Fragile X

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I started a thread on "Fragile X" on a Catholic forums and I was booted off. It said the reason was "anti-Semitic" postings and I was being as charitable a Christian as I could. If you don't know what this disease is -- I was unaware of it and I concider myself a very informed and medically aware person.

This photo gallery has photos of people (most of them children unfortunately) who are affected with this disorder. It is characterized by certian features: long face, droopsy eyes, gumsy smile, short middle finger, "FAS"-type eyes, unusual ear placement, tooth abnormalities (usually inward and spaced), etc. -- all characteristics resulting from an incomplete or inhibited development. I'm not sure if the disease is cosmopolitan or if these photos are. I went on the fragilex.org forums and there are really almost no posts and it seems as if people are being tested for cognative developmental problems. Developmental difficulties -- the premise of "ADD" jokes -- are expected as children grow and learn. 3 yo's ordinarily cannot be expected to write essays. And I think there is a push by parents and others, like Catholics, to ignore the underlining genetic defects. Even in the face of what is really like dealing with people who are intoxicated they suggest that there is not effect on the rest of the population.

Further some groups, like Catholics, would have NO tests done on ANYONE for genetic predisposition to the disorder much less those who have clear symptoms but perhaps can live independent lives. This is concern for me, as a male, because females are known to carry this disorder but are less likely to be diagnosed.

The disease is not binary but instead progressive. It is caused by repeats of a gene on the X chromosome. Ordinarily there are <15. Individuals with major impairment have 200 or more. But people can have say 75 and this will not create the major impairment but the underlying mechanism will still be at work (deficient protein synthesis) with decreased intensity. At some point the X chromosome undergoes breakage.

Many inherited diseases like sickle cell and hemophilia are caused by a single change in the genetic code in the DNA. It is as if there is a single typographical error in the instructions for how to make the protein.

Fragile X syndrome is not the result of a single change in a base. Instead it is known as a trinucleotide repeat disorder. This is because instead of a single error in the code, there is the multiplication of part of the genetic information.

In persons who do not have fragile X syndrome, there is a section of the DNA in the FMR1 gene which is normally repeated a few times. It has a sequence in which cytosine, guanine and guanine (CGG) are repeated in that order about 30 times. Someone with the premutation has 55-200 repeated CGG's in that part of the gene. Someone with the full mutation has 200-800 CGG repeats.

Mutations
Perhaps the most complicated part of the inheritance of fragile X syndrome is that the FMR1 gene can be unstable, which leads to frequent changes (mutations).
Most genes have a very low rate of mutation. The majority of individuals who inherit a disease have at least one parent who is a carrier for that disease since new mutations are rare.
In contrast, once the FMR1 gene changes from stable (standard) to unstable (premutation), it has a high probability of mutating from one generation to the next. Thus, there can be a family with no history of fragile X syndrome in which it suddenly appears in a number of offspring.
Since the FMR1 gene is on the X chromosome, and since it has a tendency to mutate once it has become a premutation, the patterns of inheritance for fragile X syndrome are complex.

...

Within the DNA, it is common to have a repeating triplet such as CGG CGG CGG CGG. All combinations of triplets (AGG, ACC, etc.) occur but CGG and CAG are more common than others. These sequences are a normal part of our DNA and may play a variety of regulatory roles.

So a person may be fully functional cognitively, display little or no deformity, and be a productive member of society -- even in the relatively severe range. The disease does not cause death of the individual.

But what are the dangers involved in something that is more complex than just the sniffles? African Americans appear to differ from Africans. Argentina and Finland both report a "founder effect" -- contrary to reports of racial uniformity.

In fact, reading the data in the report of the African-American study it would seem as though Native Americans (which I am a little bit) have almost NO repeats what-so-ever. The number, 3, is consistant with ordinary DNA coding that would be found on all chromosomes. This would indicate that the number they say is normal -- or found in normal people "about 30 times" is actually a precursor to eventual FRM1 or Fragile X syndrome.

Well, now that we know everything should be a-OKAY, right? Obviously there have been problems in the past. It is unlikely the same type of rampant spread could occur again -- or is it? A little bit of knowledge can be a dangerous thing. African-American's might be seen as a bank of good hearty DNA. Affect individuals with the desire to alleviate their condition would breed with them. The result would be a population that is considered Black but is no longer African.

Similar problems can occur with an unsuspecting healthy individual. The are married off to an afflicted person. The offspring is then also possibly carring a disease that will eventually mutate into FRM1. In the two child family's of the 21st century, this is not acceptable.

Furthermore the claim that anysuch talk is "anti-Semitic" in the context of non-Jewish religion is to: 1) admit there is a connection, 2) admit there are Jewish converts who do not wish to be recognized for this very reason.

The degeneracy that is sometimes associated with an inscribable segment of the population is drain on society. Fragile X can be a common component. When degeneracy develops into crime and misdeed there is little reparation. Being part of a population that has no future, or one that is a genetic devolution (as DNA inscribed information and the us of that information toward uninterrupted biological function is the key to life on earth) leads only to further what good society conciders criminal, amoral and unethical. The discrimination starts as a recognition of ones own differences. The explanation of which can lead to healthy relationships.

Please share your experiences and thoughts on this disease -- and, please, any factual information on the disease itself or medical, scientific and social aspects surrounding it. How have you been affected? The compassionate people of this world want to help -- what do they do that works and does not work? Does awareness feed anti-Semitism? If so how does this change your opinions of anti-Semitism?

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Amy Rice's picture

Those kids didn't look weird or anything...I guess I am partial to children...I would like to know if there are any developments as well...I hope they can find out more. Thank you for making me aware of this.

I don't want to give the impression that they are going to grow extra limbs or anything (don't let me give anyone any ideas).

But you bring up a good point. Most of them look just like kids. As adults who eventually stop developing they have more recognizable features. Some of them can be significantly impaired while others are less affected. As this is a familial trait, it can give the appearance of Ethnic features. This can lead to issues, like prejudice, profiling, etc. And as a society we cannot be expected to eliminate prejudice and other bona fide observations especially ones that relate to health, fitness and well-being.

Cognative acuity is not equivalent to scholastic achievement. The sum of qualia as learnable information is the substantive limiter for learning and only in regards to learning that information. Whether or not it could be processed more efficiently or more readily learned and retained is a secondary issue in regards to teaching anyone at all. So it becomes a condition of medical importance. By default that sets these children at odds with the system. They become classified as special needs. It is not common to do this unless it is necessary because it introduces a label that can be used administratively. This aversion to labels may be hindering proper administration. Ultimately learning is for the sake of the society which employs it.

A common theme is often that of hindrance and blame, especially where there is no medical explanation, on either one end of the spectrum or another.

It is very difficult, clinically, to diagnosis someone by their appearance. As humans we do it. We learn to look past these things; for political correctness we counter-react to what we perceive in fear of reprisal. We have to get past thinking that worse is better. Some people close their eyes to this.

Children are cute, so are animals. Children do grow up. If I were to wave a magic wand and these small imperfections were to go away -- who would you have me not do this? But along the same vein, really if someone nothing but ordinary it should be that much easier to recognize.

The public figures are approximately 1:250 people are carriers of the permutation. So ~1 million Americans. I would estimate the number is greater than that. I would put the number in the range of 5 - 20 million.

This genetic feature came out in the 60's. After WW2 when the US and other nations had already assimilated many Jews and other groups who have a high frequency of Fragile X. And so not understanding it and not having a cure they did not disclose this to the fullest extent. Yet they have used this as a leverage. They have used it as an excuse to commit crimes against the health public. They have ignored the good science and tried to explain it as something that was not genetic. And the sins of the past against health people are now expected to be ignored. All the while they wish to claim rights of ordinary citzens -- as immigrants who have nothing to offer. As separate race but of the Caucasian elite just the same.

But I'm trying NOT to make this a Jew thing. Catholics have a very dillusional mindset. The Kosavar people, many are afflicted with a gentic disorder similiar in nature. If I have not mentioned it before, the "ethic Albanian's" propaganda that has been maintained is false. There are/were some ethic Albanians amongst the Kosavar. But the Kosavar people have a founder effect genetic disorder. Very serious problem that tears at National unity and the lives of good Serbians. So it is in this light that I examine the issue. It is very relavent -- no doubt in my mind this is the crux of all conflict -- but at the sametime world leaders do not have this perspective. In the meantime 500 year old cathedrals are burned to the ground by atheists who have no concideration for what is "superior" or healthy.

Google images the names of cities in Kosavo.

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Amy Rice's picture

I think I expected it from the description of the looks...but after looking they appeared 'normal'. I am in your corner. My cousin has cystic fibrosis, and we raise money for research all the time...we need to find out what we can do and have the knowledge to help, if possible. Thank you again.

I am sorry to hear that your cousin has cystic fibrosis. Would be tested prior to having children, or perhaps you have already been?

Of course there are many genetic disorders out there. Few of them lead to major criminal organizations, major nationalist overhauls, and overall resentment. And you probably don't feel your life is in danger because of cystic fibrosis, whether you are a carrier or not.

Chris Benoit, I have learned was a possibly a carrier of this disease, as his son had related autism. This makes me sad because I liked Chris Benoit the wrestler. I don't feel any animosity towards him. I notice his son looked alot like him and this further saddens me.

Is this the reason why he did this? I don't know. It could have contributed to the decision being made. That is a shame. Perhaps he would have accepeted the fact, had he known before hand. Perhaps he would have decided to ask a relative to father his child.

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Amy Rice's picture

but I have a child and she is perfectly normal, maybe a little hyper...My cousins mom tested positive and more in her family, but from my understanding my uncle had to have been positive as well...no matter what I would love my kid, although losing them would kill me inside...sometimes life lessons are not easy. I am more worried about Down's syndrome and the like.

Part of the difficulty I have with the "natural mate selection" means of maintaining a health population is plastic surgery used to correct imperfections. I had a doctor break my nose and it is now crooked. In an atmosphere of unhealthy people, potential mates may view this critically as symmetry is an important characteristic that is naturally selected for. And in a multicultural environment, facial features are an important to identity as a member of a certain ethnic background, which is important in social selection. Of course this is far more critical in health individuals (and those whose religion is overrun with non-members).

With the elevated population of potentially unhealthy mates, people become overly paranoid to the point of not being able to reform communities. When I concider this, I have less concern for Chris Benoit but also his son. This 'lack of concern" projects poorly and so those who are associated with him and his extended family come under scrutiny.

This seems counter to what is "Morally Conscionable". That this is prejudicial and even unfounded. It does logically make sense however. If someone is boarding people, keeping them, they are a barricade to correct social progress, capitalism and the free market. In fact it becomes accessory to assault and attempted genocide on their part. Harboring a know felon is a crime. Regardless of illness. The illness is merely a means to track down the crime. Only the illness dissuades the harborer of the criminal. This is an endless cycle.

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Amy Rice's picture

I have always believed some people should not be allowed to breed and you know the type, I won't go into it. A group of people, as I have just found out, have decided I have strong genetics and would make for strong offspring...I have to agree. My child is very admired and people stare at her often...so I think I have superior genetics. She is fiercely intelligent and comprehends adult things...though her language could use a bar of soap...

"A Group" of people. Well, you don't know until you get tested. Fragile X can be passed on without any side effects from Mother to Daughter, and can also skip a child. Any womens at risk, no matter how stong people think your genetics are. I wouldn't go with what "A group" of people say in regards to something like this. I would get tested for the gene yourself especially if you plan of having another kid, or we may be hearing from you soon on this subject as well.

I am not sure how Chris Benoit could have passed Fragile X on to his son, reading the mechanism of inheritance it seems like X linked male pattern baldness. Chris and his son did have an undeniable similarity to them -- a similarity that also might be concidered characteristic of Fragile X (whether it is or not).

Which raises questions about other chromosomes and potential damage.

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Fist of all you said “FRM1 or Fragile X syndrome”. Fragile X Syndrome is not referred to as FRM1. The “FMR1” is the gene it inhibits.

I’m a father, and my son has the full blown mutation of the “FMR1” gene. You make it sound like people that have this Fragile X are a problem to society rather then actually looking at it through the eye’s of those who are directly effected by it, and providing an informative view on where these people can seek help.

The issues at hand are not prevention, it’s intervention at an early age. They just learn differently that’s all, and can contribute tremendously to society if given the chance. They are not some brain dead slobbering idiots with no chance in life, like what I’m getting from this blog. You bring up a good point though, yes, there needs to be more testing, more knowledge, and action on governments to intervene at an early age, so that people with Fragile X can contribute later on in life. Yes it is more work on a parents part. But would knowing sooner that my kid would end up with Fragile X change my mind. Absolutely not. It better prepared me for what I had to face as a parent. I would not change things for the world, I love my son. It initially was a “scary” thing to deal with at first for any parent, but once you actually get to know some people that have this Syndrome, it’s probably the biggest gift you will ever get. They are the most caring, funny, and intelligent people I know, just in a different way.

All life and people are different my friend. It’s accepting those differences that makes us human. Once you plant that sperm into a women, you will not get a genetically perfect human. Even if you went in for genetic testing before, you rolled the dice, you deal with what ever creator you believe in has given you. You can’t test for learning difficulties, or behavior issues that can develop in “normal” kids. We all have flaws. I learned genealogy in my science class at the Catholic High School I went to, and deal with many “Catholics” that are geneticists. I think that had you been a bit more focused on your research, you may have been able to make the point you are trying to make with this blog in the other forums.

Amy Rice's picture

is the delight of your life. My daughter's one uncle has Down's Syndrome and he loves unconditionally and is so wonderful...as well as some other families in our community...They are close knit and happy despite the extra work...

The patient information sheets that they give out might relate these two as being similar. And to a patients caretakers, yes, they may be. But the genetic differences are not obscure.

"Fragile X" has a random component to it but is only manifest in those who have the "permutation". So while there may be some certain odds of Down Syndrome, the odds of "Fragile X" manifesting itself are rather high in those with the premutation.

The premutation -- from what I understand undergoes the expansion in some cells of premutation carriers. The repeat encoding is not something that causes bad test scores -- it's not even like a recessive disorder. There are underlying biological effects of missing DNA that lead to the mental retardation. This is the reduced production of the proteins from this chromosome and all things subsequent to this lack of particular protein. So it is more than a learning disability. It could cause an number of other problems as well -- just from the premutation.

Any attempt at a social engineering cure that affects the unaffected in my book is a signature of consent and prescription to the very same. Things like polonium in the Sushi bar, things that could potentially affect the well being of the only working solution there is -- that is a disease in itself.

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I do not expect to sell any vacuum cleaners with the "Fragile X" pitch.

I actually spent time in a State Hospital back when Tom Ridge was governor of Pennsylvania. I found that these people are often diagnosised with schizophrenia, told that they are unable to process information with their brains in some of the coldest, most demeaning formats, and then given absurd quantities of drugs to the point of toxicity to basically turn them into living zombies. Not just the "retards". In fact the "retards" had it good in comparison to some of the borderline patients who's overall physical health was simply ignored as they gained hundreds of pounds.

I help to get these people back into the community by my own Christian love. Giving someone a debilitating drug and then telling them "you have trouble with your thoughts" was what the community gave way to. They have since closed that State Hospital and they continue to close others.

My intention is not to argue ethics, it is merely to point out an aberrant contradiction. Had it been ethics -- "you should believe this" -- I think they would have said "Ah, but that is not our belief". That what I say is reality, I think they realize what is their belief. The solution is not ignoring the truth. God had not been served by erasing my post.

The Catholic church is like prison, you can't change anything from the inside. They are intent on retaining this non-dynamic world while others cover-up the real truth for fear of "Jewish Disease". The result is a few people knowing and understanding the genetic reality, disclosed is only cryptic medical jargon. In the meantime those who need this information -- the entire population of the world that does the fucking -- is left in the dark.

What is more, they leave open the very origins of disease, which many times is not Germany or Italy but Israel, Palestine and North Africa. If you want to talk about an issue that is not the concern of Religion, it is what Country someone happens to want to be in (outside of perhaps Zionism).

But you do make a good point: passing ones own genetic material on to offspring, regardless of flaws of any standard, is a Right of all organisms respected by all lovers-of-life.

The question still remains, however: If Africans do not have this feature -- "Fragile X" -- why do African-Americans? When you start talking about the Rights to pass on genetic material, and then you start talking about Slavery, Racism, "Manifest Destiny", Racial Inferiority, Founder Effect, Genocide, Native Americans, National Healthcare, Nationalism and Patriotism, Conspiracy, Satanism -- I'd say that there is a brightline definition of personal rights to privacy, legacy, reproduction, national security -- that is not a very pretty thing.

As a member of the Native American decedents (but being mostly European) I look at myself and I realize that I am unique. I like to think of myself not as a replacement or preservation of the Amerindians legacy but as one of its valuable assets.

And I also take a European outsiders viewpoint: I want for a Great Nation founded on dignified principals and I want them to be as great, if not greater in leadership. Otherwise there is nothing they could offer my native ancestors but what they previously had.

Matt 12:43 When the unclean spirit has gone out of a person, it passes through waterless places seeking rest, but finds none.
Matt 12:44 Then it says, I will return to my house from which I came. And when it comes, it finds the house empty, swept, and put in order.
Matt 12:45 Then it goes and brings with it seven other spirits more evil than itself, and they enter and dwell there, and the last state of that person is worse than the first. So also will it be with this evil generation.

I'm just warning you is all.

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