was diagnosed relatively out of the blue, causing him to lose his job overnight, without sufficient financial support in place.

If I don't have it, then yes @Imdunfer I'm hoping it will help me re-evaluate things and give me the final push I need to try and finally salvage some good habits.

If I do have it, then I believe there is a possibility of medication that might slow it down, but again, I need to discuss this with the AS.

I'd not heard of cats claw so will look at that as well. Thank you

What is the genetic version of alzheimers? My father has early onset. His mother died too early of something else for us to know whether she did. His father died from cancer later in life. His siblings don't have it although one does have alzheimers symptoms (also early onset) but have been put down to a stroke.

@underthehawthorntree

Until I speak to them, this is all the info I have

https://www.alzheimers.org.uk/about-dementia/genetic-testing-dementia

I was told vaguely by his partner that my father's version is genetic, and I am eligible for testing to see if I have the genetic predispostion for it. But I don't really have anything else at the moment.

My friend's mother died in her early 60s and passed genes to her son that, from what my friend says, made it absolutely guaranteed that he would get it young as well. He died in his late 50s. She had a 50/50 chance of having been given the same genes but it looks as if she has escaped them. I'd never heard of it until I met her, it's a real curse, whether you do the test or not.

A recent story from the BBC also

BBC News - FTD Brothers pass £1m goal with fridge marathon runs - BBC News
www.bbc.co.uk/news/articles/c3w289qwjvgo?app-referrer=deep-link

How did they know your fathers version is genetic @GeneticTestingYesNoof you don't mind me asking?

My dad had early onset alzheimers in his mid 50s. Ive just hit 50 and ive asked my kids to tell me if they think I start showing signs. However I wouldn't want to know if I have a genetic disposition for it as I know it would make me unbearably anxious, so I choose to keep living my life as I am, after all even if im disposed to get it I could just as easily get something else before that.
Its a highly personal decision to take the test and theres no right or wrong decision. I wish you well with yours.

I've been told by his partner, but not really given much more info unfortunately yet. I can find out what version it is, like I said, the relationship has long been a little strained. When she told me I didn't think to ask anymore as it took me by surprise.

I didn't even know he was getting tested for it, until he told me after his diagnosis. He'd had the symptoms/signs for a few years, which looking back makes complete sense.

DW doesnt want me to get tested I don't think, but will support whatever decision I make. The elephant in the room is that I have always been a supporter of assisting dying, and made my feelings/wishes in the event of a terminal diagnosis clear.

Obviously that won't happen in the UK anytime soon, but I don't see my position changing in the event I do have the gene. But that's a whole other thread!

There's a lot to think about.

I think i agree with you that I wouldn't to live into old age knowing if I knew 100% I was going to get alzheimers. Then again what I would say is that I've recently been diagnosed with a genetic condition. The reality of the diagnosis has felt different to how I thought I would feel before I received it. But again that's a whole other thread!

I think it is also worth mentioning APOE testing, because it has become much more relevant now that we finally have disease-modifying treatments for Alzheimer’s.
We all inherit two APOE alleles, one from each parent. APOE4 increases the risk of developing Alzheimer’s, especially if you have two copies. It is not the same as one of the rare genetic mutations that directly causes familial early-onset Alzheimer’s, but it is still important to know because APOE status now affects treatment options.

Both Leqembi and Kisunla are licensed in the UK for people in the very early stages of Alzheimer’s, although they are not currently routinely available on the NHS and private treatment can cost tens of thousands of pounds, sometimes approaching £100,000 once monitoring and scans are included.

Importantly, people with APOE4/4 — two copies of APOE4 — are excluded from the UK licences because of the higher risk of brain swelling and bleeding. People with one APOE4 copy can still potentially be eligible.

This is why I think early diagnosis matters so much. These drugs do not reverse Alzheimer’s; they are designed to slow progression while someone is still at the mild cognitive impairment or mild dementia stage.

The earlier you know what you are dealing with, the better the chance of still being within that treatment window.

The situation is also changing quickly. Leqembi and Kisunla are already being used in the US and are available in parts of Europe, including Germany and Austria under reimbursement arrangements. Newer treatments such as trontinemab are now in late-stage trials.

Personally, if Alzheimer’s ran in my family, I would want to know my APOE status. I completely understand that some people would rather not know, but the old argument that “there is nothing you can do anyway” is becoming much less true.

Thanks @MysticalMelody for a comprehensive reply. Something to think about. I'm not sure about the APOE4 thing, as I read this in the Alzheimers Society website:

However in most families dementia will not be caused by a single-gene change. In these cases, genetic testing will not be appropriate. This is because testing for risk variants (like APOE4) does not provide any certainty about the person’s chances of developing dementia.

But its certainly something I can ask them about.

Absolutely — I think we are talking about two slightly different things. APOE4 is a risk variant, not a deterministic gene mutation, so having one or even two APOE4 alleles does not mean with certainty that somebody will develop Alzheimer’s. That is exactly the point the Alzheimer’s Society is making here:
https://www.alzheimers.org.uk/about-dementia/genetic-testing-dementia

However, I do think there can still be considerable value in knowing your APOE status, particularly where there is a family history. Knowing that you carry an increased genetic risk may encourage you to read much more about Alzheimer’s, pay closer attention to modifiable risk factors and, importantly, take possible symptoms seriously and seek assessment much earlier rather than waiting until the disease has progressed.

And this is an important statistic from the Alzheimer’s Society itself: “Nearly two out of three people in the UK who get Alzheimer’s disease have this version of APOE.” They also describe APOE as the most important risk gene for Alzheimer’s.
https://www.alzheimers.org.uk/about-dementia/types-dementia/who-gets-alzheimers-disease

That is particularly striking if you follow what is happening with the new disease-modifying treatments. It very quickly becomes apparent how many people with Alzheimer’s who are being assessed for or receiving these treatments carry at least one APOE4 allele.

APOE status has now become clinically important for another reason as well. Leqembi (lecanemab) is licensed in the UK for people with early Alzheimer’s who have one or no copies of APOE4. People with two copies — APOE4/4 — are excluded from the licensed treatment population because they are at substantially greater risk of ARIA, the brain swelling and bleeding associated with anti-amyloid treatment.

This is reflected in the NICE appraisal of lecanemab:
https://www.nice.org.uk/guidance/gid-ta11220

So I certainly would not regard knowing your APOE status as pointless simply because it cannot tell you with certainty whether you will develop Alzheimer’s. It is information about risk, and for somebody with a family history that information may encourage prevention efforts, greater vigilance and, crucially, much earlier investigation if symptoms ever appear.

That matters enormously now because the new disease-modifying treatments are intended for early Alzheimer’s disease. The earlier the diagnosis is established, the greater the opportunity to be considered for treatment while someone is still within that treatment window.

So yes, the Alzheimer’s Society is absolutely right that APOE4 is not a diagnosis and does not predict anyone’s future with certainty. But in my view, that is rather different from saying that knowing your APOE status has no value. In the era of disease-modifying treatments, it can potentially influence not only how closely you monitor your risk, but ultimately which treatments you may be eligible to receive.

I have a copy of the Apoe4 gene, which I found out through 23and me - great 50th birthday present!

For me it’s been an absolute curse finding it out, and it has had a devastating effect on how I live my life. It all just feels a bit futile, and its rare that a day goes by that I don’t think about it, its certainly caused me depression, and yes, I know that theres no guarantee that I’ll go onto to develop it, but I’ve also had some significant health issues, a rare autoimmune disease that caused widespread vascular inflammation, certainly not what you need when you have a copy of the Apoe4 gene.

My Neice who’s involved professionally in genetics has suggested that all 42 of her cousins are tested due to whats going on amongst the older generation as well as conditions in the younger generation. Quite honestly the family is the equivalent of a genetic mess and I can understand why she’s suggested it. I believe if it’s known you have the genes for the likes of dementia that you can start treatments years beforehand that delays the onset of symptoms but I may have misunderstood that.

https://www.advancetests.com/?utm_source=google&utm_medium=ppc&utm_campaign=sayhello&utm_term=blood+test+for+alzheimers

This is something I am considering.

Thank you @MysticalMelody I really appreciate that. You've made it make things clearer for me.

@Americanstyle Thank you for sharing and I am sorry to hear the news and the effect its had. Do you wish you hadn't found out?

@CariadDarling Yes I think finding out would help if I could start delaying treatment.

Thanks @sunandpeonies. That doesn't look like the genetic testing that I am considering and may be eligible for, and is of the type not recommended by the Alzheimers Society so not sure if I would do that one myself.

I only really want to know, I think, if I have the gene that makes it a certainty rather than a "probability".

I just remembered I had a 23andme test many years ago and was able to find my results.
It says I do not have the Apoe gene and that chances are low for Alzheimer’s.
Interesting.

In some ways, knowing your APOE status gives you information that many people only discover much later.

That matters because early diagnosis is becoming increasingly important.

Blood tests such as p-tau217 (mentioned above) are also making early detection much more realistic.

There is a great deal happening in Alzheimer’s research at the moment, and I genuinely think there is much more reason for hope now than there has ever been before.

It is not a curse. It is knowledge.

At the moment, you can pay privately for a p-tau217 blood test and get an indication of whether Alzheimer’s-related tau changes are showing up.

It is not cheap, but I would much rather pay a few hundred pounds for early testing than face the enormous cost of residential care later.

Hopefully, amyloid-clearing drugs will soon become routinely available on the NHS. To me, this is also part of the answer to the social care crisis: prevention, prevention, prevention — detect the disease early and treat it early, before people reach the stage where they need full-time care.

There is still no cure and I doubt very much that there will be in my lifetime. It’s a horrible, cruel disease and there’s nothing anyone can say that will take that fear away for me. Yes, it’s knowledge, as in being able to put plans into place when/should that time come, but then, only if I’m self-aware enough.

Just a small update - spoke to the Alzheimers Society who said that the genetic testing does not 100% confirm you would get Alzheimers if it came back positive, which contradicts how I read their website. I pointed this out, and she agreed it was not worded very well and will pass it on. She re-iterated that a positive test does not mean someone would 100% get it.

I did ask about the brothers in the story above and she said that she couldn't comment on specific cases and could only repeat what she had said. She then said she would send me some info, which turned out to be a link to the website which we had been discussing.

So then said that any testing has to be arranged through my GP.

So not massively helpful and I don't feel either more or less informed.

So, on to my GP I think to discuss my options.

This directly conflicts with what my friend was told about the genes her mother passed on. I think, though, hers was the FTD gene which does appear to be 100% risk.

Do you know what genes are involved in your family?