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

Hi, sorry, I've been out and just got in.

My paed has done a study in it, but yes it's because of some of the physical features that she has mentioned it to me, he is having a whole host of tests, (7 different forms) but she suspects if it's any genetic syndrome this is the most likely.

I understand that symptoms can be the same for various conditions, I was only asking about fxs as it's the only thing that was mentioned by name other than autism.

We are going back in 3-4 months unless we get a call beforehand.

Just feeding ds3 now, I will try to get back on and read everything through properly when he is asleep.

That's the impression I got from your 1st post No Sleep; that this was the only gen test being done.
Do you remember what physical tests she looked for? Like did she look in his mouth, look at his feet/palms of his hands, check his bits down below?
They're the most obvious- the high palette etc. You can check this yourself if he lets you, just try to tip his head back a bit so u can see inside his mouth at the roof and see if his pallette is narrow and high, check his palms and toe area for simian creases etc...
Remember they don't have all these features but the high pallette seems to be consistent in all I know of. They also often have 'cluttered/crowded' teeth (my boys ended up with 2 rows adn their teeth were so strong and refused to fall out allowing room for 2nd set! youngest still has 2 rows in places! In fact youngest was born with a tooth and they both had at least 10 each by 6 months old. Not much fun for my poor old nips I can tell you!
It could well be that it isn't this, what do you think from A) what she said B) what you've read C) your instinct?
3/4 months sounds about right for timing anyway, they do take ages. Sometimes sooner so I hope you don't wait too long for a result one way or t'other my love.

He has a high palette, his teeth are tight and close and has not lost any at about to turn 7, not even any slightly wobbly ones. He has flat feet, as does my dad. His ears stick out and his face is more skinny stretched oval than round, I have a long slim face, also a rather high palette, the dentist has always commented on this.
She said that his bits down below are on the large end of what she'd expect for his age.
She did examine his hands for a long time, but I stupidly didn't ask why, as she was also seeing how many finger joints were double jointed at the same time so assumed it was just that.

Although she is testing for other things, she said it more in a "while we are taking blood anyway" way if that makes sense. FXS is the main test that she is wanting to do.

Can I ask if people with fxs tend to be slim? I only ask as he's tall for his age and so incredibly slim - he falls into the 'underweight' sections on charts, but only just

She was also asking a lot about mine & my dads history of depression and anxiety - we have both been admitted for it in the past, my dad has been on anti-depressants now for around 20 years.
Unsure if that was relevant to fsx or something else

No that is totally relevent to FXS NO Sleep. Carrier women have a higher chance of clinical depression than any other parent of a disabled child. Also males -esp full mutation- have a high risk of severe depression.
If it is this (and plz note I do keep saying the big IF) then the questions she asked you were relevent to FXS.
It could be that your dad passed it to you and you to your son (IF It's this)
It may well be that she wanted to confirm that she was right to test for FXS hence the family history questions or it may have been to strengthen her thoughts on the subject.

I do not suffer with depression- well no more than the next person- a bar of chocolate and a picture of Johnny Depp to drool over and I'm a happy little munchkin! BUT my mother has been in and out of places and is always depressed (she passed it to me as the carrier, we think she got it from her dad) - i had a pretty horrendous childhood actually but at least now I can come some way to understanding why she was so bloody awful!

As for thin- well my two were little chubzmunsters up until about age 9 or 10, now they're totally thin, esp eldest who is the image of my bro (also a carrier) my bro has always been incredibly thin and tall.

You can examine his hands yourself- his joints will be lax but if you look at the palm of his hand there may-or may not- be a simian crease- it's hard to describe without showing you- but basically instead of the two lines which go across our palms they sometimes have one line going straight across. Also his feet, if you check between his big toe and 2nd toe you may see like a line-or crease- going down towards his heel- it's not a long line only about 1 or 2 inches long but it starts between these two toes.

Does he eat a lot or chew a lot (apart from his fingers and thumbs)- Pica it's called- like anything he can get his hands on. My eldest chews every bloody thing in sight, inc in the past 10 and 20 pound notes!

I hope you don't mind me asking but did/do you struggle with anything? I won't lead you on this, you tell me if there's anything...

I don't know if this is relevent but I was always incredibly thin too- up until aged about 38 I weighed 7.5 stone and at 5'6" was at least a stone and half underweight, despite 4 pregnancies- I lost the weight within weeks each time.
Ate whatever I liked, never put on an ounce, but also very active, rarely sat still- although as I age I become more sedentary!
I always thought it was cos me mum didn't feed me enough!!!

I'm 5'7 and weigh 8 stone, and like you after all 3 pregnancies the weight falls straight off, I can eat anything when ever I want.

Umm, other than the depression I would maybe say I struggle more with my emotions as a whole, and tendency to over-react / snap easily when pushed. Mood swings I guess.
I refused to have a big wedding which everyone found 'weird' I only invited immediate family & best friends on each side, the thought of being centre of attention was bad enough without having cousins, plus ones, great auntie whoever etc there. I didn't want anyone there I didn't know and speak to on a weekly basis.
I hate being pushed out of my comfort zone but doesn't everyone..

We can't have wall clocks in the house as a ticking clock will be the only thing that I can hear, for this reason I don't wear a watch, and dh leaves his in a drawer downstairs rather than keep it in our bedroom otherwise I'd not sleep! the humming of the fridge is another one, I can't sit and watch something/read with the door between the kitchen and lounge open.

I sit on my legs/feet and I guess re-adjust myself a lot, even at the dining table I'll have a foot under my bum.

I am also hypermobile, which growing up always thought was doing so much gymnastics so I was bendy. Only when they diagnosed ds1 as hypermobile did I find out I was. He was sat in a weird way with the OT & she commented on it to which he said 'mummy does it too'

Ds1, he chews other things yes, mainly things that he's wearing so buttons on his top, the belt of his dressing gown, the cuff of his sweatshirt.

It's the tips of my fingers, my wrists and my hips that are most noticeable - can put my leg behind my head, thumb can touch my wrist/arm, my index fingers can be pushed against a table (or bent by someone) and the joint clsest to the tip will bend 'the wrong way' to make a right angle

www.nlm.nih.gov/medlineplus/ency/imagepages/17226.htm

Link to an image if a simian crease if it's any use!

struggle more with my emotions as a whole, and tendency to over-react / snap easily when pushed. Mood swings I guess.

Snap!

I refused to have a big wedding which everyone found 'weird' I only invited immediate family & best friends on each side, the thought of being centre of attention was bad enough without having cousins, plus ones, great auntie whoever etc there. I didn't want anyone there I didn't know and speak to on a weekly basis.

Snap. With my 1st marriage I hated it all, the big marquee I got rail roaded into, all the people...nightmare. With my 2nd wedding husband said it was only because I'd had a big 1st wedding that I didn't want it again but I tried to explain that no it wasn't that, I just didn't want everyone staring at me, he didn't get it then, but now in hindsight having the 2 boys he understands. I didn't even get it myself then!

*I sit on my legs/feet and I guess re-adjust myself a lot, even at the dining table I'll have a foot under my bum.(

Snap, sat here right now with left leg under bum! Always sit like this or with leg across my lap kind of thing, even in meetings!

I am also hypermobile, which growing up always thought was doing so much gymnastics so I was bendy.

Snap. In my day I was called double jointed! Not quite so flexible now but that's mainly old age (47) and lack of effort but can still do a 'crab' and kick my legs over others shoulders haha.

It's the tips of my fingers, my wrists and my hips that are most noticeable - can put my leg behind my head, thumb can touch my wrist/arm, my index fingers can be pushed against a table (or bent by someone) and the joint clsest to the tip will bend 'the wrong way' to make a right an

Sounds like my brother! He can also bend the tip of his finger ( 1st knuckle)without bending the rest of his finger!

Thanks for that link Sport, I didn't think of looking for one! Should have.

Ds1, he chews other things yes, mainly things that he's wearing so buttons on his top, the belt of his dressing gown, the cuff of his sweatshirt.

The boys are the same. OMG the amount of clothing we used to get through, everything shredded; cuffs of coats, shirts, sweatshirts, all buttons chewed off, everything just used to look ragged! Eldest chews mobile phones, remote controls, dog toys (how gross is that haha), the babies toys (my grand daughter), anything which he can reach, he sits in front of telly chewing away!!! Bits of paper, cardboard, everything!

can still do a 'crab' and kick my legs over others shoulders haha.

This has made me laugh, it was known as my party trick, 5" heels and there wouldn't be anyone too tall for me to do it to.

Don't mean to post and dash but ds1&2 are fighting over a space hopper by the looks of it!

(Bump for Unpa1d)

Hope you're ok NoSleep

Aw thanks Sport, I've been trying to find this post to see if No Sleep has had her results yet but I couldn't find it...I'll have to keep bumping it til she comes back lol.
But I know the results can take ages. Mine took between 4 months (eldest boy) 3.5 months (youngest boy) but 6 months for the girls for carrier status.

Hope you're ok. Mine go back to school tomorrow after 7 wks off. I'm knackered haha.

I've been thinking about her too - hope she's still about!

So will you get a bit of a break once the boys are back to school?
I go back to work next week after 13 months off - I think it might be a bit of a break too actually :)

I hope so too Sport.
Not much of a break; 1st day back tomo and I'm at hosp morning and long meeting with social services all afternoon.
Next week I start my PGCE at a college 40 miles away and am stressing as to how I'm gonna get there in time when the boys don't leave for school til 8.50am! ( I have to be in for 9.30)!
But still, got couple of days this week to get things straight I suppose...haha.
What about you? yours back yet?

Oh goodness that is tight!! But well done you for heading back to college, very exciting! I'd love to retrain but the course I'd like to do is over £2,000 per year and we just couldn't afford that at the mo!

My two are still under school age, DS1 is being statemented at the moment (proposed statement now 4 weeks late) and we're hoping he might get a pre-nursery place for a few hours a week! DS2 is off to private nursery which is costing a small fortune but we'll trial it for a few months and see how we manage - I might end up having to stop work which I don't really want to do :(

That's hard Sport, I remember having the 2 boys at home, 18 months apart and it was really trying. Eldest never slept and of course youngest was hard work being a baby anyway and I couldn't go out or have anyone in the house...it was such a relief to finally get eldest into a little nursery for SEN 2 mornings a week and then get support workers to come take youngest out once or twice a week for an hour or two.
Had a fabulous health visitor. Was so sad when she left.
It will get easier my lovely. Promise.
Have a good day today.

Excuse me, just bumping...bumpitybump

Sure we'll just continue our chat! Had a lovely day today - how was yours :)

Morning Sport. It was...busy! 1st hosp, then making numerous important calls (doesn't it drive u mad when they're engaged/not answering!), an hour walking the dogs, then chucked them back indoors and off to meeting with the 'SS' (!!!) and my soliticitor...suffice to say jolly glad solicitor was there as I might've been had up for bloody manslaughter; had these wild images of myself leaping across the large table and 'laying on of hands' on certain SS members (e.g round their bloody throats)...can't say too much on here but enough to say that at one point I was so stunned by comments my mouth literally dropped open before I regained my composure and let rip!!!!!
Off to take eldest clothes shopping today as she's off travelling (for up to 2 yrs!) with her partner (very sad face on me but happy for her). Gonna miss my baby soooooo much.
What are you up to my lovely?

'Tis I!! Seasonal name change!

Sorry you had such a crap day! Mine was pretty awful yesterday - phoned IPSEA head office to find out if they advise on Northern Ireland told yes we do. So phoned the helpline 280 times before I got through only to be told sorry we don't advise on Northern Ireland!! Grrrr! Eventually got through to the NI version only to be told I've got the timelines wrong (I know I haven't - proposed statement 4 weeks late) and that I should be thankful it's even as far on as it is as there are school age children not in education because their statements are late. She basically said - your child is much better off than many and because of his age he isn't a priority! This is the person who's supposed to be helping me ensuring the education board meet their guidelines!!

On a more positive note - lucky DD heading off on her travels, I'm very jealous! Oh to be young again! Where's she heading first?

Oh Sport/RWC you poor thing, I would've been seriously stressed and probably on my way to a hernia by then! Or at the very least a prolapse.
How bloody frustrating it all is. I mean it's hard enough caring for our extra special kids but the barriers we have to climb over to ensure they get some sort of 'normality' in their lives beggers belief.
At one point I was told to do what other parents have to do and pay for after school clubs or childminders.
Now bear in mind my kids are 13/14. No after school clubs for that age. No childminder would take them unless I paid them a zillion quid per hour (plus they'd need 2) and 13/14 yr old NT kids don't actually need childminders, so i shot that particular argument down in flames from the off!

DD starting in Oz. I have a rellie there and they also have friends there. They have their 'tefle' courses sorted so can teach English as a second language too, they're hoping to go to cambodia, Laos and all over...They've given in their notices at work, got their visas, it's really happening...I'm over the moon for her but also devastated on many levels. Not least of which my boys will also miss her terribly and wont understand where or why she's gone.
Wouldn't be so bad if she didn't live here with partner but she does. The boys adore both of them and they are brilliant with them.
I'm absolutely terrified they'll get bitten by a lethal spider!!!! Crazy to worry about something like that but I am phobic about them anyway and I know they get some real dodgy ones in Oz.
Tell me I'm being stupid! I'm normally so practical but I know I'm gonna go to pieces once my baby goes, while I still want them to if that makes sense.

FFS - after school clubs!? Do people actually think before they open their mouths. What astounds me the most is this comes from people who work in the so called 'field'. Our HV asked me if I was going back to work and I said yes on a trial basis as we have been unable to secure childcare for him and my parents and inlaws both have their own health problems. DS is heavy and a dead weight, he won't sit in his pram, so has to be carried everywhere and his wheelchair isnt expected until Xmas. Her suggestion....me and DH work shifts around him....oh great idea sure there is loads of flexible jobs like that out there!!! Grrrr (again)

And yes you are being stupid :) phobia's are irrational fears! They will both have a ball, it'll be such a life changing experience. They are well organised having done their TEFLE in advance. I'm sure you will be devastated that they are going - but it will fly in and with Skype/FB etc its so much easier keeping in touch, which hopefully the boys will enjoy. Could you put a big map up on a the wall and chart their journey for the boys!?

Here, read some of your posts on the Theme Park AIBU thread. You certainly have a way with words, I hope you are training to be an English teacher - you are an excellent wordsmith!! Have you made your first journey yet?

Oh yes I quite imagine them saying that, these so called professionals! My goodness if they're the experts...where the hell does that leave us!
SS also keep banging on about my other children helping; although i've explained eldest works (until she goes to Oz) 12.5 hr days an hour drive away, youngest DD (20) works FT, lives only 10 miles away but has no transport so needs 2 buses to get here and also has a 17 month old DD herself, plus her partner works 12 hr shifts FT!
But it's like I'm not even speaking, they ignore me totally.
The most recent comment when i explained that seperated partner would do as much as possible to help but works 6 days pw 13/14 hr days, this woman who is the head of childrens services, said he will have to cut his hours down then, I said he can't, he has rent and bills to pay, so she sneered at me and said 'oh so he's putting his rent before his childrens welfare?'...to which i replied "Hey I've got an idea, he could forgo paying his rent and bills, get evicted, buy a dustbin for himself and when he's saved up some money from his JSA could perhaps purchase a second dustbin for when the kids stay over". God did I let rip about them implying that my ex was anything except a wonderful father!
They are freaking unbelievable! My solicitor jumped right in then saying surely you should be praising MrX for managing to secure a job in very difficult circumstances, not vilifying him and surely Mrs X should be applauded for studying so hard to provide for her family.
Grrrrrr
Haha thanks for the compliment, yes most people say i have a way with words, inc my lecturers when I was at uni! They said they wished they could explain things the way i do haha (I thought If I was on your salary i might teach you!!!)

Good idea with the map, I really want one of those gorgeous globes, you know the big shiny ones. I like shiny things, must've been a magpie in a previous life! Before this I reckon I might've been a fly which would explain my phobia of spiders!!!

I could always bump up our income by going up the 'Dilly' and swinging our handbags like Howard told Ethel to do once, she came back with £4.10. He asked her 'what tight b*ard gave you 10p'
"All of them" she replied!

Have a good day Sport.

I wonder where No Sleep has got to?