It's genetic and dominant (so a parent having it means 50/50 for the children). Average age of onset is 38. Symptoms are a mixture of Alzheimer's and Parkinson's (both dementia and motor control issues).
Her uncle was diagnosed at 38, her mother at 50. I wasn't around for the first one, but have been there for most of the latter case (her mother is now 60).
Watching someone you love deteriorate before your eyes and become a different person week by week is one of the most harrowing experiences one can go through.
"You pick up the phone, you talk to your mom, you don’t have to say anything. It’s a mom". My wife had to go through discovering motherhood without that and she still can't adjust to the fact that her mother is not the same person anymore, it's a constant heartbreak.
I'm just glad there's a simple test for this and that both my wife and her one brother tested negative. So I'll never have to go through what Robin did but that possibly was something I had to contemplate for a while and just the thought of it (and those 2 months waiting for the test results) almost broke me
The reason people tend to think of eugenics and concentration camps and such is because they don't know where your slippery slope leads to. If someone with huntington's disease should not have children for the greater good, what about people with a family history of cancer, or a family history of heart disease. We find people with a tendency towards weight gain less desirable, should those people also not have children? What about people with baldness? It seems absurd but maybe they also aren't all that desirable. Where is the line where we say "You are desirable enough to have children"? And if we draw a line, do we need to enforce it? I mean people with huntington's disease certainly cost society a lot without bringing as much benefit. Should we force people like that not to have kids? Where do we lay that line in the sand and say "this is for the greater good!"
To me, I entirely understand why people give you scorn for your opinion. It is a slippery slope and it goes against a fundamental human instinct that brings joy and happiness regardless of the overall cost, pain, and suffering.
- give the thing an odd, unearned, protection status: lots of things people are wired to are frankly pretty terrible and we could do without them (hierarchical dominance dynamics);
- it's very hard to prove that we're actually wired to something vs it being cultural. Given that we can't even prove this, the above is extra strange: we might be giving special statuses to unnaturally developed processes, and the status quo.
Procreation is not special because people want it. It's special because of its effects on populations and politics. But that's neither here nor there in terms of whether or it makes sense for a given group of people to procreate. That question shouldn't be closed.
> Where is the line where we say "You are desirable enough to have children"?
If there is a process out there that already exists, and you find yourself really not wanting to make a decision that is relevant to the continuation of that process, here's a little secret: the decision nonetheless will be made, and always has been made, just not by you.
So there's no slippery slope here, because the selection process is already in place, we're just washing our hands of it, so it looks like an easy decision because it's not our fault when a child with a horrible disease is born. It similarly not our fault when some people are unable to develop relationships.
But it is real, it is true, and it happens. And we could make a difference.
This is the eternal question of whether humans are ready to actually take responsibility for the process of the world or if they want to continue let it flow freely hoping it works out...
As a few have pointed out the slippery slope argument is a bad one. They are right. The slippery slope could be a logical fallacy. But logical fallacies often lead to scorning and anger and fights and such.
Each disease will have slightly different genetics, but Huntington's disease provides a good example. There, we know that some individuals have a predisposition to developing the disease - this bias results from having over a certain threshold of repeating DNA bases in the Huntingtin gene.
Here's an accessible discussion of Huntington's and similar diseases: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175376/ .
We should encourage people with rare generic deceases to use fertility treatments that filters out particularly bad genes; or adopt children instead.
Where does it end? My Aunt had cancer. My father high blood pressure. I think one uncle on my estranged mothers family was quite mad.
Am I allowed to procreate? Who draws the line on what is an acceptable level of hereditary risk factors?
That is the line. It ends there.
By the way, there are a ton of people who actually do believe that taxes are a slippery slope to socialism! The employment one is funny. But I think there are people who believe consumerism or capitalism is a slippery slope to criminal activity like prostitution. People are so funny.
Embryo selection will still be hugely controversial, of course, but we have to overcome any reflex to ban the technique. Human genetic engineering is a technology that will profoundly reduce human suffering, and every year we delay it is pure misery.
Unfortunately, based on some quick reading, the technique is regulated in many areas and used only in cases where some specific genetic disease is suspected. This artificial limitation is a disgrace.
Deliberately aborting 99 out of 100 or 999 out of 1000 or whatever, that's not how humans interact with each other. That's the sort of decision-making I reserve for cattle or other livestock. (Although we wouldn't make much money if we were so Procrustean in our evaluation...) In that sphere, it's considered immoral by lots of perfectly sane people.
I'm not saying that this practice will never be normalized and accepted by most people. I am saying that if researchers try a little harder and develop methods with the same results but less abortion, the world will be a better place.
1 - There's a particular sequence of bases that are repeated a certain number of times on a certain chromosome
2 - Below 25 repeats: normal, no HD
3 - 25~35 repeats: no HD but there's a risk of spontaneous increase when generating sperm/ovules
4 - 35+ you have HD with more repeats meaning earlier onset and faster progression
My wife's mother has 40 repeats so she's on the milder side of the spectrum(age of onset ~50 and progression is steady but somewhat slow compared to her brother who started at 38)
Individuals in the 25~35 repeats bracket can have children with HD(especially fathers since it seems that there's a higher incidence of increase for them, for some reason)
In our case, my wife tested for this specifically once we seriously started considering the possibility of marriage and children. I'd decided I'd marry her regardless of the outcome but children were a different question altogether, so in that way I do agree with you, but it's definitely not a solution to the problem in the broad case of HD, but in individual cases where it is known to run in the family some people may choose to not have children if they are diagnosed at an early enough age.
That being said, most people would prefer not to know if they have it when a parent is diagnosed, only ~5% of people at risk actually test for it with the vast majority preferring to live in denial. Humans are weird like that, but having seen firsthand what this did to my wife and her family when her mother was diagnosed I don't think I can really blame someone for not wanting to know. You can't make judgements about something like that until you've been in their shoes
And FWIW it has a spontaneous occurrence rate, so even if all known carriers have no offspring it wouldn't eradicate it.
Not disagreeing with you I don’t think, I’d call it disease appearance to happen at middle age at best.
Plenty have visible symptoms in their 20s though usually it’s in their 30s and 40s. Death is usually sometime around 20 years after onset of symptoms, though earlier onset often means earlier death. This is apart from the suicide risk, which is markedly increased. It’s about as awful a disease as one can have.
You do understand that some folks have few options for this, right? I have never wanted children. I'm female. I cannot take hormonal birth control. I would have been sterilized early in life, but most doctors won't do it to young folks. I'm nearly 40 now. Surgical sterilization is more of an option, but is still rather expensive. Additionally, it doesn't always prevent pregnancy and the option that would - a hysterectomy - isn't a healthy thing to do to an otherwise healthy person.
Condoms have their own downsides. Some of the lubricants make me itch. Plus the risk of breaking and all of that stuff. Sure, it is my option, but it sucks. Not to mention that they change the way sex feels for me, let alone the man. Luckily, my spouse is more than willing to be sterilized.
Even with various birth control methods, folks still become pregnant.
Abortion isn't always an option for folks - especially with states and entire countries restricting abortion for any reason. I'm not sure if doctors would test for these genes pre-birth either like they do for a few disorders, and the test itself has has some risks to the fetus.
I can only imagine the hell someone would go through that wants to have children, yet are simply too afraid of passed on some gene that might not be passed on - let alone that they might not even know it runs in the family. I'm not sure they'd be able to avoid having children simply by a combination of accident and happenstance. I've been lucky enough to avoid it, but many others have not and had few realistic options once it happened.
In 1918 doctors didn't know what a virus really was. It could just hijack a cell to reproduce. Measles were a much more real threat, so they focused on that. 18 months later between 3 and 6% of the world's population was dead.
The 21st century will see things we dream of. We can modify t-cells with crispr to attack childhood cancer. There's a HIV vaccine that was successful in human trials .
Have a little more hope.
There is clearly a hierarchy of problem genes which will mean that the philosophical issue is not eliminated. Debilitating diseases is obviously something people are not opposed to eliminating. Eliminating the more subtle personality "defects" though will prove a lot more problematic where we start going into issues of homogenisation in a population.
The most powerful eugenics force in history is the modern education system. It is extremely effective in identifying those with high levels of abstract reasoning and strongly discouraging them from having children. Gets very little attention outside of documentaries masquerading as comedies.
> Guthrie was married three times and fathered eight children
However, Huntington's also robs you of your impulse control, so simply resolving to never have children if you carry (or suspect you carry) the Huntingtin allele may not be enough:
Perhaps because not having existed can be equally as tragic as having existing but having a disease?
Lots of people are living today who were born blind, or with this or that genetic tendency. And they live their lives as best as they can.
Is the argument that these people better they weren't born at all?
I think there are arguments to be made that not every hint of imperfection should be eliminated (who gets to decide what imperfection means?), but your argument isn't one of those.
If I had never existed (for any reason) nobody would be able to miss me, least of all me. My parents would have tried again a month later and gotten someone else. Perhaps someone better, we'll never know.
This statement is true for all people.
Some will agree to that, most wont. So hardly "true to all people" except if qualified ("according to my philosophy of life and not their actual sentiments on the matter").
The problem with the suggestion (or that conversation) is that it creates guilt in people carrying that disease for no fault of theirs. No I am not religious.
No more disease in one generation.
There are very few human beings (if any) that don't have something lurking in their genetic history. An elevated risk factor for this or that.
It's potentially a great way to suppress particular groups of people since there are a lot of heritable diseases that are typically only carried by certain ethnic groups i.e. African Americans and sickle cell anemia.
Also where do you draw the line? Outlaw people from procreating if there's a 100% chance of inheritance? 50%? 1%?
What about nonfatal, inheritable stuff like obesity or blindness? Or fallen arches?
Even the "easy" case (a 100% inheritable, 100% fatal disease) is maybe more complicated than we want to think. What is "fatal?" Fatal in < 1 year? Fatal before adulthood? Fatal in one's 20s? What about a disease that is "fatal" in the sense that it just subtracts 5, 10, or 20 years from one's expected lifespan?
Penalty is a permanent tax of up to 10% of your income for life.
Limit the ruling to conditions which can effectively be prevented with genetic testing which substantially burden society, and which society is willing to gratis help you prevent.
If its a 1% chance of transmission you have a 1% chance of a burdensome tax if its a 100% chance you have a 100% chance no need for us to worry personally about the chance of transmission.
Its not really a slippery slope as nobody is being denied the right to procreate it's just that if they know they have a genetic burden and choose to pass it on anyway they will have to help shoulder some of the financial load they put upon society.
It makes perfect sense to help people for free figure out what skeletons they have in their genetic closet. We all have some but some have a 1 in 100,000 chance of being born blind and some have a 50 50 chance of a painful ugly expensive death and should probably adopt.
My cut feeling is that if we count every genetic disease then two digits are necessary to express this number.
I agree that for simple things such as Downs and Huntingtons it's fine. I'd prefer to know as a parent, but we need to have a deep and reflective discussion about the ethics and agree on the guiding principle for the future.
I often ask myself if the nature of the disease itself make it even worse: AIDS was the worst in its age, people went in streets asking for a cure, now we made huge steps, the same it's happening with cancer, but Alz make everything different: the sick can't make his voice heard, he has no knowledge of what's happening, family, with an enormous economic sacrifice, try to take care of the sick, and their voices become silent.
I'm seeing this for the second time in my family and I can say that I can fully understand who rely in special clinics - Switzerland is famous for this - to stop their life once the disease make them not self-sufficient. A nice view of this situation is given by "Terry Pratchett: Choosing to Die".
I suppose if we made more of an effort now, we’d make considerable progress in 10-20 years.
From March 23, 2018: https://www.c-span.org/video/?442595-4/washington-journal-dr...
From June 19, 2018: https://www.c-span.org/video/?447278-1/marcia-gay-harden-tes...
https://alz.org if anyone else is so inclined.
This was a wonderful piece. Empathy in every detail, while still being open enough to satisfy a reader's curiosity. It read like a book and I accidentally began to feel a kinship with the characters.
Both my grandfathers had Alzheimer's. I don't talk to my mother anymore (who is 68) so I don't know how she is doing, and my father (70) seems to be OK so far, but he's always been a bit 'scatty', so early signs would probably be hard to detect. I'm in my mid 40s but I've long had a lingering fear that Alzheimer’s will get me at some point. I find it absolutely terrifying at the prospect of losing who I am. On and off I tinker with ways of capturing who I am in some way, or regularly think of ways I could invent support devices to assist me when my brain goes to mush. I am definitely preoccupied with this topic. I doubt though, that I'll ever come up with anything to help; I'm simply not clever enough. I am less intelligent today, than I was yesterday. The anti-depression drugs probably don't help in that regard either.
This is why I come to HN every day... The richness of the topics covered, and the knowledge that the comments section is a safe place to share...
Please pardon my self-reflection.
Alzheimer’s is definitely terrifying but leaps and bounds have been made in prevention.
I’m working on a tool to help monitor and track some of these preventative measures: Meports.com
As far as I know, there is no concrete evidence that proves any causal relationship between inflammation and neurodegenation.
Search your report for rs429358; also reported as gs246.
(T; T) is the normal variant.
(C; C) or (C; T) is estimated to increase your chances by "12x for late-onset Alzheimer's and 61x for early-onset disease"
Though obviously unobtainable, I wish there was better ways of measuring cognitive damage than drawing overlapping pentagons, though I seem to be able to pass that one with my own evaluation despite lack of drawing skills.
My grandfather lived his life, so I understand it's very different from the people who develop the disease in their 30s when they were supposed to raise children, start businesses, find their career niche and maybe their lifelong hobby. My grandfather did all that but I'm still very sad. He will forget everything he did, all the jobs he created with his successful businesses, all the laughs from me and my brother when he shared his blunders in life, all the math he learned and loved ... really everything he holds dear.
I remember reading the Wikipedia article about Claude Shannon and crying a few years ago. He also died of alzheimer's and in his last days, he'd forgotten the profound impact he made on the world. I just can't imagine a worse fate, your body shutting down and all your achievements and experiences fading from memory. It would be worse to experience it as a young man, but no matter when it strikes, it's a way to go that nobody deserves.
It's an awful disease. We should make it a top priority to put an end to it.
On topic, this was seriously a very good read and I seem to have a strange obsession of reading about afflictions of the brain and how they manifest in different people.
Strange idea though, can one speed up dementia? Accelerate it?
This legal document would lay out instructions to implement assisted suicide upon reaching a (difficult I know) threshold of mental/physical impairment.
With the exponentially increasing health care burden that aging baby boomers are inflicting on gov't purse strings it shouldn't receive much resistance.
Clearly both can't be true. So at best you end up in a brief window where someone can be assumed to be competent enough to understand their situation while also understanding that the competence may disappear in the near future - possibly by the time they've travelled to a clinic - and someone else will be making a life-ending decision on their behalf.
There also has to be no suspicion that anyone will benefit from accelerating the suicide option - which is not always as straightforward as it sounds, and would ideally have to be investigated explicitly on a case by case basis.
My mother had middle-stage Alzheimer's at 90, although - perhaps mercifully - cancer killed her before Alz could.
We had issues with power of attorney, because she was very clear she wanted to go home and live on her own, and it was absolutely obvious that she wasn't able to do so without endangering herself.
Aside from the emotional heartbreak of having to tell someone over and over every time you meet that they can't have something they really want - because she couldn't remember a conversation from minute to minute, never mind day to day or week to week - there were also a formal legal process involving two oversight bodies (local services, and the national Court of Protection) to make sure that keeping her in a home against her will was actually in her interests.
It would have been far harder if she'd left a living will saying "Please make arrangements for assisted suicide when it gets to this stage" and then apparently changed her mind as the disease progressed to the point where there was no possibility at all of mental competence.
I think I just need to say a few things. So they exist somewhere, because of that fear, anger and sadness brought to me by this story.
I remember the day I woke up, and by that, I mean the difference between being that kid, experiencing, and who I am today.
It happened for me in 2nd grade. End of year, and I realized I could no longer choose to read, it just happened. And I was angry, and excited at the same time.
Was never the same.
That year was the beginning of me, and while I remember a lot from my very early years, those memories aren't like the ones I have later on.
I would fear going to sleep. Would I be the same again, or someone new, or would I forget those realizations I had at the end of that second school year?
The idea of "me" being a fragile state, a pattern that tends to endure, provoked a sense of guardianship. I am in charge of me, nobody else.
That caused me considerable grief growing up. Others, wanting to help, were dofficult to let in. How can I tell that, the human teasing out of who we are becoming, from manipulation rooted in self-serving, toxic ends, not mine, me?
Took years to resolve, and with it came a joy in knowing me, seeing me happen, grow. And others. People of all kinds. It is fun to meet them, see who they are.
That should explain the fear. I am very aware of me, that identity I felt congeal into a thing made aware, to grasp, and guard lest it fase, shift, be lost.
To have it just degrade, fade away despite ehat I know must be a painful struggle...
We need to do the work on this thing. It could be any of us, and ours facing this quiet horror.
Jo is a lucky person. He has someone who knows his story, who can take him back, connect.
We share many ideas and have gone through a similar awakening. As most of the people commenting here, I wish we could all gather around a coffee table to discuss that book and others...
Please, if you haven’t read it, consider doing so :)
That gathering would be epic, very high value.
I was touched by this. Made me think of things I had set aside.
A little dismayed I got negative votes. Was just sharing. Maybe unwise, but like I said, Jo and what he is experiencing...
Yeah, a gathering to just chat, share, good, bad, would have high value.
@ddingus - ignore the haters. I also shared elsewhere on this thread and fully expect to take a vote hit. Sharing shouldn't be about other people, it's about you. If there's anything this whole thread and linked article should tell us, it's that we are all individual people with our own histories and personalities, and each one of us is just as precious as every other.
And it is sent, not requiring a response. More like just that signal, Others May hear, get something from.
Just because it is referred to that way doesn't mean that it is actually the case.
The hypothesis that AD=Diabetes has been around for at least ten years . If it were true, I would have expected to see some results by now about how diabetes interventions can slow the advance of AD, if not prevent and/or reverse it entirely. AFAICT there have been no such results. That casts the hypothesis into serious doubt IMHO.
I don’t think this is a new/recent revelation at all (and in fairness, I cut the next part of your quote that acknowledges decades old research).
And while not all cases of type 2 can be reversed (most can) but maybe more importantly 100% of cases can be prevented through diet/exercise.
Is that accurate? Honest question. I know adult onset diabetes is strongly linked to obesity, but would have thought there are other potential causes as well.
"Epidemiological and basic science evidence suggest a possible shared pathophysiology between type 2 diabetes mellitus (T2DM) and Alzheimer's disease (AD). It has even been hypothesized that AD might be ‘type 3 diabetes’. The present review summarizes some of the evidence for the possible link, putative biochemical pathways and ongoing clinical trials of antidiabetic drugs in AD patients."
If they are linked by a common factor, it makes me scared to think of how many alzheimer's patients there will be in 40 years.
Or, here's some more current research being done at the Mayo clinic.
In any event--this man had a confirmed genetic condition that was the definite cause of his dementia. He was going to get it, no matter what actions he took.
While it may be true that some dementia in obese people may not have manifested if that person did not overeat, that is not the case here.
I recommend you read the article.
Note that the data is obviously tainted by the reduced average lifespane in some countrys.
There is a nice list of theorys allready:
- If sleep deprivation was the source, then citys with a wild nightlife should show more cases then countryside citizens.
- Diets exist in all forms and colours, if one would exclude the alzheimer component- the ethnic group would stand out. Instead they seem rather more prone then the default groups.
- Blood-Brain Barrier crossing viral Infections introduced DNA-Damage
- The usual noise.
People condemning any behavior they dislike of any group they dislike as the source.
I can only add speculation of dubious value:
- What if dementia was the result of the memory storage process being finite? But wouldn't a sensory value deprived mice for example then be save from the effects?
Has anybody seen a experiment, where high cognition loads and stress/ sleep deprivation where driven against low cognition, stress and sleep deprivation?
Tldr:- Didn’t find any specific gene linkage. Less stress, low cholesterol and the other standard healthy metrics seems to make a difference.
I would like to see this. Do you have a link to a peer reviewed study?
In autopsies to Alzheimer patient brains we can see the small arteries of the brain clogged with fat and colestrol, here is a video showing this with pictures - https://youtu.be/WhtpyVhlu28?list=PL5TLzNi5fYd8E6GHQcmIWYGE7...
If plaque building in main arteries can cause heart atacks, the exact same blood is getting to the brain - imagine what it will do there.
If anyone here has Alzheimer in the family and would like to preventively change their diet, have a look at this other video from that playlist - https://www.youtube.com/watch?v=t-noCw4LsY4&list=PL5TLzNi5fY...
In summary, there are strong indications that a whole food plant based diet low in fat is the best-known way to prevent Alzheimer's and even alleviate the symptoms.
Hope for Alzheimer Patients: https://nutritionfacts.org/2017/12/26/hope-for-alzheimers-pa...
It's important that the diet is not only plant based, but low in fat as for example there is a lot of Alzheimer's in India where a large part of the population is vegetarian.
This has been linked to ghee (clarified butter), as per this video:
Oxidized Cholesterol as a Cause of Alzheimers Disease - https://www.youtube.com/watch?v=Y15yI5LLlNY
Breaking the site guidelines with throwaway accounts eventually gets your main account banned as well, so please don't.
For example in the video "Oxidized Cholesterol as a Cause of Alzheimer’s Disease", the sources cited are summarized here in this article - https://nutritionfacts.org/video/oxidized-cholesterol-as-a-c...
If you scroll down and click on the tab "Sources", the linked studies are there.
38 years is a long time, I don't see why the age makes you immediately conclude that it can only be genetic and not influenced by diet.
Getting obese is also genetic, some people can still be slim with the standard western diet, while others start gaining weight at a certain age.
Yey, if you eat right you will likely never get obese, even though you have an obesity-prone genetics.
If some people can get heart attacks at 38, why is it so surprising that they can also get Alzheimer's if they have been eating foods very high in fat and cholesterol multiple times a day non-stop since birth?
If Alzheimer's is triggered or strongly linked to dietary choices, at least we should be informed of that while the studies continue.
You may want to post peer-reviewed research papers backing those videos instead. It’s a lot easier to review.
You can see the sources by scrolling down and hitting the "Sources Cited" tab. Do you have reasons to believe that the information has been misinterpreted?