🤝 Community Tard Baby General (includes brain dead kids) - Fundies and their genetic Fuckups; Parents of corpses in denial

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"Birthed a homie with an extra chromie" I think the kid might not be the only one with an extra chromosome here

Does this mean the parents could be carriers for some weird genetic condition(s), or do they just have really bad luck?

Almost certainly there's a genetic concern. They should absolutely see a genetic counselor.
For those who remember this family, the mother posted recently that the younger child has been diagnosed with a very rare genetic disorder called DDX3X syndrome, also known as DDX3X-related neurodevelopmental disorder. It is caused by a spontaneous (de novo) mutation in the DDX3X gene, which is located on the X chromosome. This means that it almost exclusively affects girls, and the causative mutation was only identified in 2014. Right now, there are only around 1000 affected individuals worldwide, but it's actually thought that the syndrome is one of the most common causes of intellectual disability in girls.

The disorder causes a spectrum of intellectual disability, ranging from mild to severe. Language is usually impaired and half of affected girls are nonverbal. In some cases, the mutation also causes structural abnormalities of the brain, including a thin or absent corpus callosum, enlarged lateral ventricles, or polymicrogyria, which can be associated with seizures. Other signs of the syndrome include an unusually small head, spasticity or hypotonia, a long face with a large forehead, and a bulbous nose with upturned tip. Affected girls may also exhibit behavioral abnormalities, including aggression, autistic features, poor impulse control, and self-injury.

So, it turns out the family just have terrible luck. The mutation happened spontaneously at conception and is also completely unrelated to the older daughter's trisomy 21.
 
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Does DDX3X cause more serious issues, like how Downs has a ridiculous risk of early-onset dementia?
It's far too early to tell because it's one of the "newer" conditions that has an extremely small population.


Or can people with it still live long, happy lives as long as they have the support they need and loving carers?
They technically can, if you're ignoring the possibility of them having an congenital heart defect. Nearly everything else appears to be manageable. As manageable as it can be with an intellectually delayed adult who's prone to seizures and zero impulse control
 
Right now, there are only around 1000 affected individuals worldwide, but it's actually thought that the syndrome is one of the most common causes of intellectual disability in girls.
How can it be both "very rare" and "most common" at the same time?
 
Also she doesn't mean CBD oil. She has been giving the kid weed and edibles since he was 5.
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i checked to make sure nobody else caught this, maybe i am late apologies if i am
but this picture is not like the other picture, the first picture he is holding weed edibles, but this picture is almost exclusively magic-mushroom products...
is this also what she meant by edibles, or is this just HER stash?
those bags in the back, i believe, are ready-to-go self-grow mushroom kits pre-filled with medium and spore that you buy and grow yourself
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Thank you both, Thomas Eugene Paris and Oracle Slug. Im definitely intrested

Wow. The mother seems very defensive over not having taken any drugs....

What exactly does Tres have? I have heard of drugs causing fusion deformities of the pallet and he seems to have an extreme degree of one including mental retardation.
I absolutely cannot imagine smoking copious amounts of weed and eating magic mushrooms with that guy sitting in the house. No fucking way.
 
How can it be both "very rare" and "most common" at the same time?

I'm assuming it's rarely diagnosed since it's a fairly newly-discovered condition, but is thought to be much more common.
That's correct. It's "very rare" right now because only about 1000 affected individuals have been identified worldwide. However, it's thought that there are many more out there who have not had the requisite genetic testing or had that testing done before the causative mutation was identified in 2014. Without whole exome sequencing, which is very expensive and time consuming, clinicians have to know what they're looking for in order to identify a disease causing mutation. It's possible that patients who were tested prior to the mutation's being identified in 2014 were missed because no one knew to look at their DDX3X gene.
 
This ladies story is very fishy.
The way she described being interrogated before entering the NICU was telling. I'm betting she had minimal antenatal care and Tres arriving with that face was a shock to all involved, so they wanted to get some background information (which would include wanting to rule out any contact with teratogens). Also isn't doing drug tests on new mothers fairly common in the US?

I certainly sympathise with her regarding the weird rules around money that differ between the states, but I'm guessing she chose CO mostly for the weed access, right?
 
i checked to make sure nobody else caught this, maybe i am late apologies if i am
but this picture is not like the other picture, the first picture he is holding weed edibles, but this picture is almost exclusively magic-mushroom products...
is this also what she meant by edibles, or is this just HER stash?
No that's for the kid too it seems shes shown him eating edibles and other things.
I certainly sympathise with her regarding the weird rules around money that differ between the states, but I'm guessing she chose CO mostly for the weed access, right?
Think so.
 
The way she described being interrogated before entering the NICU was telling. I'm betting she had minimal antenatal care and Tres arriving with that face was a shock to all involved, so they wanted to get some background information (which would include wanting to rule out any contact with teratogens). Also isn't doing drug tests on new mothers fairly common in the US?

I certainly sympathise with her regarding the weird rules around money that differ between the states, but I'm guessing she chose CO mostly for the weed access, right?
for the drug testing, as with most answers when it comes to pre natel care: it depends.

From what I understand, many factors will determine whether a new mom is drug tested or not. In most cases, if the woman is scheduling regular pre natel appointments, the pregnancy is progressing without conplications, the mothers bloodwork apears normal (no strange liver enzyme elevations indicitive of drug and/or alcohol use), and of course the bebe is delivered without major issues, they typically will not test.

On the other hand, if the women did not get regular pre natel care, has elevated liver enzymes, shows outward signs of drug use, and the bebe is born with complications like low respiratory rate, or a strange twitching motion of its muscles (a sign of drug withdrawal since the baby is no longer conected to the mothers placenta) then they will test for drugs.

This is an extremely general answer and it largely varies, but from what Ive looked up thats the gist of it.

It always breaks my damn stone cold Kiwi heart when I hear about drug mamas giving birth to addicted bebes. Being born is already so extremely stressful on an infant and now it has to deal with the discomfort of coming off a substance, let alone go through whatever mental and physical abnormalities it may have developed from exposure to drugs throughout the pregnancy.

Its doubly important to ensure that if a mama IS a drug addict, the baby gets removed before she can breast feed it. In same cases, like for cocain, the drug actaully accumulates in higher concentrations in breast milk than it does in the bloodstream. There have been cases of cocain babys going through an entire pregnancy of a cocain addicted mama only to die once they started breast feeding :(
 
Weed I understand since that can help with seizures and shit, but how the fuck are magic mushrooms supposed to help him?
do you know how when it first went legal, everybody was obnoxiously raving about how CBD can cure everything?
the same thing is currently happening in places where medical mushrooms are now finally legal
what they do is microdose (many references to that in that picture), which is when you take just a fraction of a dose, usually 0.10 to 0.25 grams, if you zoom in on the literature you can make out SOME/enough of it to see she is atleast "microdosing"
it is meant to fend off depression, and generally "lighten your day", quite literally "bring colour" but that is only if its a microdose. if you take 4 or more of those capsules she has on the table, you are going to have a little trip, not just see vivid colours
there is one explanation though, only one i can think of, i dont believe there are any conclusive studies about this yet, but if her kid suffers from cluster headaches/migranes then the magic mushrooms could be legit
similar to weed for seizures, incredible bouts of cluster headaches can be treated with strong doses of magic mushrooms, you WILL trip absolute balls, but it works apparently and the headaches go away
but it could be possible that consistent microdosing can also fend off cluster headaches but i have no idea, that sounds like it could be legit, but this is still all so new
 
do you know how when it first went legal, everybody was obnoxiously raving about how CBD can cure everything?
the same thing is currently happening in places where medical mushrooms are now finally legal
what they do is microdose (many references to that in that picture), which is when you take just a fraction of a dose, usually 0.10 to 0.25 grams, if you zoom in on the literature you can make out SOME/enough of it to see she is atleast "microdosing"
it is meant to fend off depression, and generally "lighten your day", quite literally "bring colour" but that is only if its a microdose. if you take 4 or more of those capsules she has on the table, you are going to have a little trip, not just see vivid colours
there is one explanation though, only one i can think of, i dont believe there are any conclusive studies about this yet, but if her kid suffers from cluster headaches/migranes then the magic mushrooms could be legit
similar to weed for seizures, incredible bouts of cluster headaches can be treated with strong doses of magic mushrooms, you WILL trip absolute balls, but it works apparently and the headaches go away
but it could be possible that consistent microdosing can also fend off cluster headaches but i have no idea, that sounds like it could be legit, but this is still all so new
But she's using amanita, not psilocybin. Amanita is technically legal, but it will fuck you up if you're not careful. Especially since its so easily accessible, people are more likely to fuck it up then psilocybin
 
But she's using amanita, not psilocybin. Amanita is technically legal, but it will fuck you up if you're not careful. Especially since its so easily accessible, people are more likely to fuck it up then psilocybin
absolutely the caps she had were amanita, but the self-grow mushroom bag in the back, "GT" is its label, it could be an abbreviation for "Golden Teacher" which is "Psilocybe Cubensis" which is the most common magic mushroom, but this is speculation, GT doesnt have to mean Golden teacher but i dont know what else it could be
I dont know what the second bag is though
 
Weed I understand since that can help with seizures and shit, but how the fuck are magic mushrooms supposed to help him?
It's insane. And I have known someone who had intractable seizures that did not respond to Depakote or any of the standard epilepsy drugs, but weed completely stopped them. I'm not sure why, because I've known other people with epilepsy who it didn't help at all, or even made worse.
absolutely the caps she had were amanita, but the self-grow mushroom bag in the back, "GT" is its label, it could be an abbreviation for "Golden Teacher" which is "Psilocybe Cubensis" which is the most common magic mushroom, but this is speculation, GT doesnt have to mean Golden teacher but i dont know what else it could be
I dont know what the second bag is though
Amanitas are bad news. There are so many non-toxic psychoactives that it's ridiculous to seek out the toxic ones.
 
Its doubly important to ensure that if a mama IS a drug addict, the baby gets removed before she can breast feed it.
This is also an "it depends" situation - if a mother is on a stable dose of methadone, it's fine for her to breastfeed baby because there is a consistent amount of opioid that the baby was getting in utero (and the treatment for opioid withdrawal in babies is just giving opioids). So she can breastfeed to help with the withdrawal and then wean baby off.

This is NOT the case for mums who are using street opioids because there is no consistency, she might get a huge dose one day and a small one the next. So it's safer to just not breastfeed.
 
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