Being tested for early-onset of Alzheimer's in your 30s
Discussion
A long story short is that my mum, having been diagnosed with Alzheimer's in her early 50s and now at the age of 63, has rapidly deteriorated since the start of the year. Unfortunately her needs were so great that despite high levels of care within her own home it was no longer viable that she stayed there and in January of this year she went into a care home.
The home banned visits even at a window of the home from March onwards so we've not been able to see her at all. I am sure this has played a large part in her deteriorating so quickly and to the extent that she is now been sectioned and in hospital, as the home could no longer care for her. Not taking on food, drink and medication has been the cause of the Section.
Anyhow, I now understand via a message from another family member the hospital consultant has suggested it might be an idea that a genetics test is carried out on my mum, and then on family members, to assess whether we've inherited a faulty gene - any 1 of 3 genes - which is known to cause early onset of dementia.
I'm in my mid 30s, no family, and nobody to share the angst and major anxiety this has now caused on top of what is already an awful situation.
I cannot make sense of what I'm reading in terms of likelihood of developing the disease:
"Can I inherit early-onset Alzheimer’s? In most cases the answer is no. Inherited or ‘familial’ forms of Alzheimer’s are very rare. Several genes have been found that play a role in the development of familial Alzheimer’s. Mistakes in these genes (called mutations) can cause the build-up of a toxic protein called amyloid in the brain.If someone has a strong family history of Alzheimer’s at a young age, a doctor may suggest genetic testing to close relatives and refer them on for genetic counselling. For more information, ask for our booklet ‘Genes and dementia’.In the vast majority of cases, the cause is still unclear. It is likely to be a combination of our lifestyle and genetic factors."
"...A very small number of early-onset Alzheimer’s cases are caused by a faulty gene passed down in families. This can be called ‘familial’ or ‘early-onset inherited’ Alzheimer’s."
"...This form of the disease is known as early-onset familial Alzheimer's disease (eFAD). If one of your parents has an eFAD mutation, you have a 50% chance of inheriting the gene and going on to develop the disease. Only 5% of Alzheimer's cases are caused by a gene mutation, making eFAD a rare disease."
If I'm reading this correctly, there's only a 1 in 95 chance my mum's Alzheimer's is caused by a genetic mutation and much likely by other (unknown) factors. And if the cause were to be a genetic mutation then I've a 50% chance of having the same mutation which, from what I've read, means 99.5% chance of Alzheimers by the age of 50.
Apologies for what possibly comes across as a self-centred and selfish post. But any help would be appreciated.
The home banned visits even at a window of the home from March onwards so we've not been able to see her at all. I am sure this has played a large part in her deteriorating so quickly and to the extent that she is now been sectioned and in hospital, as the home could no longer care for her. Not taking on food, drink and medication has been the cause of the Section.
Anyhow, I now understand via a message from another family member the hospital consultant has suggested it might be an idea that a genetics test is carried out on my mum, and then on family members, to assess whether we've inherited a faulty gene - any 1 of 3 genes - which is known to cause early onset of dementia.
I'm in my mid 30s, no family, and nobody to share the angst and major anxiety this has now caused on top of what is already an awful situation.
I cannot make sense of what I'm reading in terms of likelihood of developing the disease:
"Can I inherit early-onset Alzheimer’s? In most cases the answer is no. Inherited or ‘familial’ forms of Alzheimer’s are very rare. Several genes have been found that play a role in the development of familial Alzheimer’s. Mistakes in these genes (called mutations) can cause the build-up of a toxic protein called amyloid in the brain.If someone has a strong family history of Alzheimer’s at a young age, a doctor may suggest genetic testing to close relatives and refer them on for genetic counselling. For more information, ask for our booklet ‘Genes and dementia’.In the vast majority of cases, the cause is still unclear. It is likely to be a combination of our lifestyle and genetic factors."
"...A very small number of early-onset Alzheimer’s cases are caused by a faulty gene passed down in families. This can be called ‘familial’ or ‘early-onset inherited’ Alzheimer’s."
"...This form of the disease is known as early-onset familial Alzheimer's disease (eFAD). If one of your parents has an eFAD mutation, you have a 50% chance of inheriting the gene and going on to develop the disease. Only 5% of Alzheimer's cases are caused by a gene mutation, making eFAD a rare disease."
If I'm reading this correctly, there's only a 1 in 95 chance my mum's Alzheimer's is caused by a genetic mutation and much likely by other (unknown) factors. And if the cause were to be a genetic mutation then I've a 50% chance of having the same mutation which, from what I've read, means 99.5% chance of Alzheimers by the age of 50.
Apologies for what possibly comes across as a self-centred and selfish post. But any help would be appreciated.
Pinkie15 said:
Note 5% = 1 in 20
Or a 19 in 20 chance it's not genetic
But that's AD patients, not the general populace.
Do you know if other maternal relatives had any problems?
Thanks for the reply. Now I'm more worried about how badly I worked out the percentage chance!Or a 19 in 20 chance it's not genetic
But that's AD patients, not the general populace.
Do you know if other maternal relatives had any problems?
There's never been any history of the disease, early onset or otherwise, in the family on either of my parent's sides. Which from what I've read means the cause in my mum's case is not likely to be genetic either.
Still undecided as to whether I want the test doing myself though. It'd feel like a death sentence if the result of my mum's test was a genetic cause, and I was found to have the same gene (50% chance). I think I'd probably rather not know.
Yeah, tough choice to make.
On plus side if there's no family history massively reduces the chances of it being famillial
Do they offer any counselling prior to having to make the decision about being tested?
Also some companies are making progress in developing more effective treatments, though a whole raft fell by the wayside in the last year, or so.
On plus side if there's no family history massively reduces the chances of it being famillial
Do they offer any counselling prior to having to make the decision about being tested?
Also some companies are making progress in developing more effective treatments, though a whole raft fell by the wayside in the last year, or so.
My brother's going ahead with the testing. He's a daughter so understandably wants to know if he has the faulty gene too.
The odds are in our favour, as you say. The consultant has mentioned that we'd see a counsellor if we wanted to press on. I think we'll go ahead with mum's test, and should that prove positive, take things from there when it's 50/50 in terms of inheriting it.
The odds are in our favour, as you say. The consultant has mentioned that we'd see a counsellor if we wanted to press on. I think we'll go ahead with mum's test, and should that prove positive, take things from there when it's 50/50 in terms of inheriting it.
Sad situation. 
If you/mum/family get tested though and are found to be carrying said gene or whatever will/might it screw you/them up for various insurances later?
Is it it better from a financial etc standpoint to be none the wiser if it has not been officially diagnosed/confirmed.
I don't know the answer, just asking the question..
If you/mum/family get tested though and are found to be carrying said gene or whatever will/might it screw you/them up for various insurances later?
Is it it better from a financial etc standpoint to be none the wiser if it has not been officially diagnosed/confirmed.
I don't know the answer, just asking the question..
Early onset alzheimer's is your worst nightmare come true. One of the guy's in a local village pub I call into is caring for his wife with early onset, she was extremely articulate and had to leave work as a head teacher. Used to have a chat with her and it was hard to tell she had it on 1st acquaintance, but she has deteriorated.
Hard to know what its happening now as he has had to stop work to care for her, and I haven't seen him since about February as the pub isn't suitable for social distancing.
As to testing, hard one to know, Huntington's chorea is about the nearest comparison disease and I think I'd want to know, as I'd want to live my best life & not put things off (save money) if it was to be shortened.
Hard to know what its happening now as he has had to stop work to care for her, and I haven't seen him since about February as the pub isn't suitable for social distancing.
As to testing, hard one to know, Huntington's chorea is about the nearest comparison disease and I think I'd want to know, as I'd want to live my best life & not put things off (save money) if it was to be shortened.
My wife was diagnosed with early onset Dementia age 59 in 2014 and i had to come home from working overseas to care for her, i took care of her for 2.5 years and she declined so quick that things got extremely difficult for me, even though i was getting some support from the LA. In the end i had to commit her under the mental health act. The worst day of my life came when the black ambulance and 4 burly guys came to take her to the local mental unit.
She had been Chair of the School Governors, Chair of the local planning committee, a PA to a local business womand and got herself involved it all kinds of childrens charities, she was articulate and never ever did i hear her swear.
That day was horrific, i did my best not to show how upset i was when they helped her into the back of that ambulance, as it drove up the road i sobbed my f
king heart out like ive never cried before, in fact its bringing it all back now.
She spent 10 weeks in hospital being assessed then my sons and I found her a really nice care home, she is still in there now but she declines every few months and loses another activity, she doesnt know my name, she doesnt know who i am, i am learning to live with a broken heart and it hurts like fk. I have days that are good, i have days that are bad, and when theyre bad theyre relly bad but im sure theyre nowhere as bad as what she is going through. Its something i do not wish on anyone, once youve seen you loved one go through this and my three sons who adored their mum are devastated and still dont understand why her?
None of my wifes family, siblings or parents suffered with anything like this, not too sure about the hereditary bit though.
If anyone wants to talk about anything Dementia related, i might be able to help you as ive been there and done that, just drop me an email and we chat if you want.
She had been Chair of the School Governors, Chair of the local planning committee, a PA to a local business womand and got herself involved it all kinds of childrens charities, she was articulate and never ever did i hear her swear.
That day was horrific, i did my best not to show how upset i was when they helped her into the back of that ambulance, as it drove up the road i sobbed my f
king heart out like ive never cried before, in fact its bringing it all back now.She spent 10 weeks in hospital being assessed then my sons and I found her a really nice care home, she is still in there now but she declines every few months and loses another activity, she doesnt know my name, she doesnt know who i am, i am learning to live with a broken heart and it hurts like f
k. I have days that are good, i have days that are bad, and when theyre bad theyre relly bad but im sure theyre nowhere as bad as what she is going through. Its something i do not wish on anyone, once youve seen you loved one go through this and my three sons who adored their mum are devastated and still dont understand why her?None of my wifes family, siblings or parents suffered with anything like this, not too sure about the hereditary bit though.
If anyone wants to talk about anything Dementia related, i might be able to help you as ive been there and done that, just drop me an email and we chat if you want.
Thanks for the replies. Appreciated.
I don't have critical illness insurance cover. I've looked in the past at taking it out and results vary from outright refusal through to no issue at all, albeit with mental degenerative mental disorders/incapacity cover often specifically excluded. I declared mum's Alzheimer's when getting the quotes so it's no surprise. The important thing to get covered is the loss of independence or words to that effect - I can't quite remember the term that's used specifically but can look it up should anyone need it.
From a financial perspective, and judging from my own experience only, it all depends on your own viewpoint. If you've no assets, fixed or otherwise, then essentially the state picks up the tab in full. If you do have assets, including your home, then its worth is taken into account during financial assessments and when it comes to needing full time care which is obviously very costly, the gap between the full cost and benefits will have to be met through realising these assets.
So your choices are to run down your assets and sell your home. Or, as we've done, taken out a deferred payment against mum's home with the local authority. Once mum passes on then the house must be put up for sale and what's owed paid back once sold.
So on the face of it, financial prudence doesn't really count in your favour. Except that it does...
We visited thirteen different care homes before we chose the one we thought best. They ranged from harrowing through to as good as you could ever hope for. As you'd expect, the better ones are more expensive. Nicer furniture and carpets doesn't qualify as better as far as I'm concerned. Instead, we asked a lot of questions over what goes on in terms of activities and keeping residents active and occupied as best possible. Some homes clearly didn't do much, maybe a yearly outing or two at best - potentially limited by funding etc or perhaps just maximising profits - but the one we picked had a full-time activities co-ordinator who organised activities every weekend morning and afternoon. I felt awful for the residents in the former mentioned homes.
The home we chose attracted a 'top up' fee. Essentially there was further gap between what the state would pay as a maximum and the actual cost. This was an additional £165 per week on top of the contribution we'd have to make towards the £530 per week maximum contribution from the authority, with this contribution being based on fixed and liquid assets. For clarity, £530 is what the authority would pay out based on you having no assets whatsoever. Mum did, so didn't qualify for the full £530 and the gap was met through deferring payment against her home. Plus the additional top up fee in addition to this.
So this is where having some form of asset does help and opposes the view of 'spend the lot'. Having those assets allowed us to place mum in the best home possible. It afforded choices that couldn't have been entertained otherwise.
I have said from day one, even putting it into writing, that I have absolutely no interest in benefitting from inheritence. I'm not super wealthy but I do OK, and I don't mean dismissing potential inheritence to come across as me being ungrateful or disrespectful. I have shared financial power of attorney with my brother. I would never constent to any decision other than one that was as though mum would have made had she the capacity to do so. Anything else is absolute abuse and unforgiveable. My idea has been to run the assets down the point there's nothing left.
I am sorry to read of the experience of others. It's hard to admit that in the early days post diagnosis, and we're talking 7 years ago, that I was selfish. Life appeared to go on as normal for mum. She appeared her usual self. Happy, outgoing, social, going on holidays etc and even in a relationship. I was often wrapped up with work or whatever else. I don't live locally to mum and often found it had been me in the past being the first to make phone calls home etc. We lost touch for a while and didn't see one another for maybe a year or so. It's time I'll not get back but over the last few years I've done my best to make up for this but it does not excuse it. I could have done more to understand.
I can relate to how you must have felt with the sectioning. I took my mum to live at the carehome one morning in early January this year. I stayed with her the night before. Even if I'd have tried to explain to her that we'd found a place for her in a home it would never have been understood by her. Verbal reasoning capacity etc was limited to say the least. I will never forget the journey to the carehome or the look in her eyes or face as we pulled up outside with a car full of her possessions. Mum recognised the home from a former visit and knew what was about to happen.
It felt like I can only describe as a betreyal. Almost as though I was taking a well-loved family dog to the vet to be put to sleep when it thought it was heading off in the car for a day out nonethewiser. This and the lost time, and perhaps some impatience on occasions since, is something I'm struggling to come to terms with and probably deservedly so.
Covid-19 meant that not long after mum going into the home all visitations have been banned for most of the year. Even visits at the window. At first we were allowed door step / window visits but these were stopped too. Another harrowing memory is her trying to signal me into the home when stood at the doorstep, getting very confused as to why I couldn't come in, then distressed as the care workers had to take her away from the door. Ten months on and the deterioration has been massive both physically and mentally and I suspect the cut off from family and friends has been a major part in this.
I'm now left questioning whether more could have been done in keeping mum in her own home for longer and all this could have been avoided. But I think not and that's not just me trying to salve my conscience. Having support workers visit four times a day was not sustainable as she lived on her own. This wasn't compassionate care, more just people to quickly make a sandwich or soup etc or a quick shower, then be on their way. Mum needed more than just her dinner making and leaving her alone even for a short while wasn't right. Full time care was really the only option, I think.
There's been lots of ups and downs with the home itself too. I do think they've failed her in some ways too and this led to the sectioning.
At least the feedback from the hospital in the week mum's been there is very positive so far. Certainly much better than we expected.
Likewise, should anyone want to get in touch or feel like I can offer any advice then please send me a private message.
Thanks for listening.
I don't have critical illness insurance cover. I've looked in the past at taking it out and results vary from outright refusal through to no issue at all, albeit with mental degenerative mental disorders/incapacity cover often specifically excluded. I declared mum's Alzheimer's when getting the quotes so it's no surprise. The important thing to get covered is the loss of independence or words to that effect - I can't quite remember the term that's used specifically but can look it up should anyone need it.
From a financial perspective, and judging from my own experience only, it all depends on your own viewpoint. If you've no assets, fixed or otherwise, then essentially the state picks up the tab in full. If you do have assets, including your home, then its worth is taken into account during financial assessments and when it comes to needing full time care which is obviously very costly, the gap between the full cost and benefits will have to be met through realising these assets.
So your choices are to run down your assets and sell your home. Or, as we've done, taken out a deferred payment against mum's home with the local authority. Once mum passes on then the house must be put up for sale and what's owed paid back once sold.
So on the face of it, financial prudence doesn't really count in your favour. Except that it does...
We visited thirteen different care homes before we chose the one we thought best. They ranged from harrowing through to as good as you could ever hope for. As you'd expect, the better ones are more expensive. Nicer furniture and carpets doesn't qualify as better as far as I'm concerned. Instead, we asked a lot of questions over what goes on in terms of activities and keeping residents active and occupied as best possible. Some homes clearly didn't do much, maybe a yearly outing or two at best - potentially limited by funding etc or perhaps just maximising profits - but the one we picked had a full-time activities co-ordinator who organised activities every weekend morning and afternoon. I felt awful for the residents in the former mentioned homes.
The home we chose attracted a 'top up' fee. Essentially there was further gap between what the state would pay as a maximum and the actual cost. This was an additional £165 per week on top of the contribution we'd have to make towards the £530 per week maximum contribution from the authority, with this contribution being based on fixed and liquid assets. For clarity, £530 is what the authority would pay out based on you having no assets whatsoever. Mum did, so didn't qualify for the full £530 and the gap was met through deferring payment against her home. Plus the additional top up fee in addition to this.
So this is where having some form of asset does help and opposes the view of 'spend the lot'. Having those assets allowed us to place mum in the best home possible. It afforded choices that couldn't have been entertained otherwise.
I have said from day one, even putting it into writing, that I have absolutely no interest in benefitting from inheritence. I'm not super wealthy but I do OK, and I don't mean dismissing potential inheritence to come across as me being ungrateful or disrespectful. I have shared financial power of attorney with my brother. I would never constent to any decision other than one that was as though mum would have made had she the capacity to do so. Anything else is absolute abuse and unforgiveable. My idea has been to run the assets down the point there's nothing left.
I am sorry to read of the experience of others. It's hard to admit that in the early days post diagnosis, and we're talking 7 years ago, that I was selfish. Life appeared to go on as normal for mum. She appeared her usual self. Happy, outgoing, social, going on holidays etc and even in a relationship. I was often wrapped up with work or whatever else. I don't live locally to mum and often found it had been me in the past being the first to make phone calls home etc. We lost touch for a while and didn't see one another for maybe a year or so. It's time I'll not get back but over the last few years I've done my best to make up for this but it does not excuse it. I could have done more to understand.
I can relate to how you must have felt with the sectioning. I took my mum to live at the carehome one morning in early January this year. I stayed with her the night before. Even if I'd have tried to explain to her that we'd found a place for her in a home it would never have been understood by her. Verbal reasoning capacity etc was limited to say the least. I will never forget the journey to the carehome or the look in her eyes or face as we pulled up outside with a car full of her possessions. Mum recognised the home from a former visit and knew what was about to happen.
It felt like I can only describe as a betreyal. Almost as though I was taking a well-loved family dog to the vet to be put to sleep when it thought it was heading off in the car for a day out nonethewiser. This and the lost time, and perhaps some impatience on occasions since, is something I'm struggling to come to terms with and probably deservedly so.
Covid-19 meant that not long after mum going into the home all visitations have been banned for most of the year. Even visits at the window. At first we were allowed door step / window visits but these were stopped too. Another harrowing memory is her trying to signal me into the home when stood at the doorstep, getting very confused as to why I couldn't come in, then distressed as the care workers had to take her away from the door. Ten months on and the deterioration has been massive both physically and mentally and I suspect the cut off from family and friends has been a major part in this.
I'm now left questioning whether more could have been done in keeping mum in her own home for longer and all this could have been avoided. But I think not and that's not just me trying to salve my conscience. Having support workers visit four times a day was not sustainable as she lived on her own. This wasn't compassionate care, more just people to quickly make a sandwich or soup etc or a quick shower, then be on their way. Mum needed more than just her dinner making and leaving her alone even for a short while wasn't right. Full time care was really the only option, I think.
There's been lots of ups and downs with the home itself too. I do think they've failed her in some ways too and this led to the sectioning.
At least the feedback from the hospital in the week mum's been there is very positive so far. Certainly much better than we expected.
Likewise, should anyone want to get in touch or feel like I can offer any advice then please send me a private message.
Thanks for listening.
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