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?
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 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.
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.
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.
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.
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...