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Genetic Counselling: Has anyone had a genetic test for any familial dementia?

Toughmother

Registered User
Jun 15, 2016
6
Surbiton
Hello,
I am going to be starting genetic counselling soon to find out if I carry the gene for familial Frontotemporal Dementia, which runs in my family, has anyone had expereince of genetic counselling before?

Would love to hear from you and about your journey if you would be interested? Also looking to maintain this thread for support for anyone going through similar?

I am 31 and have two children (9 and 5 yr old).

Thanks for reading.
 

cobden28

Registered User
Jan 31, 2012
442
Genetic counselling

I'm 61 and had my stroke ten years ago, followed by a series of what I was told at the time were TIA's; because of the frequency with which these episodes were occurring and the fact that I had to take 18 months off work because of it, my then GP suggested I have a special blood test to see if I carry the gene for hereditary Alzheimer's' disease. It wasn't thought likely as there's no history of stroke so far as I know on either side of my family tree but this was 'just in case'. I was quite positive at the time that IF I carried the gene then I'd want to know as soon as possible so I could prepare myself for what was likely to happen in years to come.

Apparently there's only the one hospital in the whole country that does this specialised blood testing (it's in London, I believe) so my GP took a blood sample which was sent off for testing. After a very anxious wait I was told that because of my family medical history they weren't proposing to test me any further so I presume this means I don't have the defective gene :) .

What would have happened if I were found to carry the defective gene I don't know, but I do believe in being as informed as possible which was why I would have wanted to know if anything was wrong with me - simply so that my family (my now ex-husband and then teenage daughter) would be aware of what would be likely to happen and how any disease would be likely to develop. Not everyone wants to know bad news like this, but I wanted to be prepared for any eventuality.
 

Saffie

Registered User
Mar 26, 2011
22,506
Near Southampton
I'm 61 and had my stroke ten years ago, followed by a series of what I was told at the time were TIA's; because of the frequency with which these episodes were occurring and the fact that I had to take 18 months off work because of it, my then GP suggested I have a special blood test to see if I carry the gene for hereditary Alzheimer's' disease. It wasn't thought likely as there's no history of stroke so far as I know on either side of my family tree but this was 'just in case'. I was quite positive at the time that IF I carried the gene then I'd want to know as soon as possible so I could prepare myself for what was likely to happen in years to come.

Apparently there's only the one hospital in the whole country that does this specialised blood testing (it's in London, I believe) so my GP took a blood sample which was sent off for testing. After a very anxious wait I was told that because of my family medical history they weren't proposing to test me any further so I presume this means I don't have the defective gene :) .
What would have happened if I were found to carry the defective gene I don't know, but I do believe in being as informed as possible which was why I would have wanted to know if anything was wrong with me - simply so that my family (my now ex-husband and then teenage daughter) would be aware of what would be likely to happen and how any disease would be likely to develop. Not everyone wants to know bad news like this, but I wanted to be prepared for any eventuality.
I confess I am a bit confused as to why your GP suggested you take this test to see if you carry the gene for hereditary Alzheimer's as, as far as I am aware, strokes and TIAs can lead to Vascular dementia rather than Alzheimer's disease. Good that they found nothing though.
 

JigJog

Registered User
Nov 6, 2013
237
Hello,
I am going to be starting genetic counselling soon to find out if I carry the gene for familial Frontotemporal Dementia, which runs in my family, has anyone had expereince of genetic counselling before?

Would love to hear from you and about your journey if you would be interested? Also looking to maintain this thread for support for anyone going through similar?

I am 31 and have two children (9 and 5 yr old).

Thanks for reading.
I was reading an article about this recently. It said that the results of genetic testing may have to be declared on insurance and mortgage applications and could make it more difficult/more expensive to get both. I hadn't considered this aspect. Certainly the younger adults in the article decided to wait until after they were through the 'child rearing' stage before they proceeded with this. Their father had FTD.

Worth more investigation.
 

Kevinl

Registered User
Aug 24, 2013
4,771
Salford
If I was offered the test I don't think I'd want to take it, I'd have to live the rest of my life with the sword of Dementiaclese hanging over me.
We're all at risk of getting AZ and a family link can elevate the risk but having the faulty gene doesn't mean you will get AZ and not having the gene doesn't prove you wont get AZ anyway there's a hundred things out there that may get you before AZ.
There are some things I would get tested for like the breast cancer gene (not me personally being a bloke) but I can see why that makes sense as you can be vigilant and so get treatment earlier, the big one is blood pressure, heart disease and strokes are major killers but how many of us regularly get their BP checked?
I wish you well but it's not for me I'm afraid.
K
 

cobden28

Registered User
Jan 31, 2012
442
If I was offered the test I don't think I'd want to take it, I'd have to live the rest of my life with the sword of Dementiaclese hanging over me.
We're all at risk of getting AZ and a family link can elevate the risk but having the faulty gene doesn't mean you will get AZ and not having the gene doesn't prove you wont get AZ anyway there's a hundred things out there that may get you before AZ.
There are some things I would get tested for like the breast cancer gene (not me personally being a bloke) but I can see why that makes sense as you can be vigilant and so get treatment earlier, the big one is blood pressure, heart disease and strokes are major killers but how many of us regularly get their BP checked?
I wish you well but it's not for me I'm afraid.
K

Re breast cancer in men - it's rare although not unknown. My maternal great-grandfather died of breast cancer - I ve seen a copy of the death certificate.
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi toughmother. I'm in the same boat as you, my mother died of ftd at the age of 60 nine years ago but because her mother died when she was 2yrs old and her father went to Australia she was adopted so we didn't have any history but my eldest sister whom is 48 has been showing signs of it for 3 years now and is in the process of getting diagnosed so it must be the hereditary type. I'm 43 and have 2 children aged 7 and 5 and that is for me my main worry, that they will realise at a very young age about the threat of this terrible disease. I was 35 when I knew about the threat, I can't imagine how they will deal with it if I also carry it. I'm definitely in for getting tested though and live in hope that I don't carry the faulty gene.
 

Toughmother

Registered User
Jun 15, 2016
6
Surbiton
Thanks for everyone who has replied,

I know that the type of early onset familial frontotemporal dementia my dad has, can be assessed with a genetic test. If I carry the gene, there is a 100% chance I will develop symptoms and if I don't carry the gene then I won't have inherited the faulty gene nor will I be passing it on to my children.

@welshpack - I understand your situation, I think you are most in common with me - I am sorry to hear abuot your family situation, however it is always reassuring to hear that I am not the only one worrying about it - although I have great friends, people who have lived it can only really understand.

Do you know which type of FTD your mother had?

There is a process of talking with children about hereditary diseases and thankfully I have met some people through the 'rare dementia support group' at UCL who can offer support, ideas and experience of talking with children. I believe it is a gradual and has to be age appropriate approach - not putting a date on when you will "tell them" as they may find it difficult to trust you afterwards if they feel you have been "hiding things from them". I know I have felt my mum hasn't always been open with me, throughout my life and I am determined not to be like that with my children!

Are you going to be referred for Genetic counselling soon? or has the process started, I think it can take quite a long time.

Also, being involved with GENFI (genetic frontotemporal dementia initiative) at UCL (dementia research centre) gives me a lot of hope for them to develop preventative drugs and hoepfully one day a cure, you can be involved with that if you have a familial ftd in your family (whether you have the gene or not). This also helps me feel I am helping society find a cure for this horrible disease.

@Kevinl - I understand your point about the sword of dementiaclese, as you can see above, my family have a specific type of familial dementia - not just AZ, but in my head, I would prefer to know so I can make plans either way - before I become ill and have to have the added stress of dealing with power of attorneys, end of life plans etc.

I think eating healthy and exercising is always a good way to continue being healthy - giving your body the best opportunity! I am quite a positive person and won't let it ruin my life, in fact, probably the opposite, it will give me a kick to achieve and plan things which perhaps I wouldn't do if I was just plodding along in life.


Thanks for sharing your story cobden28, glad to hear you have not got a gene for familial AD.

Look forward to hearing more stories and journeys! Thank you x
 

Toughmother

Registered User
Jun 15, 2016
6
Surbiton
I was reading an article about this recently. It said that the results of genetic testing may have to be declared on insurance and mortgage applications and could make it more difficult/more expensive to get both. I hadn't considered this aspect. Certainly the younger adults in the article decided to wait until after they were through the 'child rearing' stage before they proceeded with this. Their father had FTD.

Worth more investigation.
Thanks for the tip on the article jigjog, I have got life insurance, which covers me in the event of a disease and sadly (but accepting) nowhere near buying my first house - stuck in the rental market in London really sucks! - I got info from the great people at UCL before going ahead with life insurance, they were really helpful.
Thanks for the advice, I apppreciate it.
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi again toughmother, It's now that my sister is being seen to be properly diagnosed, it's a tough situation to be in as far as families are concerned, I couldn't pressurise her husband and children to make the move earlier, it had to be left to them. We're from North Wales but we will be reffered to Manchester Hospital as they dealt with my mother. I was told that my mother had picks disease but I contacted them a few months ago and they said it wasn't typical pick bodies? So I'm still not sure what type she had. I'm glad my sister is in the process now though so I can get some answers. I want to get tested to prepare for the future as worrying about it can make you more crazy. Nice to talk to you xx
 
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Toughmother

Registered User
Jun 15, 2016
6
Surbiton
Hi again toughmother, It's now that my sister is being seen to be properly diagnosed, it's a tough situation to be in as far as families are concerned, I couldn't pressurise her husband and children to make the move earlier, it had to be left to them. We're from North Wales but we will be reffered to Manchester Hospital as they dealt with my mother. I was told that my mother had picks disease but I contacted them a few months ago and they said it wasn't typical pick bodies? So I'm still not sure what type she had. I'm glad my sister is in the process now though so I can get some answers. I want to get tested to prepare for the future as worrying about it can make you more crazy. Nice to talk to you xx
It sounds like your sister is having a tough time and her family too, I wouldn't wish that on anyone, and ofcourse it is a very personal decision. Sounds like she is in good hands, going to Manchester though, stay in touch! xx

P.s. great result for Wales last night :)
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
It sounds like your sister is having a tough time and her family too, I wouldn't wish that on anyone, and ofcourse it is a very personal decision. Sounds like she is in good hands, going to Manchester though, stay in touch! xx

P.s. great result for Wales last night :)
Hi,yes I'm personally glad that things are moving ahead now because I know there is no cure for it but there are things that can help the personality changes etc apparently. Yes it was a good result yesterday let's hope we can win a few more and have a cracking final against England :) x
 

rizzlevix

Registered User
Jul 28, 2016
2
timeline on genetic testing & counselling?

Hi everyone, I was just wondering if anyone had completed the genetic testing process and had any ideas on how long it might take?
My dad has just been diagnosed with FTD and there is not much of a family history as his dad was misdiagnosed as having TIA prior to his death and his grandad died in ww1. This means we only have genetic tests to go on, so his blood sample has been sent off this week. I know it can take 3-4 months for his results to come back, which will tell us if it is familial, but then I would need to undergo genetic counselling and then testing. As bad as all this is, I already have a genetic condition that any children of mine have a 50/50 chance of inheriting, so I would ideally like to know if I would be landing them with a double whammy before having any! The icing on the cake being I am 37 soon and so there is something of a clock on this...It's bad enough watching my dad disappear in front of me, the idea he wouldn't either realise if he finally got a grandchild or worse, wasn't here to meet them, kills me...so, I guess knowing a timeline might make this decision easier to make?
 

Jaybird

Registered User
Jul 25, 2016
29
26
North Carolina, USA
I was also wondering about how long the testing would take. Knowing my dad has dementia and my grandfather has dementia and hearing my great-grandfather had dementia (I heard from my grandfather, but after he had been diagnosed with dementia, hence why I'm not sure if I believe him) I've pretty much decided that I want to take the test. I'm still too young to worry about it now but if I am at higher risk, I feel I should be as prepared as possible and that should I ever meet that special someone I would like to warn them so they can also be prepared. I also think my mind would be more at peace on the issue if I knew the answer.

I try to just tell myself that it's because of of the heavy drinking that also runs in my father's side of the family, but it'd still be better to know for sure.

I hope your test goes smoothly and that you get a good result from it.
 

Toughmother

Registered User
Jun 15, 2016
6
Surbiton
Hello to the new posters, thanks for sharing your stories.
I hope this helps a bit...
So I've begun the process of genetic counselling. Here is an idea of time frames - I am sure it depends on your location and perhaps even your familial circumstances but here is my experience so far. I am in London and have two children (I am 31, kids are 9&5). I had an appointment with my dad's consultant in January and then got my life insurance sorted. In June I got in contact with the consultant again and asked to begin the process, I have been offered my first appointment in November. This will be a 20-30minute consultation with a genetics dr. Then I will be given 3-4 mths rest/thinking time to make my decision, following that, I would then have another appointment to take a sample (not sure if blood or lumbar puncture). Then a few months after that have another appointment to get the results (if I wish to go ahead.)

Personally I do not want any more children and am "lucky" to have done that already, however I know that they can offer a gene removal in utero (please forgive my non medical terminology!) which would remove potentially faulty gene (of course with risks but may be something of interest if you are thinking of conceiving.)

Whatever you chose and like many aspects of FTD (and indeed other familial dementias) a lot of it is very individual so I can't only comment on my experience so far. Perhaps if you push hard enough you may be able to be seen quicker?
I hope I've been of some help.
Best wishes x
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi again Toughmother, We've just been told that the FTD type my mother had was MAPT 10+16 Mutation but they're going to re test it. I think there's about 9 families in the UK with it.
 

Onlyme

Registered User
Apr 5, 2010
4,995
UK
You say your mother was adopted. I assume due to the rare nature of her condition they will link you to one of these nine families.

I watch all the money spent on the Olympics and think of the good it would have done used to help medical research. I know people enjoy it but it doesn't stop me feeling our priorities are messed up.
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi, yes 9 families in the UK...... But the father went to Australia apparently, my sister is waiting to be referred to Manchester so then I can get more knowledge off them as to who he was and maybe if he was Welsh then his surname would be easier to trace if he also had more children there carrying this gene.
 

LizK

Registered User
Dec 18, 2015
124
Surrey
My son, aged 46 took the DNA test as his father has Alzheimer's, as did his father and his maternal uncle and grandmother. It came back positive to late onset Alzheimer's.

Liz
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Thank you Liz, does that test say he's 100% going to get it or that he has a high chance of getting it, I know with early onset dementia that you have a 50% chance of getting the gene but if you have the gene then you're 100% getting the illness. All the best to you.