Can anyone talk to me about Fragile X Syndrome?

[NoSleepTonight]

DS1 6yrs 9 months is being tested for it - I don't want to google!

Thanks

I might ring his secretary again tomorrow, if she cant tell me then maybe ask if he is going to send a letter, or if I have to wait till the app. The bloods were sent to northwick park hospital, but his consultant is at hillingdon hosp and the genetic clinic runs from there at certain times, which is why I have to wait till jan for that.
Maybe it because he hasnt got the full results back yet or something why the sec cant see it, I dunno, but its very frustrating.

I doubt if the secretary would be allowed to give them to you over the phone Biz. I would ask to speak to the geneticist. If she says he/she is unavailable then ask when he will be and book in your call with him/her.
I was lucky i had a lovely guy who was so accommodating with info etc and got us in within a few days of my receiving the letter saying eldest had FXS but have since spoken to a couple re my brother who were so up their own backsides it was ridiculous.
Don't accept that you have to wait til January, that is bloody mean and unfair and they can't expect you to have this shadow hanging over you til after Christmas.
At least if you have the results you can deal with it if it is positive. if it isn't, next step...
You have the right to be told ASAP, this is your son and this is your lives we are talking about.
Be strong and firm.
Do let me know how you get on my love

Thanks, Ive rung the secretary today and asked her, she said she will email the dr and chase up the results so Im waiting for a call back to see what she comes up with, if not it'll be two weeks from now till I see him and he should be able to tell me then, but may have to wait till jan for a more detailed explantion with the geneticist maybe, as he is a neurology/child development doctor, so he might only know so much. I'll let you know :)

Ok it's a start Biz. Maybe if she's not rung you in a day or two then ring her to remind her or find out what the gen has said.
Good luck honey

Well we saw the consultant yesterday and come out even more confused really. The fragile x test has come back normal, however they have found an abnormality on chromosome 4, but cant tell me anymore than that. We now have to have the same test to determine if either of us have the same thing on our chromosome, if we have its probably normal and part of our dna, but if we havent then they will investigate further. The consultant we saw cant tell us anymore than that, and we have to wait till we see the genetics specialist in january to get a more details, and she should have mine and his dads results by then.
Very frustrating we were convinced he had fragile x and had almost got used to the idea,and at least we would of had an answer, seems we are back to square one with the not knowing again now :(

Oh well that is great news. But frustrating for you too Biz. Like you said at least you would've known.
Did the consultant say what his repeats were at all? Or give you a copy of the report?
0-50 repeats is normal range
50-200 i think is carrier and anything above this is full mutation, but then it gets way too confusing with mosaics etc- I don't know much about all that.

What a nightmare for you all, all this waiting and then still not being any the wiser...do let me know what the proper outcome is Biz.

I wonder what happened with No Sleep too

Hi Unpa1d, no she didnt say what the repeats were or anything, all she said was it was in normal range. Its just the waiting cos now potentially he has something else,had a quick look into what conditions might go with this chromosome but havent found much, if its anything I think it will be something quite rare. It just the waiting really. Thanks for all your support, I will be back with an update after the genetics appointment, which isnt till mid jan :-(

You're very welcome Biz, I'll keep a watch on this thread to see how you get on in Jan. Don't get on much but I'll catch up don't worry...best of luck and try not to worry too much. It might be nothing to worry about

Hi. I know you had posted the message in August but I felt compelled to respond. My two children have Fragile x syndrome and we have had really excellent support from the family support workers at The Fragile X Society UK.

website is www.fragilex.org.uk

I also work with parents, counselling anyone who has a child with special needs.
www.juliewalescounselling.co.uk

I know Julie, she's an excellent counsellor. xx

Hello i am new to this thread..i have been chatting on hypermobility for a week. I wont give a big message in case you have all gone now but love to "speak"to some one if any one still comes on ...i will keep checking .

ps have found all the comments since sept very interesting and informative.

JulieWales, are you living in Wales? If so whereabouts? I'm in Anglesey and have 2 boys with FX. I too love the FX Society! Life savers for me in the past!

Hi....anyone still following?