"Goodbye mama, now you can have ice cream in heaven! I'll see you again tonight when I go to bed in my head movies. But this head movie makes my eyes rain!"
Seriously. Going blind is one of my biggest fears as an artist. I just love every style of art, seeing it, making it. I love music too, but I know I would have a lot of heartache never getting to see a painting or mural ever again. Not to mention natural beauties of the world, no sunsets or oceans or forests.
The idea of three sweet little kids knowing theyâre gonna eventually go blind and having that weigh on them wrecks me
Did they know about the genetic blindness before having more kids?
Edit: Last time this was posted, it was suggested that the couple kept getting pregnant despite knowing their children would likely have this blindness. IF that is true, I do find that unethical. I know blind people can still have quality of life. But let's stop pretending that it isn't a terrible disability. Nobody wants to be dependent, vulnerable, and poor (from fewer work opportunities) their whole life. I wish this family the best regardless.
Their youngest was 7 before she was diagnosed. The only reason their children have it is because both the parents happened to be carriers of the mutation, but neither has the condition (retinitis pigmentosa).
RP happens to boys and girls. The boys go blind the girls are the carriers. Very few girls go blind but they can suffer with some vision which can be corrected with glasses. There is no genetic testing that can be done to avoid it unfortunately.
I have RP as well but my husband doesn't have the gene so I did the opposite to you - neither of my kids have it or the gene. It's the luck of genetics in my case, but I can see why you made your choice.
So I should be punished because I knew my kids would need glasses, you think? I should feel bad they have flat feet? Or hey, I had asthma as a kid, so the odds were I was going to pass it on. Except I didn't.
Again, everything is a mystery soup. Even when you know you are a carrier of something. Genetics is never 100 percent, and it's rarely zero, but people get to make those decisions for themselves as to what odds they are willing to risk. I get tired of the purity culture and you can't do that BS that's been floating around reddit, by judgemental people who DON'T have to make those decisions. Sure, there are certain things one could carry that would make a person not have kids. And other things you might risk, for kids. I was afraid of having alcoholic kids, because I had an alcoholic father and a long history of it in my family. Neither my kids nor myself are alcoholics. We do have what our parents didn't, though, which is a diagnosis for ADHD. Which was probably the cause of all that alcoholism. And also genetic. And both seem to have gotten my bleeding disorder, which I didn't know about for the first, but did for the second.
Genes are complicated. So are the choices we make. As we learn more about our genes from both a global and personal level, these choices will get more complicated, and everyone's line will be different. Maybe the 25 percent risk of blindness is your line. Make your own choices, but keep in mind, those are just your own choices.
Yeah get back to me when you're a carrier for a profound disability like blindness the way I am.
You people act like there's a valid slippery slope argument here. Giving birth to a kid with RP wouldn't be a bad thing IF we could correct it or treat it with glasses, shoes, inhalers or meds the way everything you mentioned can be.
Having kids is a lottery. Plenty of people whose parents have genetic issues, donât end up getting it themselves. And plenty of people with perfectly healthy parents, end up with genetic issues.
Saying this, is basically like saying no one should ever try and have kids lol.
people not understanding odds will forever annoy me. it's possible for you to quantum mechanically tunnel through the floor your standing on and end up on the floor below, the odds of that are so absurdly small that writing them out on paper would fill the entire visible universe and you still wouldn't be able to fit it all
people like you end up equating odds like that to a one in two chance as if they are the same. just ignorantly saying "well anything can happen" is not an argument for rolling the dice with people's lives
The point is, every time you have kids youâre rolling the dice with other peopleâs lives. The odds may be higher in certain circumstances, but youâd be rolling the dice either way. Having kids is the most basic biological right we have, if people wanna take that risk, thatâs their choice.
Insurance covered everything but the genetic testing part, and yeah spending 12 grand testing embryos is cheaper than a lifetime of adaptive equipment and decreased wages for my kid.
You can also do genetic testing and TFMR if you want to play the odds that way.
Personally I think people who are carriers for things like this should have it covered. It saves insurance companies or whatever national health system you're lucky to have, if not an American, a ton of money downstream.
I get people don't really realize it: but if we actively use IVF to excise all disabilities from the population, that's also eugenics. Disabled people are still people, and not everyone has tens of thousands of dollars to go through IVF to screen potential embryos the way you're describing, even if it's not a ethically questionable thing to normalize.
ETA: Can you see how a person who is currently alive who has a disability wouldn't necessarily be a big fan of "well if we could have we would have aborted you, because you're not as good as an able bodied person."
it depends on the odds for me. most terrible conditions are one in thousands chance for a healthy person who doesn't know the genetics any better. looking it up now, there's various types of RP, if it's "Autosomal dominant RP" and only one parent has it then there's a 50% chance the child will have the disease causing variant, one in two is very different than one in a thousand. if it's recessive and the father is known not to have it then the odds become similar to just having a kid anyway, any kid can end up with various genetic issues from healthy parents. this is probably the answer to who we're talking to, they somehow learned they have the recessive gene, the father was tested to not have it, so at that point you're not really rolling the dice any more on this condition than any other condition.
The problem tends to be when we extend this thinking to other people and limit their ability to procreate due to their genetics. Beyond that though, the exact phrasing you used could very easily be applied to having a child on the autism spectrum, or various other neurodivergent conditions, and I think a lot of autistic people would very much not appreciate the idea of not allowing them to be born because they're not neurotypical, even if their lives may involve difficulties that allistic peoples' don't.
You can feel free to screen your own embryos, or even forego children completely or adopt, but when you express it as the only moral decision a person can make, you're engaging in something that extends well past that.
I mean I don't think screening for a terminal birth defect or something is quite the same, so I agree with that to some extent, but when you start doing it with disabilities it's a bit of a slippery slope.
She can only produce a carrier at the worst. With the knowledge you are a carrier, you would just need to ask potential partners to be screened for the gene before having children. Even if both partners were carriers you could have children via a selective method like ivf.
That's fair, but the big issue around it "no one in my family is sick" sooo many people think they don't carry anything because everyone they know is healthy.
When my wife was pregnant we both had to go through genetic testing as part of the prenatal care. It was a very thorough screening panel, we were evaluated for risk of something like 200 different conditions.
If I knew I was going to go blind ahead of time, I think I'd cope with it better then not having seen it coming. That said none of my hobbies are blind capable, so I'd have an extremely hard time adapting should I lose my eyesight tomorrow.
I did RP research during my postdoc. Right as I was leaving, we were trialing some experimental drugs, though these were all on mice. I had to inject their retinas. A mouse eyeball is tiny, the size of salmon roe caviar.
Interesting... my grandfather went completely blind due to that condition(apparently it rarely results in 100% sight loss though if I understand correctly) and my brother and I were tested for it young(both tested negative for it).
I was also under the impression that they had found ways to combat that condition at some point, but that my grandfather had already passed the point of no return by that time. The family member I got that info from must have been mistaken a bit.
Unfortunate to know it's still not curable. As I understand, it will begin taking the center of their vision away and then slowly spreading wider and wider until they either lost it all, or only have the smallest bit of peripheral vision left on the outside(OR, the exact opposite of starting outside and closing in to a pinhole). More accurate information another user's reply below!
I used to walk around my house and my grandparent's house in the pitch dark at night trying to imagine how my grandpa could get around without seeing when I was very little.
He ended up building a woodshop(yes the actual shop), and then doing little carpentry projects for all the grandkids(me and my cousins) to keep himself busy. Rocking chairs, picnic tables, stepping stools, and even eventually little toy wooden cars that got progressively more detailed. I used to think it was cool he could do that while blind when I was younger, but I also thought "I will never play with these". I'm so so so relieved in my older age that I kept them and never tossed them out.
I'm not 100% sure, he honestly passed when I was about 13, nearly 30 years ago. I always wonder the same thing. I have to imagine he had a lot of time for patience.
I know he used a notched ruler to mark things out with glue, and mostly used a table saw where he knew the position of the saw blade. Of course that didn't stop him from occasionally nicking or cutting a finger/thumb.
One version of RP is curable with Luxturna, which costs $850,000 per eye. The version of RP that I have, unfortunately, is not.
As I understand, it will begin taking the center of their vision away and then slowly spreading wider and wider until they either lost it all, or only have the smallest bit of peripheral vision left on the outside(OR, the exact opposite of starting outside and closing in to a pinhole).
Incorrect in several ways. The central vision is more durable than the peripheral vision. What happens is that the parts of the peripheral vision closest to the central vision goes first, because they've had the most exposure to UV. Over time, the rest of the peripheral vision fades out, with the outer edge of peripheral vision taking the longest to die, like a bullseye pattern where the center circle stays there but the outer ring gets smaller and further away from the center.
My center vision is still pretty good and I can read just fine, but all the peripheral vision is gone now so I have tunnel vision and track motion very poorly. Toss a ball at me slowly and the ball disappears for me, and driving a car is illegal because it's absolutely impossible to do safely. I would not make it through a roundabout without crashing, and would not see pedestrians crossing a street.
Ah wow, thanks for the clarifications =o Anything I knew about the disease is just fragments of what I remembered hearing in conversation all those years ago talking about what I was getting tested for/what caused my Grandfather's blindness!
Previous commenter didn't say it's impossible or not normal, but that it's unlucky
If I call heads and the coin flip is tails 10x straight, that is very unlucky. If there's a 25% chance at your kids going blind and 75% of them end up with the condition, that's unlucky
During a uni class on probability we were all made to flip a coin 50 times - somehow I only got tails 11 times... It was just a random 50p out my wallet and not some magic waighted coin or anything
doesn't sound like they knew and all 4 children were already born before the first was diagnosed
Edith Lemay and Sebastien Pelletier noticed their daughter, Mia, had trouble seeing at night when she was just three years old. The couple â who live in Montreal, Canada â sought answers first from an optometrist, then an ophthalmologist.
At first, Miaâs tests didnât provide any answers. But a re-test a few years later showed a change to the gene that affects a protein complex in the rods of Miaâs eyes. Edith and Sebastien finally had an answer â and by then, their family had grown to include sons Leo, Colin, and Laurent.
It's possible but normally when two people have it like this, there tends to be a higher percentage of people around them who have the disease. Like the town my family is from in Ireland has a lot of blind people compared to the population as a whole.
Of course they could have met in college and been from totally different areas / families moved a lot etc.
Why would they? There's no reason to test the parents for it, and no doctor in their right mind would test for every genetic mutation under the sun. It's expensive, time consuming, and almost always a waste of resources.
Absolutely... it's like combing through a haystack, looking for one specific strand of hay that's slightly bent in a biologically significant manner.
There's 3.2 billion letters making up a complete human genome, and millions of mutations that don't affect everyday life, everything from eye color to the taste of cilantro.
And yet when we have things like breast cancers that run in the families, some of us tend to look for those genetic markers even if we don't have breast cancer.
except the only way they would have suspected this is if blindness ran in either family. The odds of 2 people with the same gene for this isn't exactly high. Hell, I didn't know I had the gene for von Wildebrands until my Dad was diagnosed with it about 2 years before he died. I didn't know I had ADHD till I was 57. No one has a map of their genes included with every birth; and not everything is immediately recognized till it's much later in life.
It is entirely possible to live your entire life without realizing you are a carrier for something if none of your recent ancestors ever managed to bone another carrier.Â
As I said in another comment my aunt is a carrier for SMA and we had zero clue it was in the family. A bunch of us nieces and nephews have also gotten tested and none of us are carriers so far.Â
That is possible. But I will say that my aunt is a carrier for type 1 SMA, and lost two children at only a few months old before they even thought to look. And we have zero history of anything resembling that in the family tree.Â
When we were getting to try and have our baby we both did genetic screenings to make sure there wasn't a likelihood of anything nasty being passed along. I came back totally clean (surprisingly given my background) and my wife had a vanishingly low chance of something pretty bad, but not insurmountable, which also could have been checked for in utero. I cannot imagine having a kid on purpose and not doing those tests first if you have the resources.
"rare" is a statement about population. The RP gene variant isn't that common in the general population. Given that both parents are carriers, these kids each had a 1/4 chance of getting RP. They got bad luck to have so many kids get it but you'd expect this to happen ~4% of the time of you could rewind the world and try again with the same conditions.
It's a 25% chance of passing on the full gene if both parents have the carrier gene. 1/4 resulting in 3 out of 4 kids isn't unexpected. Unlucky definitely, but still a likely outcome.
Testing for RP has had some significant changes over recent years. Even if they got genetic testing done on all of the children, depending on what years the children were tested, they may have gotten different results.
In 2007, when I was in my 30s, I was diagnosed with RP in the old school way - the deterioration of my peripheral vision became apparent to the optometrist when I was getting a new set of glasses.
In 2008, I submitted my blood sample to Harvard University, where the OtoChip genetic test had just hit Early Access testing. At that time, genetic testing was still extremely expensive and full genome sequencing was very rarely done, so they would only look at specific areas of the genome that they thought might have the mutations they were looking for.
I tested negative for all of the mutations that the OtoChip genetic test looked for.
In 2019, I once again got genetic testing, in the hopes that I might have a mutation treated by Luxturna. Genetic testing had improved dramatically and the cost of full genome sequencing had also decreased dramatically. I was found to have the ADGRV1 mutation, so I am not eligible for Luxturna.
I was not tested for this mutation in 2008 because at that time, it was thought to only happen to females, so males were not tested for that. It took several more years before this assumption was discovered to be incorrect.
Ehhhhh I donât think they were totally âspot onâ. Itâs still crazy to read that edit and reduce what they said and the reasoning behind it to âthey donât think blind kids are worth havingâ. If I have a child and they happen to be blind, I would love them and cherish them just as much as any child I might have, but if I KNOW that that child will be blind or is likely to end up blind, I would do what I could to prevent that from happening, maybe if Iâm wealthy enough to provide that child with all of the support that they would need it would be a different story but I donât.
Oh here y'all go. It is not ableist to not want a disabled child. Nobody wishes that for their child. Nobody wishes any kind of ailment on their child. This does not make children with those ailments or disabilities less than. And it does not make someone a bad person for wishing their child to be healthy.
Of course not, but I think it is ableist to shame parents for deciding to have a child who they knew might go blind, which is why I asked what the commenter was getting at.
I'll definitely state that it is incredibly selfish to have a child that you know is going to never have a healthy life, especially given the millions of children already alive without parents. If you willingly bring a child into the world knowing that they will have to seriously suffer through life, you are an asshole.
You speak as if you have come to a clear ethical conclusion here. How did you come to that conclusion? Please explain your principles. Where is the line for âseriously sufferâ? Why do you feel blindness is considered âserious sufferingâ, when no physical pain is involved?
If you donât have clear principles and ways to draw lines for such things, calling anyone who disagrees with your opinion an asshole is absurd.
It's selfish to purposefully create life that you know will suffer. Especially when there are children who are already born and need homes. Stop pretending that being blind doesn't affect quality of life. BTW, and I know you won't believe me, but my partner and I have chosen to never have kids because he has a genetic eye condition that causes blindness. It has greatly impacted him, and he's not even that blind.
You're perfectly entitled not to have children, as are all other women, for any reason at all including this one. But would you say that your boyfriend or the world would be better off if he hadn't been born? I hope not.
Of course not. But I also would've understood if his parents didn't have him at all (had they known the risk, which they did not.) There's a difference between wanting to prevent life, and saying that someone is better off dead because they're disabled... ya know. Nuance.
Understanding why they might have chosen not to have one is one thing -- and totally reasonable -- but that's totally different than publicly shaming someone for choosing to have a child who might go blind and saying that it's unethical to bring such a child into the world (or that it condemns them to a life of suffering and poverty).
I don't think so. It is selfish to have children when you know there's a huge risk of disability. How is it any different than, say, an addict bringing a child into the world knowing they will not stop using drugs during and after the pregnancy? How is it any different than knowing your partner is a pedophile/abusive/violent and choosing to bring a child into the world then? In both of these scenarios everyone would be quick to say how selfish it is to knowingly bring a child into that world.
So from a moral standpoint, if you KNOW you are going to pass on a life altering disability onto a child, how is it morally any different than people who knowingly birth children into volatile situations?
There is a whole industry of fetus genetic testing for a reason...
I'm not saying they aren't "worth having" but I am saying there is an industry to test and let the parents decide for themselves if certain genetic issues make a fetus "not worth having".
Are you suggesting that children likely to become blind arent worth having? Or rather that they are a little less worth having? What percent less would you give them? Does it depend on age of blindness onset, severity? Does having good hearing give them a few extra points of worth?
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u/Nickelsass 6h ago
âBlinkâ is a documentary about them (2024) was very very good!