Hello No sleep- yes Sport was right and here I am large as life and twice as knackered! (morning Sport!)
Two boys 12 and 14. Totally awesome, funny, cheeky, amazing, loving, caring, friendly...
Fragile X is actually the most common cause of inherited LD. Mostly affecting boys (about 1/6000). Girls tend to be milder with the odd exception (about 1/12000)
Mine were diagnosed at aged 2, eldest and 13 months youngest so I've been an 'eff exer' parent for 12 yrs now!
It is basically damage to the X Chromosome and like Sport says, because they only have one X they do not have the back up of the 2nd X like girls (with 2 X's)
If your son has it, you will be the carrier as men cannot give it to a son (as they pass on the Y chromosome) but they will ALWAYS pass it on to a girl (either carrier status or full mutation)
I am the carrier here of course.
Physically they have some distinct features although these vary from child to child and are not always obvious until they get older; my eldest has the long face now but never as a smaller child, (still had chubby and childlike features at aged 6), they have a high pallette- one of the 1st things they check for- cluttered teeth often, sometimes a very big willy area (macro orchidism), some have a simian crease which is like a straight line across their palms instead of 2 wonky lines and also a crease going between their big and 2nd toe downwards towards their heel.
They often have 'flexible' flat feet. Very peachy skin, large or cupped ears (we always wonder if prince charlie has it haha), their joints and ligaments are very flexible causing problems with their motor skills, some have like a flat vision (technical name but can't remember it) which basically means they do not see things in 3D and bump into things/fall over more than average.
Of course they don't all have all the physical features; eldest has the macro orchidism, while youngest has 2 simian creases...and so on
They flap or whoop or growl or go rigid or extend their fingers- all variations and more of that- when excited/anxious.
They become overloaded with infomration easily and often meltdown, do not force him to look at you, try to sit sideways on when sitting with him, esp if you want him to learn something, don't sit face to face, he'll probably glance at you and keep looking away, glancing back etc...(altho my youngest sort of stares at strangers sort of sideways through his eyelashes)
You say you dont want to google it but i would go to the fragile x societys page (fragilex.org) and look up characteristics etc...
Have they said why they suspect FXS?
They have between mild to severe LD- mine are both severe.
Struggle with social life, strangers, crowds, fluroscent lights, noise....
EG a supermarket with flurescent lights, quarry tiled echoey floor, strangers, chaos with choices, tills pinging, etc etc can be an absolute nightmare for them- sensory overload- my eldest never used to cope with supermarkets but youngest was fine so they're all different.
Struggle with maths, joined up thinking but have a good grasp of understand ing the spoken word (more than you'd think)
Carriers have some watered down symptoms (did you struggle with maths at school?) I hate sitting anywhere with my back into the room, people following me upstairs, am excellent at spelling (although I know I've made a few boobs here cos I'm worn out) and apparently we all have a very wicked SOH and see the funny side of the strangest things!
Can you tell me a little more about your son?