Scenario: Find out if you have debilitating disease, or live in blissful ignorance?

[tshile]

Here's a scenario:

 

Your great grandmother dies when you are young, diagnosed with Alzheimer's Disease.

 

Later on in life your grandmother is diagnosed with Alzheimer's Disease.

 

About 10 years into your grandmother's illness, family starts asking doctors about these issues that are going on that don't seem to be related to Alzheimer's Disease. Doctors discover there's been a misdiagnosis, your grandmother actually has something else. Frontotemporal Dementia.

 

It's a nasty disease that takes your ability to function away from you. In the lesser common case you lose the ability to speak, write, and comprehend. In the more common case your behavior is radically changed - you become violent, aggressive, angry, and nasty. You also lose your ability to comprehend, speak, carry a conversation. Eventually you become immobile either way.

 

You will need long term, 24/7 care at some point. You can live a long time under that care, though you'll be sitting in a chair staring at the floor the whole time.

 

There is no cure. Worse, there is no treatment. It commonly occurs in your 60's or late 50's and you can live into your 80's with it, but it is known to show up as early as your 20's. Once it starts you're not stopping it, you're not slowing it down. How long you go from the early stages to the need for 24/7 care can vary. 

 

FTD comes in the hereditary and non-hereditary forms. I may butcher the real numbers but it's something like:

There's a 10% chance you have FTD caused by a gene change that is hereditary, and if you have that kind there's a 50% each one of your children received it.

 

There are a list of gene mutations that can be tested for to tell you fi you have the hereditary, gene mutation that leads to FTD.

 

Do you take the test? Bonus points if you elaborate.

 

Not part of the poll - Do you encourage your parent (related to your grandmother/great grandmother) to take the test? Even if you're not willing to encourage/discourage, do you have a strong desire whether they do?

[TheGoodBits]

If I've got kids, or plans on having kids, I'm taking the test for them more than me.

[skinfan2k]

interesting take to play God to determine when your expiration date will be.  Regardless of how advance society gets, we will never catch up to nature and some way will end ur life 

[tshile]

interesting take to play God to determine when your expiration date will be.  Regardless of how advance society gets, we will never catch up to nature and some way will end ur life 

 

well, it doesn't determine 'when'. my understanding is that part of it is not in any way predictable. most people have it onset int heir late 50's to mid 60s, but there are plenty of cases of it coming in your 20's, or 70's.

 

the test just tells you whether you've inherited the mutation that causes it, and family history shows there's a strong chance the one case you actually know of was inherited from someone who was potentially/likely misdiagnosed.

 

there really is no playing God here. you can't do anything about the disease. you can simply know if you have this inheritable form of it.

[BornaSkinsFan83]

Count me in for ignorance is bliss.

[Sacks 'n' Stuff]

Before I answer I need to know if this is completely hypothetical or not.

[tshile]

Before I answer I need to know if this is completely hypothetical or not.

 

edit: let me be a little more precise.

 

No, it's not a hypothetical. This is  modeled off a real life situation. The details are accurate. I may have the %'s on chance of it being hereditary and/or passing it along wrong, but if they are I don't think they're off by much.

 

But nothing that comes from this conversation here will affect the people involved in. This is not a "I need advice" thread. FTD was part of the topic on the latest VICE episode about doctor assisted suicide (which I don't want this thread to turn into, but those people want the right to end their life before their disease turns them into a sack of bones and a burden on their family) which made me think to start the thread.

 

So treat it as a hypothetical, but know that this situation exists and will continue to exist. I don't believe they're any closer to a cure or treatment for this than they are Alzheimer's Disease (which this is often misdiagnosed as)

[Sacks 'n' Stuff]

I'll still need to think about it some. That's some **** I hope I'll never have to go through.

[twa]

I don't see much use for that test if it is not treatable, having kids is a crapshoot even if you didn't have the gene.

 

 

Maybe worthwhile if you were the type to clock out early, but in that case ya already got bigger problems 

[Renegade7]

I need to know what I'm dealing with. Medicine is rapidly advancing, and though I doubt there will be a cure in my lifetime, treatments will come up that I am sure will likely depend on early detection to stand a fighting chance.

[Koolblue13]

Sounds like a mind ****. Am I grumpy laterly, being forgetful or is this the beginning of my demise?

No thanks.

Sounds like my grandmother, but pretty sure it was just a mix of her being a bad person and Alzheimer's.

My hereditary issue is enlarged arteries. Might have killed my grandfather, but its hard to tell thanks to years of drug and alcohol abuse. My dad had it and got a splint.

I'd rather not know and just have it pop. 6 second death. My dad was in his early 60s when he almost died. Me, who knows. I've been veg most of my life, so I'm not at risk for heart disease because of diet, but thanks to my lifestyle I am high risk.

[Bang]

I take the test.

One, i have kids, so i wouldn't want to be any burden.

and two, if i take it before i have kids, i may change the entire course of my life.

 

 

~Bang

[Xameil]

If I've got kids, or plans on having kids, I'm taking the test for them more than me.

Why?

Just because you have it doesn't mean they do and vice versa. I say ignorance is bliss until they find a way to stop it or drastically slow it down if it's caught soon enough.

[mcsluggo]

Here's a scenario:

 

Your great grandmother dies when you are young, diagnosed with Alzheimer's Disease.

 

Later on in life your grandmother is diagnosed with Alzheimer's Disease.

 

About 10 years into your grandmother's illness, family starts asking doctors about these issues that are going on that don't seem to be related to Alzheimer's Disease. Doctors discover there's been a misdiagnosis, your grandmother actually has something else. Frontotemporal Dementia.

 

It's a nasty disease that takes your ability to function away from you. In the lesser common case you lose the ability to speak, write, and comprehend. In the more common case your behavior is radically changed - you become violent, aggressive, angry, and nasty. You also lose your ability to comprehend, speak, carry a conversation. Eventually you become immobile either way.

 

You will need long term, 24/7 care at some point. You can live a long time under that care, though you'll be sitting in a chair staring at the floor the whole time.

 

There is no cure. Worse, there is no treatment. It commonly occurs in your 60's or late 50's and you can live into your 80's with it, but it is known to show up as early as your 20's. Once it starts you're not stopping it, you're not slowing it down. How long you go from the early stages to the need for 24/7 care can vary. 

 

FTD comes in the hereditary and non-hereditary forms. I may butcher the real numbers but it's something like:

There's a 10% chance you have FTD caused by a gene change that is hereditary, and if you have that kind there's a 50% each one of your children received it.

 

There are a list of gene mutations that can be tested for to tell you fi you have the hereditary, gene mutation that leads to FTD.

 

Do you take the test? Bonus points if you elaborate.

 

Not part of the poll - Do you encourage your parent (related to your grandmother/great grandmother) to take the test? Even if you're not willing to encourage/discourage, do you have a strong desire whether they do?

 

who cares if your parents take it, if you want to know, you take it.  and i would want to know.   

[bcl05]

I'm a medical geneticist, and deal with families going through this and similar issues on a daily basis.  This is as deeply personal a decision as it gets, and very reasonable people take different approaches to it.  I think it is critical to meet with a geneticist or genetic counselor to talk through all the pros and cons before making this kind of decision. 

 

I'd be happy to talk by PM if it would be helpful.  I can also get you names/contacts for good genetic counselors/geneticists wherever you are geographically.

[TheGoodBits]

Why?

Just because you have it doesn't mean they do and vice versa. I say ignorance is bliss until they find a way to stop it or drastically slow it down if it's caught soon enough.

Because if I have a good chance of passing down a gene that will impact my future children, or their children, it could very well impact my decision of whether or not to actually have kids.

[Chew]

I don't take the test.  I'd rather live my life knowing it might happen than knowing it will (even though I could also find comfort knowing it won't happen).  Kids would change all of that, though.  

 

If you guys haven't seen "Still Alice" with Julianne Moore, it's mandatory viewing.  

[tshile]

who cares if your parents take it, if you want to know, you take it.  and i would want to know.   

 

Well, if your parents are going to need 24/7 care that might be something you want to know. It could also help to know to look for signs, though there's definitely an argument of that causing false alarms as some have pointed out.

 

I'm not into genetics, but I believe if your parent doesn't get the mutation then they can't pass it to you. So that's also a factor, but not as much as the first I would think.

 

Also - if your parent decided to not know, and you took the test and found out you have it, then that means your parent has it. I would find it hard to not tell the parent once you know that, which would in effect go against their wishes.

[Xameil]

Because if I have a good chance of passing down a gene that will impact my future children, or their children, it could very well impact my decision of whether or not to actually have kids.

See, to me, that would not affect whether I have kids or not. Just because I have a gene that could turn into a disease does not mean my children will.

[China]

I'm with skinsfan_1215 and Bang on this one.  Take the test.  It may influence whether I have children or if I already do, how I prepare so as not to be a burden for them later in life.

[TheGoodBits]

See, to me, that would not affect whether I have kids or not. Just because I have a gene that could turn into a disease does not mean my children will.

You're right, if you have the gene there is "only" a 50% chance that your child does. No big deal, hope it works out for them.

[Bliz]

See, to me, that would not affect whether I have kids or not. Just because I have a gene that could turn into a disease does not mean my children will.

50% is an awfully big chance

A girl on my freshman hall had a similar situation. A nasty early-onset Alzheimer's type disease that, for whatever reason, often skips generations. Her mom had it, and it was real bad. She wasn't gong to get it herself, but was likely enough to pass it on to her kids that she was dead-set against ever having any of her own, and planned to adopt or possibly look into egg donors and ivf instead

Personally I take the test. Not just for kids, but also because if I know there's a good chance, nothing about the ignorance would be blissful. I'd rather know for sure then just know it was possible. I'd go crazy wondering or worrying about whether I had it

Would you rather know or never have it anywhere on your radar is a different and more difficult question

[Xameil]

You're right, if you have the gene there is "only" a 50% chance that your child does. No big deal, hope it works out for them.

It's less then 50%. Plus it isn't a big deal....first off when will it start effecting them? Probably later in life. Perhaps a cure will happen, maybe there won't be one. No one knows. Just like no one knows if they will pass the gene on, or if the gene will even "activate"

So if you want to use that as an excuse for not having kids, then fine, but stop the chicken little holier then tho attitude that you decided to not "burden" a child with a disease that they mayor may not get that quite possibly could be cured within your own lifetime.

My grandmother died of Alzheimers in her late 80's, my grandfather died of dementia on his 90s, so I am sure the gene is in my family too. Does that mean I'm not going to have kids? He'll no! I have a daughter with another on their way because living to late 80's and 90s seems like a nice long life to me.

Just saw your additions...that's good, you take the test and find out you have the gene, and then become a paranoid, hypochondriac always looking over your shoulder for the grim reaper. Have fun with that.

Me, I'm perfectly fine not taking the test and knowing there's a chance I may get it, but I'm not going to stress about it, because when it's time to go...it's time to go.

[TheGoodBits]

I'm thinking Xameil needs to carefully re-read the OP for details on the disease, its onset, and the odds of passing it along to a child. The entire last post seems incredibly selfish, in the context of this thread about this specific case presented.

[bcl05]

It's less then 50%. Plus it isn't a big deal....first off when will it start effecting them? Probably later in life. Perhaps a cure will happen, maybe there won't be one. No one knows. Just like no one knows if they will pass the gene on, or if the gene will even "activate"

 

 

This is very inaccurate for a lot of important, monogenic, autosomal dominant neurodegenerative diseases.

 

Typical, common Alzheimer's disease (with symptoms starting after age 70) is a complex disorder with unclear genetics.  For families with early onset genetic dementias (examples include frontoemporal dementia, familial Alzheimers from PSEN mutations, huntington disease, Fahr's disease, CADASIL, many others) the risk of passing on a condition to chilren is exactly 50% and the onset is (for some diseases) quite predictable based on the specifics of the genetic abnormality.  

 

 

These are devastating diseases with early onset neurodegeneration that rob people of their independence in what should be the prime of their lives.  They are absolutely a big deal.  

 

Again, I do this for a living.  If anyone has questions about genetic testing, PM me.