Getting a genetic test for familial Alzheimer’s disease at 25

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By Jess Fleig | Wednesday 30 August 2017

This blog is a cross-post with The Huffington Post.

When people hear the word Alzheimer’s, many envision an elderly person shut away in the depths of a care home.  As a 25-year-old, I was all too aware that young people assume that it’s a natural part of ageing, and nothing for them to worry about yet. But it’s not, it’s a brain disease that strips everything away from the individual – and it doesn’t just affect the elderly.

For an unfortunate few of us it’s something that will have a huge impact on our lives, from the second we’re born to the moment we die.

Around the world there are only a few hundred families who have been identified as having a rare, inherited form of the disease. Familial Alzheimer’s accounts for less than one percent of Alzheimer’s disease cases, and usually takes effect before the age of 65. For some, it is as young as 30.

My dad started showing the symptoms of Alzheimer’s when he was just 41, and I was just 11. His dad, grandmother, and dad’s cousin had already died from the disease, and his younger sister soon got it too. There is now a young generation of our family waking up to the reality that we’ll be next.

Ian Fleig & daughter Jess at the London DIAD Family Conference. (Photo by John Robertson )

In my late teenage years I found out I had a 50% chance of inheriting early-onset Alzheimer’s – caused by a fault in the amyloid precursor protein (APP) gene – from my dad. I put myself forward for an observational research study called DIAN, on a yearly basis being given psychological tests, MRIs, PET scans and lumbar punctures – all in the hope that one day it would lead scientists to a cure.

Then came the prospect of genetic testing. A simple blood test could tell me if I had the faulty gene, and if I did I would be certain to develop the disease, up to five years either side of when my dad did. This would mean developing symptoms as young as 36. Or, I could be told I didn’t have the gene, in which case I would be like any other member of the population – free from its shackles.

For me, it was a no-brainer. I’d either get to live my life knowing I would not develop it, or I’d have a sense of control and certainty, knowing how I could plan my finances, plan a family, and mentally prepare for what was coming. But I’m in the minority – only 20% of those who have a genetic risk of dementia go on to find out their genetic status. Only 40% of those who go to a geneticist actually go through with the test. There are a number of reasons for this, and they’re important ones. There is currently no cure for dementia, and drugs on the market only treat the symptoms – they can in no way slow down the progression of the condition. Despite this, I still had to know.

It took three visits to the GP to be taken seriously. I was twice told to go away and ‘have another think’ before deciding, another issue for those wanting to get the test. I was probably assumed to be too young to not regret my decision. Unfortunately, because it is so rare, there was very little out there to help me decide. I sat on search engines trying to find a personal account of what it might be like. And that is why I’m writing this piece – so that others in the same position may see this article and feel more empowered to make the right decision for them.

I was finally referred to the clinical genetics department of my local hospital, where I was seen by a geneticist in September 2016. Every person will go through at least a couple of counselling sessions before being given their results. The first session was about my reasons for wanting to know and my current lifestyle, and the second in November involved talking to my partner and I about pregnancy options in relation to potentially passing on the gene to future children.

It was then I found out that if I did have the gene and wanted to ensure my children wouldn’t get it, having a child would be a lengthy and complicated process. I would have to go through preimplantation genetic diagnosis (PGD), which involves undergoing normal IVF treatment before checking the genes of embryos and transferring the unaffected ones to the womb.
After my second session, the geneticist felt I was ready to have the test, with being so sure of my decision, in a stable relationship, and aware of the implications with help from my place of work, Alzheimer’s Research UK. The test involved some blood being taken and sent off to a lab for analysis. After a gap for Christmas and moving into my first home, I came back on 22 February for my results.

Nothing could truly have prepared me for that moment. It’s life-altering, and for weeks before it I went into a strange state of mind – completely sure that I had it and unwilling or unable to think of the alternative. I thought about it all day, and would wake up repeatedly in the night with it at the forefront of my mind.

You often hear people talk about ‘life-changing experiences’ – but I don’t think I’ll ever enter a room again knowing that the next few words spoken will truly change everything.

I feared an X Factor-style pause for effect as the answer was given, but thankfully the genetic counsellor took less than five seconds after sitting down to say “you don’t have the gene.” I burst into tears at the unexpected result.

As I got up to leave, I felt only relief. But the genetic counsellor said: “Believe me, you’ll feel up and down for a good couple of weeks.”
He wasn’t wrong – there is an intense survivor’s guilt when you find out you don’t have the gene but your siblings and other relatives are still at risk. I’d been in the same boat as my sister my entire life, with both of us potentially facing this terrible fate together. Now I’d abandoned her to face it on her own. Telling my family was extremely hard despite the seemingly good result.

Six months later, the news has sunk in. It’s hard to know what it would have been like if I did have the gene. I would hope for those who have got a positive result, it would bring them some relief or calm to be given some certainty, and help them plan for the future.

In July, London hosted the Dominantly Inherited Alzheimer’s Disease (DIAD) Conference, an annual international meeting for those with inherited Alzheimer’s disease in the family, which was aptly called ‘Key to the Cure’. People like us are in a unique position to help scientists hunt for both biomarkers of the disease, and treatments that can be tested at the earliest stage, before symptoms have even begun. Seeing the close bonds being formed, and the advice and support shared by the families across the world was hugely uplifting.

If you’re deciding whether to get a genetic test, it’s worth remembering that it isn’t just dementia that’s a terminal diagnosis – life is. If your reasons for wanting to know are so that you can live your life to the full, why not book that holiday you always wanted, or run that marathon you always thought about anyway?

And for those, like me, who feel the need to open Pandora’s Box, but are still terrified of what will come out, know that others have been in the position and are ready to help.

For more support, go to or to read about the genetics of dementia go to


  1. Eilish Horn on 31st August 2017 at 9:50 am

    A interesting blog Jess, so pleased your test gave you the result you wanted!
    It is like opening a can of worms and I can see how pre-counselling is so important.
    the big question is do we really want to know ?
    As a dementia support worker I have this debate with my colleague often.

  2. Marika on 31st August 2017 at 12:33 pm

    I won’t have to test! I don’t know if knowing the facts will let me enjoy life as it is. Preparing and planing financially and familial should be a concern for everyone.

  3. Marianne Talbot on 4th September 2017 at 3:18 pm

    Jess, I had no idea (but how could I have). I am amazed at your courage, and so pleased you got the result you did.

  4. Mrs VJ Smith on 29th September 2017 at 8:22 pm

    I was diagnosed with Alzheimer’s Dementia about 4 weeks back. I am 70years old but feel
    60yrs. My family had quires me for about 9 months. I have a history of it in my family. I will be going to a memory Clinic in the next few weeks and will have tablets to slow it down, I have had to have blood test and ECG, which I have now had.

  5. Ms D Marlow on 30th September 2017 at 6:43 am

    I am 53 and was told, 2 years after a brain scan, that I had mild chronic eschemic changes which will eventually lead to dementia. I already have a very bad short term memory and my Dad had Alzheimer’s. No one seems to take it seriously and friends and family just laugh it off. I would like to know more about the test.

  6. Ms Jay Johnson on 3rd October 2017 at 11:04 pm

    I would have the test if only for my partners peace of mind!
    I’ve already lost a lot of my sight in my right eye due to Glaucoma but I still asked the specialist last month “will I eventually lose what sight I have or can it be controlled with the drops I am prescribed” She said “Well that’s what we are trying to avoid” So yes it is possible but I need to know what I’m up against! I’ve been a member of A/S for some time-even before my mum passed away last year with Bullious Pemphigoid at the age of nearly 92. She had Dementia for a few years.

  7. Isabelle vasko on 17th July 2018 at 11:24 am

    Thanks for this article.
    I am 21, my mum has had fronto temporal Dementia since I was 12, but we only got an official diagnosis last year, after struggling to get doctors to listen.
    Now I am wondering whether or not to get the test. I still am unsure, but hearing stories like this help me towards making that decision.

    • Nik on 13th February 2019 at 11:12 pm

      I am the same. I am 23. My mum was officially diagnosed when she was 44 and I was 16. However symptoms started when she was in her late 30s. The last time I saw her when I was 18 she didn’t remember who I was.
      My grandmother had it as well as her mother. My mother’s sister has it as well.
      I don’t want to be like that. I am afraid I am already halfway through my life and I am wasting it by being in a mediocre job and not doing the things I want to just yet because I’ll have “time”.
      I am afraid to have children because of this as well. I don’t want them to go through what I have been.
      But I am also scared to know.

  8. Cazzie on 14th October 2018 at 6:08 pm

    I too, am considering the test as my mum has FTD at 81, my grandmother (mum’s mum) and mum’s 2 sisters have died of dementia so I would like to know the likelihood. I am 62 and so far, so good but I would rather know what the future holds regarding dementia so I can make decisions.
    Well done you for being brave enough and great that you had a good result. I admire you for all you are doing in the pursuit of a cure.
    My initial geneticist appointment is next month – I will definitely be attending.

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About the author

Jess Fleig

Jess has been passionate about raising awareness of early-onset dementias and rarer forms of dementia ever since her father was diagnosed with the familial variant of the disease in 2011. She currently works as a charity press officer and journalist in East Anglia.