Life with Down Syndrome

128 points78 comments2 days ago
nrjames

I have a friend who has a 501(c)(3) that makes really nice documentaries about people with Down syndrome, focusing on the positive influences they have on other people in their lives. They're on YouTube. Here's one I watched recently:

https://www.youtube.com/watch?v=9dCzejMK9jU

This is the non-profit:

https://www.storiesmadewithlove.com

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gadders

Contrast this with Iceland: https://www.abc.net.au/news/2024-05-01/iceland-prenatal-test...

"In Iceland, upwards of 85 per cent of women elect to have prenatal testing, and close to 100 per cent of pregnancies where Down syndrome is diagnosed are terminated.

Denmark isn't far behind, with a termination rate of 98 per cent."

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gwbas1c

About halfway through the article.

One of the things I like is the article really gets through the facade into understanding who Gabe really is. It doesn't focus on quirks, and instead humanizes Gabe.

teekert

As a molecular biologist I would almost want to investigate if somehow the total expression of, or accessibility of this man's third Chromosome 21 is somehow reduced because this person seems to be very close to normal (2xchr21) humans on the normal to severe Down syndrome -spectrum. I have seen people with 2 times 21 with a more Down syndrome-like face than this man's even.

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origini

Its a nice article and a positive one.

Unfortuna another documentary about people with Down Syndrome were more heartbreaking. A young girl got told from a doctor that not only shouldn't she get to try pregnant, the chance is very low already and that she has other medical concerns she needs to handle.

Not something she could handle without a proper care taker though.

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dkenyser

Taking advantage of this post to encourage others to look for volunteer opportunities in your area.

Growing up my mom worked closely with children/young adults with disabilities so I was exposed to people with down syndrome from a very young age and I am so incredibly grateful for that. Today I just try my best to keep her work going.

LeRaven

If you don't have someone with Down Syndrome in your life, you are missing out. They are awesome and have amazing hearts.

ImJamal

I know a guy with down syndrome (kid of my parents' friends) and I would have to say he is the happiest person I know. Anytime I see him, he gets a huge smile on his face. He walks over to me and asks me how I am doing. He is such a friendly and cheerful guy. I saw his mom scold him for being disruptive and he got a frown for like 10 seconds and then he returned to being the happiest guy around. To be able to always be that happy is a goal so many of us fail to achieve.

shevy-java

He appears to have a rather mild form of down syndrome.

Now - Down Syndrome is typically called trisomy 21, that is, you have three copies of chromosome 21 when normally people have two copies of each chromosome, excluding XY in regular males (2n = 46 in humans, the diploid state; naturally females would have XX, whereas humans would normally have XY, unless there would be a genetic change leading to a different ploidy state here as well; normally those with Down Syndrome have regular XX or XY condition for that chromosome, only chromosome 21 has a +1 higher count). If you, however had, look at as many examples as possible for people with Down Syndrome, you notice a huge range of differences here. That is, some are affected by the condition a LOT; others have an almost normal life, compared to perhaps average to a bit below average "regular" humans. I also noticed something similar for the progeria disease. Now, progeria is much more problematic and severe than Down syndrome; but there is a huge range of people with different symptoms here. Adalia Rose had a severe variant and did not survive past age 15, whereas Tiffany Wedekind has a less severe variant (but also exercises a lot and tries to keep healthy, despite already facing significant health problems, at age 48 this year now).

So we see a huge pleiotropy of different genetic conditions. In most cases exercises, activity and mental mood improves things, but there are hard caps and limits. For instance, Adalia could not have done as Tiffany did, simply due the genetic status being different. It reminds me of the movie Gattaca (now almost 30 years old) - it's a bit slow and a bit over-drama, but has great actors and an even greater take-home message aka "The Underdog who never gives up". Good to have seen it at the least once, too.

boxed

> But because he has Down syndrome, someone told him he’s different.

Down Syndrome is a quite serious genetic abnormality, pretending it's not with silly statements like "someone told him he's different" is absurd.

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abstractspoon

I'm not Downs but I have a personality disorder such that I've always felt different. I'm 60 now and yet to meet anyone, M or F, who seems remotely like me. I was married, didn't end well, and have a daughter who doesn't talk to me. I live every day bathed in the knowledge that I am utterly alone in the world, despite having 2 close female friends. It has always been this way. It will always be this way. I try to live a quiet secluded life.

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avazhi

> But because he has Down syndrome, someone told him he’s different.

Yes, and him being different (in a negative way) is a statement of fact. One shouldn't be going around shouting this into the faces of people with Down's, but we as a society have to stop pretending low IQ is something to be celebrated or disregarded in people.

Low intelligence as an attribute (not the unfortunate person saddled with it) ought to be universally stigmatised and we should be doing our best to eradicate it from the population. That certainly doesn't mean we should go out of our way to disrespect or dehumanise stupid people to their faces, but there has to be some sort of policy nuance in both treating them with respect while also calling a spade a spade and acknowledging that certain traits and conditions would be better off not existing in the population.

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