There are many articles and medical journals that can provide a precise definition. A quick google search is all you need. Here is my first hand, non medical definition that hits the highlights.
As little babies, all of us have hundreds of thousands of little brain synapses reaching out to make connections and grow strong. Along the lines of our development, a certain protein called FMR1 steps into the picture enabling some connections and disabling others. This protein does not exist in the bodies of Fragile X people. Their brains take in thousands of pieces of information, more than you or I can ever imagine, but there is no where for this information to go. Only a few tenuous pathways exist to give it a permanent residence in their brains. Knowledge gained is hard fought, but permanent.
Physical development is fairly normal. A few differences may exist including large heads, soft connective tissue (which creates soft skin and hyper-extendable joints), large ears and elongated chins, but this is not evident in all cases. It is the mental development that takes the punch. Delays in learning, speech, motor skills, attention, behavior and social interactions are what we see across the board. There are varying degrees of each in all affected people.
My daughter is in a constant state of hyper awareness. You and I filter out tremendous amounts of information everyday. What we don't filter out gets organized and stored in our minds with the full confidence that we will be able to retrieve it when we need it. This doesn't happen for my daughter. All of this information piles into her brain with no where to go, and no way for her to hold onto it. Imagine a perpetual traffic jam on the information highway in your brain. Complicate that by not knowing where the offramps are - or that they even lead anywhere. It is easy to see why my daughter can become overwhelmed so easily, why she is so sensitive to sights and sounds, why she can not stay focused on any one item, why she exhibits severe mood swings and behavior outbursts, why she thrives on and requires routines and perseverates on the unknown. We can also see why she so desperately reaches out for a social connection, a life line, even if she doesn't know what to do with it when she gets it. People call it road rage when it happens on the highway. People call it bad parenting when it happens with our kids.
XQ27.1-28. Letters and numbers that seem so random, yet are so powerful. These are the portions of the X chromosome that are missing from my daughters DNA. Section 27.1 through 28 of the Q arm of the X chromosome. 27.3 is the specific portion that creates FMR1. For the typical person with Fragile X, there are a significant number of repeats of 27.3, rendering it unable to produce this protein. In my daughter's case, 27.3 is missing: same result though, no protein.
One in every 800 men and almost 260 women walk around as carriers of this syndrome. Women pass the full mutation on to their children, but they receive it from either parent. Boys have more extreme cases, as their chromosomal makeup consists of 1 X from their mother and 1 Y from their father. Girls receive 2 X chromosomes, allowing one to help make up for the deficiency in the other. Because it is genetic, it can reappear often in the family tree. My daughter's condition is not inherited and was a spontaneous mutation of her chromosome. This does not exist in my family tree.
A few random thoughts:
- It is quite amazing actually that more bits and pieces are not left off of people's genetic makeups. Maybe they are and have been for generations. We just see them as other things.
- Imagine for a moment if those hundreds of thousands of connections where allowed to develop? I have heard that the average human uses 10 % of their brain. Could evolution be directing us to realize more of that capacity? Could these kids be the forerunners of that evolution?
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