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

LizK

Registered User
Dec 18, 2015
124
Surrey
I don't know is the answer and neither do the professionals, which is why I advised him not to take the test. Now it's on his mind all the time.

Liz
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Yes I can imagine Liz it's always on my mind too but by the time it would affect him over 20+ years hopefully they will of found a way to halt or slow it down even further than they medically can now.
 

mumbasi

Registered User
Sep 1, 2013
106
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.
I think of all the wasted money spent on wars and it makes me sad.
 

emmis

New member
Feb 14, 2018
1
Hi, I can see the thread is rather old, but I am currently about to make a decision on whether or not to be tested for FTD. I have been considering it since we got my mother's test results, but since I suddenly (not planned) got pregnant, a sense of urgency has evolved. Given the thread is a bit old, maybe some of you have been through the testing and can give some feedback on how to cope with the result - no matter if it is good or bad. I'm quite scared of how it would affect me if it turns out, that I carry the same mutation as my mother. Her illness is progressing very fast, but it was not diagnosed until quite recently, so I am also dealing with the sorrow of losing my mother to a person I do not know. I wish I could discuss this with her, but she is already completely distant and even though I have great close friends and a supporting partner, I feel all alone.

So, if anyone can share some experience with actually receiving a test result - and also reactions from close friends and family - I would be very thankful.
 

hyacynth

Registered User
Dec 31, 2015
1
Hi Im new on here. My husband has FTD and was tested with a negative result. That was a huge relief to him and it is good to be able to say that to our children. Without the information gained by testing our future choices cant be informed ones. Our daughter happens to have a genetic disorder that she has 50/50 chance of passing on. If she was to plan a family the genetic knowledge would be vital to her choices. It felt easier to me to bury my head and hope for the best but it is a short term solution and they only long term one, in my opinion, is ti be tested. At best you are in the clear. At worst if you or your children ever develop symptoms you will have the cause identified a lot quicker and have access to the current treatments and advancements. That could make such a difference to you and your carers. I feel it's a win win really.
I say all that but at the same time its terrifying and worrying and scary. I hope you make the right choice for you. And all the best to you and your mum.
 

yellowrose

New member
Feb 18, 2018
7
Hi,

Im new here. I have been looking for somewhere with people who are in the same situation as me. My dad has was diagnosed at the beginning of last year with FTD due to a mutation of the c9orf72 gene aged 57. My grandma, dad's mum died at 59 of FTD & ALS and my dad's cousin died last year aged 54 from ALS.

After undergoing the genetic counselling, I had the test done. I am due to get the results at the end of month .

I'm 33 and have 2 children.

If anyone is it the same position or similar situation, it would be really good to talk.

My sister, dad and myself also attended GENFI at ucl last year.

Leanne x
 

Rosey1977

Registered User
May 21, 2015
1
Twickenham
Hi, I can see the thread is rather old, but I am currently about to make a decision on whether or not to be tested for FTD. I have been considering it since we got my mother's test results, but since I suddenly (not planned) got pregnant, a sense of urgency has evolved. Given the thread is a bit old, maybe some of you have been through the testing and can give some feedback on how to cope with the result - no matter if it is good or bad. I'm quite scared of how it would affect me if it turns out, that I carry the same mutation as my mother. Her illness is progressing very fast, but it was not diagnosed until quite recently, so I am also dealing with the sorrow of losing my mother to a person I do not know. I wish I could discuss this with her, but she is already completely distant and even though I have great close friends and a supporting partner, I feel all alone.

So, if anyone can share some experience with actually receiving a test result - and also reactions from close friends and family - I would be very thankful.

Hi, I got tested for C9orf72 gene mutation last year. Thankfully my result was negative, I don’t have the mutation, and so I can’t have passed it on to my 2 children. It was probably the toughest and most frightening thing I have ever been through, but I’m glad I did it. My brother had the test very recently, and he has got the the gene mutation. I don’t think my brothers news has sank in yet, but I do feel very guilty and desperately sad. My brother so far seems to have taken it in his stride, and says he’s just relieved to know for sure that he has it. I’m sorry you are going through this.
 

yellowrose

New member
Feb 18, 2018
7
I get my results in 6 days and I'm absolutely petrified. I think I'm more worried about how I'll cope if I get told I have the mutation. I'm the oldest of 4. My sister is 30 and just had her 1st appointment with the genetic counsellor and my brother who is 19 has too. My youngest brother is only 17, so can't even consider yet. I know that whatever my result, it will also have a massive impact on them too.
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi everyone, I got my results on the 6th of March and I carry the faulty gene ☹, but now I will be involved in trials to find a cure for this terrible illness.
 

Raggedrobin

Registered User
Jan 20, 2014
1,427
I'm so sorry Welshblack, but I think you are wise to know, wise to be able to prepare over time and we can also all be grateful that you are willing to participate in trials that may benefit many people.

I have been reading this thread with great interest and thanks those of you going through this who have been brave enough to discuss it on here.
 

Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Thank you all for your comments, I just worry about my children they'll know at a very young age, I hope we'll find a cure for it pretty soon
 

Kimides

New member
Mar 21, 2018
1
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
I bought a fitbit to monitor my heart. Now I have it I don't know what to do with the recordings, I'm not a doctor and don't know if anything on it is normal.
 

crazyerduck

Registered User
Jan 3, 2019
22
Hi all, I know this thread is now over a year old but in a similar situation my dad has been diagnosed with behavioural variant FTD and has the C9orf72 gene mutation. I've started genetic counselling (more as someone else said discussing the pros and cons) and I soon have my next meeting where I should decide where I do want to take the test to find out if I carry the gene mutation, I know I can push back the meeting but I'm soon to be married and we want kids so the knowledge will help us plan our future, particularly as I wouldn't want to pass on the mutation if I had it. There are lots of pros in my eyes, as on top of the above, it will help me decide how I spend the next 10/20 years and make me reevaluate things, and if there are any studies coming up I'd be on the studies where possible. I'm concerned about the cons though, that I don't know enough about them, apart from the obvious having to deal with the knowledge mentally, I know there is currently a moratorium in place re: insurance companies asking you whether you've had genetic testing, but the counsellor couldn't say whether it would affect mortgages and would need to discuss with a solicitor when we wanted to sell / buy / renew our mortgage. We are definitely not in our forever home at the moment. Does anyone have any experience of having the gene mutation?
 
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Welshblack

Registered User
Aug 9, 2015
26
Anglesey
Hi all, I know this thread is now over a year old but in a similar situation my dad has been diagnosed with behavioural variant FTD and has the C9orf72 gene mutation. I've started genetic counselling (more as someone else said discussing the pros and cons) and I soon have my next meeting where I should decide where I do want to take the test to find out if I carry the gene mutation, I know I can push back the meeting but I'm soon to be married and we want kids so the knowledge will help us plan our future, particularly as I wouldn't want to pass on the mutation if I had it. There are lots of pros in my eyes, as on top of the above, it will help me decide how I spend the next 10/20 years and make me reevaluate things, and if there are any studies coming up I'd be on the studies where possible. I'm concerned about the cons though, that I don't know enough about them, apart from the obvious having to deal with the knowledge mentally, I know there is currently a moratorium in place re: insurance companies asking you whether you've had genetic testing, but the counsellor couldn't say whether it would affect mortgages and would need to discuss with a solicitor when we wanted to sell / buy / renew our mortgage. We are definitely not in our forever home at the moment. Does anyone have any experience of having the gene mutation?
Hi, I'm very sorry you're going through this, I had a genetic test and I carry the mapt 10+16 gene and all I do is worry about my children 's future, but hopefully in 30 years there will be a cure for it. I'm 46 years old and my children are 10 and 6 years old. I went for the test because I'm near the age of onset, if I was younger I don't think I'd want to know. But since about 5 years now they are able to take it out of the embryo so your child wouldn't have it and they can do it without you having to know if you carry the faulty gene, if this would of been available before I had children it would of been a massive relief. I have been told it can affect things with insurance and mortgages also. The genetic counselling usually advice you about this.
 

crazyerduck

Registered User
Jan 3, 2019
22
Hi @Muggles and @Welshblack thank you so much for your answers - I'm so sorry to hear you have the genes, but your answers have helped me be more positive about it. I didn't know you could ask for it not to be on your medical record - is that because you had the test done at UCL rather than within the NHS and will they tell you the result they just won't store it on the medical record? How did you both get involved with UCL? Someone has forwarded my details to a Dr Jon Rorher and hopefully I'll get to have a chat with his team before I make any decisions on the test, I believe he might be at UCL actually.

@Welshblack I haven't actually found the genetic counselling very informative about the negative implications of a positive result, they told me essentially there is a moratorium in place (currently until end of 2019 but is normally extended every couple of years or so) on insurance companies that they could not ask you outright about whether you had a genetic test (as long as the amount covered was below a certain amount) but that I should get whatever insurance I wanted before, as although they can't ask me, there is a section where you can disclose information, so it might fall back on me if I didn't disclose it voluntarily when buying the product, and for mortgages they said I'd need to speak to the solicitor at the time to get advice.

Have either of you had reason to regret having the test (apart from obviously knowing!), such as being treated differently for financial loans etc?

Thank you both x
 

crazyerduck

Registered User
Jan 3, 2019
22
Thanks a lot Muggles, all that info really helps! I'm going up to a support group in London next week so I'll ask the dementia adviser who referred me whether she's had any news as to how long it will take for me to get a meeting set up. My next genetic counselling appointment is soon but based on all your info I think I'm definitely better off putting off the decision and having the meeting at UCL first. Thanks so much!
 

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