Aspies For Freedom

I have discovered that my family shows signs of fragile x on both sides and that is the link that causes autism in my family.

My mother shows aspie traits, the men in her family show the physical characteristics of fragile x, plus learning difficulties and speech delay.  Also the women show physical characteristics but not so pronounced.

On my father's side there are mild physical characteristics in the men, history of artheritas which we suspected was genetic, plus spine problems in one.  Also a female who had POD and has GAD, Vertigo. The two male children diagnosed with Autism are severe regressive with epilipsy, one has the hyper - joint thing as does his sister.  Then there is me, always had a big head high fore head and slightly large ears - needed orthodontory when I was 11 as I was getting my dad's messed up teeth.  

I mentioned fragile x to my doctor she said women can not get it they are carriers, my research said they can if the father has it and the mother can pass it.  Shows how ignorant GP and pychiatrist's are to Autism and genetics.  Its all in a blood test.

It frightens me, there a tendency to arthiritas, I show early signs in my knees (I cycle a lot) and a tendency to early menopause I am single almost 30.  Plus there is a clear link to severe regressive autism and fragile x with boys.  Kind of has an bearing on my future fertility. As for me being treated for bi-polar, now I will get the help I need and get checked for eplipsy to explain my absent moments and mood swings.

Come on! Do you expect a 24-year old GP, fresh (or crushed!) out from university, to know all the details of all syndromes on finger tips?!

Don't call them ignorant. Say that they did not have the opportunity to discover further. Don't blame them. Blame the system!

I knew a woman with hemophilia.  Her father and brothers had hemophilia.  Her mother was a carrier.  It took the doctors a while to clue in but she was not diagnosed until she started menstrating which almost killed her.

Fair enough she did have to look it up on her computer.  Still genetics.  Interesting thought I chatted to a lady from fragile x society who was critical of the American websites list of characteristics of fragile x.  Very nice though.  She said some of these characteristics can be in the general population, pointed out the example of the royal family.  Big ears!!! Also implied that the affected boys would tend to be moderately learning disabled.   However I have heard the story as it goes of people in care who should not be if they were born today.  Had me thinking, what defines a learning disablity from mild to moderate?  Is it education and labelling?  The Royal family is know to have genetic problems, most obviously heomophilea (I know I spelt that wrong), would we ever know if they had fragile x probably not, would they be written off as learning disabled probably not, would some boys still have some trouble learning (Prince Edward?), be socially inept (Prince Philip?).  Would they have routine, well yeh.

My mum's family is South African, our behaviours were either beaten, talked or argued out of us.  Also diet is different in this country.  My concentration and behaviour improve as has my sisters with diet changes, which my mum battled for with my sister, I battled with my mum to let me be a vegetarian as a teenager and my mum was like if you are going to do it you will do it properly - hey I got 9 GCSE's (well I did get an F in Maths!) and 3 A-Levels and a degree - no one thought I would but I did.  My doctor and the lady I spoke to today said I should get a more simpathetic ear from Simon Baren-Cohen and he will likely recommend genetic testing.  

I got tested for fragile X in 1998, it turned out that I didn't have it.

Fragile X Syndrome is fascinating:
The general population has less than 60 CGG repeats.
People with more than 200 repeats have a full mutation which causes fragile X syndrome.
But what about people with 60-200 CGG repeats?
These are considered to have a premutation. They are considered as "normal" people with some Fragile X Syndrome characteristics.
It makes me wonder:
* Did anyone check the percentage of aspies among people who have 60-200 CGG repeats?
* Did anyone check the percentage of people who have 60-200 CGG repeats among aspies?