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

[Outwith Quiddany]

Looks like she had a Luna-but-worse situation. Good thing it's over for her.

Quoted from the appeal response (attached):

Alta’s parents are Hasidic Jews and Israeli citizens. They moved to the UK in 2014. They have an older child now aged 8. Alta was born on 23 December 2018, eight weeks premature. During her birth, she suffered a severe hypoxic ischaemic brain injury. It is accepted that this will inevitably result in early death. Estimates of her future life expectancy range from six months to two years.

Alta is an inpatient at a hospital run by the Manchester University NHS Foundation Trust. The details of her medical history and treatment are set out in MacDonald J’s judgment. In summary, much of her brain structure has been lost. She has extensive multicystic encephalomalacia, although elements of her cerebral cortex remain, together with a limited amount of her thalami and a small area of her cerebellum. There is also damage to her brain stem. At paragraph 9 of his judgment, the judge summarised her current symptoms as follows:

“i) An inability to maintain an open airway and adequate ventilation to sustain life for any significant period of time without support.
ii) An inability to protect her airway.
iii) An inability to maintain core body temperature.
iv) An inability to blink and protect the corneal surface of the eyes, optic atrophy, an inability to perceive light and darkness and repeated ulceration of the corneas.
v) An inability to perceive sound due to injury to the auditory cortex.
vi) Sustained severe spasticity (stiffness from constant contraction of muscles) of the whole body which will increasingly lead to more permanent joint contractures (joints stuck in same position as they are always stiffly held that way by the damaged brain) and scoliosis (a bent spine).
vii) Spinal clonus (contracting jerks of the body triggered by the spine that is not modulated by a brain).
viii) Severe spasticity (requiring medication, positioning for comfort and prevention of contractures, which have already developed in some of the joints of her hands).
ix) An inability to swallow.
x) Seizures.
xi) Global development delay.”

There is a medical consensus that Alta has no conscious awareness, although her parents contend that she responds to their touch. A central feature of the case before the judge was whether she was able to experience pain.

 

[vanilla_pepsi_head]

Sadly anything that child does will break something he appears to have the harshet form. I personally dont agree with putting it on social media. But it is the reality of that kids life and they appear younger then they are since their long bones do not grow at the rate most kids do.

Even sadder with osteogenesis imperfecta is that if it isn't diagnosed and no one knows about it, the baby will end up with all kinds of fractures from doing normal baby stuff and the parents get wrongly accused of serious child abuse when they get a look at an x-ray. Honestly I don't consider it "that bad" compared to the level of shit in this thread, having quality of life is possible, but what an absolute fucking bummer of a disease.

 

[GenociderSyo]

Looks like she had a Luna-but-worse situation. Good thing it's over for her.

Quoted from the appeal response (attached):

"There is also damage to her brain stem."

She is what Luna will become when her brain stem finally becomes involved.

You should repost this info in Luna's thead.

Even sadder with osteogenesis imperfecta is that if it isn't diagnosed and no one knows about it, the baby will end up with all kinds of fractures from doing normal baby stuff and the parents get wrongly accused of serious child abuse when they get a look at an x-ray. Honestly I don't consider it "that bad" compared to the level of shit in this thread, having quality of life is possible, but what an absolute fucking bummer of a disease.

Yep. My experience was with a child living in foster care cause of this taken away because they thought abuse when disorder got diagnosed the parents decided they didn't want him. It is quite strange how nonchalant they become about breaking bones since they are so used to it.

 

[TheCakeIsALie]

Even sadder with osteogenesis imperfecta is that if it isn't diagnosed and no one knows about it, the baby will end up with all kinds of fractures from doing normal baby stuff and the parents get wrongly accused of serious child abuse when they get a look at an x-ray. Honestly I don't consider it "that bad" compared to the level of shit in this thread, having quality of life is possible, but what an absolute fucking bummer of a disease.

There was this ep on Unsolved Mysteries, the mom was accused and went to jail for the murder of her child, Ryan Stallings. She supposedly poisoned him with antifreeze.

She had another child, who was taken away from her. The same thing that her first kid went through, this kid also started experiencing. The lady spent 20 years in prison and turned out both children had MMA, methylmalonic acidemia. Crazy.

 

[Android raptor]

Can osteogenesis imperfecta be diagnosed prenatally? I would think with the most severe forms if you can get a diagnosis prenatally for the kids sake aborting is best. Like with the type that's usually fatal early in life, sounds like an absolute nightmare to have bones basically made of jelly and you eventually die of respiratory failure.

Maybe not as horrific as like anencephaly, but it still sounds pretty fucked.

 

[GenociderSyo]

Can osteogenesis imperfecta be diagnosed prenatally? I would think with the most severe forms if you can get a diagnosis prenatally for the kids sake aborting is best. Like with the type that's usually fatal early in life, sounds like an absolute nightmare to have bones basically made of jelly and you eventually die of respiratory failure.

Maybe not as horrific as like anencephaly, but it still sounds pretty fucked.

Some can be diagnosed prenatally since the most severe forms may actually have broken bones due to lack of space as they grow.

 

[TheCakeIsALie]

Can osteogenesis imperfecta be diagnosed prenatally? I would think with the most severe forms if you can get a diagnosis prenatally for the kids sake aborting is best. Like with the type that's usually fatal early in life, sounds like an absolute nightmare to have bones basically made of jelly and you eventually die of respiratory failure.

Maybe not as horrific as like anencephaly, but it still sounds pretty fucked.

Yes and the most severest form is fatal very early on, which is type 2. They either die in utero or pretty shortly after birth.

 

[Thomas Eugene Paris]

I don’t think so

https://www.malacards.org/card/osteogenesis_imperfecta_type_i_2

What I think is is that the 8 are most common with the other ones being very rare.

Yes and the most severest form is fatal very early on, which is type 2. They either die in utero or pretty shortly after birth.

You're correct; many of the rarest subtypes of any of these genetic disorders are lethal very early in development, sometimes even before implantation. These alleles are usually recessive, meaning that two bad copies must be inherited in order for the organism to display the lethal phenotype. For obvious reasons, dominant lethal genes, which only require the inheritance of a single abnormal allele, are much less common.

Understandably, it is difficult to identify these genes in humans, although they are better characterized in mice. To date, the the earliest known mortality in humans is caused by a homozygous mutation in TLE6, a gene located on chromosome 19. Conceptuses with a homozygous mutation in TLE6 fail to form a zygote, a process that normally happens within hours of fertilization.

Interestingly, each of us likely has one or two of these "embryonic lethal" mutations.

 

[TheCakeIsALie]

You're correct; many of the rarest subtypes of any of these genetic disorders are lethal very early in development, sometimes even before implantation. These alleles are usually recessive, meaning that two bad copies must be inherited in order for the organism to display the lethal phenotype. For obvious reasons, dominant lethal genes, which only require the inheritance of a single abnormal allele, are much less common.

Understandably, it is difficult to identify these genes in humans, although they are better characterized in mice. To date, the the earliest known mortality in humans is caused by a homozygous mutation in TLE6, a gene located on chromosome 19. Conceptuses with a homozygous mutation in TLE6 fail to form a zygote, a process that normally happens within hours of fertilization.

Interestingly, each of us likely has one or two of these "embryonic lethal" mutations.

If WES were dirt cheap, I'd love to find out anything funky. I have the mthfr gene mutation and I'm sure we (the gen pop) would find some interesting things. It only takes one gene sometimes to get a spud baby.

 

[A Detachable Penis]

Yep. My experience was with a child living in foster care cause of this taken away because they thought abuse when disorder got diagnosed the parents decided they didn't want him. It is quite strange how nonchalant they become about breaking bones since they are so used to it.

Even the kids get pretty nonchalant about it as they get old enough to understand. I remember seeing a 6 year old girl who'd report her own bone breaks. Not to say it don't hurt but, humans are pretty resilient. There's definitely more painful disorders than this one (the skin one where it just yeets off has gotta be the worst).

You're correct; many of the rarest subtypes of any of these genetic disorders are lethal very early in development, sometimes even before implantation. These alleles are usually recessive, meaning that two bad copies must be inherited in order for the organism to display the lethal phenotype. For obvious reasons, dominant lethal genes, which only require the inheritance of a single abnormal allele, are much less common.

Understandably, it is difficult to identify these genes in humans, although they are better characterized in mice. To date, the the earliest known mortality in humans is caused by a homozygous mutation in TLE6, a gene located on chromosome 19. Conceptuses with a homozygous mutation in TLE6 fail to form a zygote, a process that normally happens within hours of fertilization.

Interestingly, each of us likely has one or two of these "embryonic lethal" mutations.

Yeah, the high amount of miscarries very early on and the fact that only three trisomies, and one monosomy are viable points to there being a ton of rare fatal alleles hanging around.

Likely due to the amount of bottlenecks in early human populations. Haven't looked at any studies but that'd be cool to look at.

 

[MirnaMinkoff]

You're correct; many of the rarest subtypes of any of these genetic disorders are lethal very early in development, sometimes even before implantation. These alleles are usually recessive, meaning that two bad copies must be inherited in order for the organism to display the lethal phenotype. For obvious reasons, dominant lethal genes, which only require the inheritance of a single abnormal allele, are much less common.

Understandably, it is difficult to identify these genes in humans, although they are better characterized in mice. To date, the the earliest known mortality in humans is caused by a homozygous mutation in TLE6, a gene located on chromosome 19. Conceptuses with a homozygous mutation in TLE6 fail to form a zygote, a process that normally happens within hours of fertilization.

Interestingly, each of us likely has one or two of these "embryonic lethal" mutations.

Also, each individual mutation in different genes may or may not warrant a separate type depending on clinical manifestations and/or treatment options. I.e. specific deficits causing CF are treatable to some extent and I don't even think those get different types.

I assume they usually just use clinical signs.

The bone thing is only visible on ultrasound if the baby happened to have existing breaks/healing bones or weird bone growth due to breaks very early on. Miss either of those and you miss the disorder. Depends on amount of prenatal care, who did the ultrasounds, pure chance (nothing can be seen in the ultrasounds due to fetus positioning), and severity. Pretty sure only the most severe forms have breaks in the womb.

But isn’t there usually a long genetic family history with it? I’m not super familiar with it, but it’s usually not a random mutation? Sort of like CF, it’s not a lightening strike disease, it’s a known factor within at least one of the parents’ family lineage.

Most of the cases (only a few) that I’m familiar with had a family history of the disease. Like, Hot Wheels has it and so does his mother. (I think she had several kids and half were afflicted, half not) The others cases I can recall it was noted the parents indicated there were “other cases in our family” or they seemed aware of the disease due to afflicting the family tree.

 

[A Detachable Penis]

But isn’t there usually a long genetic family history with it? I’m not super familiar with it, but it’s usually not a random mutation? Sort of like CF, it’s not a lightening strike disease, it’s a known factor within at least one of the parents’ family lineage.

Most of the cases (only a few) that I’m familiar with had a family history of the disease. Like, Hot Wheels has it and so does his mother. (I think she had several kids and half were afflicted, half not) The others cases I can recall it was noted the parents indicated there were “other cases in our family” or they seemed aware of the disease due to afflicting the family tree.

Yeah, it usually recessive so it should appear earlier in the family, but if the recessive gene is uncommon in the population, then the only way two can easily meet is through incest.

Sickle cell is a good example. It's recessive, but the recessive allele is more common in parts of Africa. So a person with the allele in Africa will likely have a family history. But if they leave to Europe and marry a white-y, then the family history will slowly disappear.

Their presence in the family history depends on how common the allele is in population.

So for rare alleles, it can avoid showing up like with the Hartley Hooligans. Both parents carried an extremely rare recessive but since it's so rare, neither side had any potatoes baked in it before. It's so rare that the only other cases reported were incest babies in areas of the world where incest is still common.

 

[Crimewatcher 44]

But isn’t there usually a long genetic family history with it? I’m not super familiar with it, but it’s usually not a random mutation? Sort of like CF, it’s not a lightening strike disease, it’s a known factor within at least one of the parents’ family lineage.

Most of the cases (only a few) that I’m familiar with had a family history of the disease. Like, Hot Wheels has it and so does his mother. (I think she had several kids and half were afflicted, half not) The others cases I can recall it was noted the parents indicated there were “other cases in our family” or they seemed aware of the disease due to afflicting the family tree.

Sometimes. It depends on which genes are involved. If the COL1A1 or COL1A2 gene is affected, then it's autosomal dominant, so only one copy of the altered gene is needed to cause the condition. Most people with the more severe forms of O.I., like type II and type III, have no history of it in their family, and theirs is caused by a spontaneous mutation of COL1A1 or COL1A2.

 

[bigfart420666]

 

[TheCakeIsALie]

Sometimes. It depends on which genes are involved. If the COL1A1 or COL1A2 gene is affected, then it's autosomal dominant, so only one copy of the altered gene is needed to cause the condition. Most people with the more severe forms of O.I., like type II and type III, have no history of it in their family, and theirs is caused by a spontaneous mutation of COL1A1 or COL1A2.

Yep, that’s what a de novo mutation is. Occurs spontaneously.

 

[JaneThough]

View attachment 2641809

She dead.

 

[TheCakeIsALie]

Saw this on Instagram and immediately thought of this thread.

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Of course they’re religious….only religious people would think alobar holoprosencephaly is absolutely fine to live with. I’m sorry but this makes me cringe, that kid has no quality of life.

 

[bigfart420666]

She dead.

yes but gwen posts lots of old pics especially unflattering ones of lola’s rash and near death. lots of good material she wouldn’t dare show while they were alive.

 

[Sparkling Yuzu]

So his parents are recording him injuring himself and crying just so they can show their older, now even more crippled, som how he ended up that way? This is literally like a horror movie.

based ableist parents.

Looks like she had a Luna-but-worse situation. Good thing it's over for her.

Quoted from the appeal response (attached):

Wouldn't Luna actually be worse? This one still has some brain left and doesn't have severe hydrocephalus.

In summary, much of her brain structure has been lost. She has extensive multicystic encephalomalacia, although elements of her cerebral cortex remain, together with a limited amount of her thalami and a small area of her cerebellum. There is also damage to her brain stem. At paragraph 9 of his judgment, the judge summarised her current symptoms as follows:

 

[GenociderSyo]

Wouldn't Luna actually be worse? This one still has some brain left and doesn't have severe hydrocephalus.

The brain stem damage is what makes her worse off it makes the brain she has left not mean much at all.