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Can anyone talk to me about Fragile X Syndrome?

(88 Posts)
NoSleepTonight Thu 04-Aug-11 21:23:41

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

Thanks

1980Sport Thu 04-Aug-11 22:00:52

There's a poster here with two DS's with fragile x - I'm sure she will be along soon.

In the meantime - my understanding of it is that it is one of the most common genetic causes of developmental delay and predominantly affects boys as they have XY sex chromosome so therefore don't have a spare X chromosome to pick up the slack of the fragile X. Girls can be carriers and can also be affected but less severely so. We were told that it is usually one of the first tests done in cases of unexplained developmental delay (my DS was tested at 1.3). Why are they testing your DS and is this being done together with other tests?

Claw3 Thu 04-Aug-11 22:28:56

Ds had this test along with a few other genetic tests , just to rule them out before being given his dx of autism.

unpa1dcar3r Fri 05-Aug-11 07:30:52

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?

unpa1dcar3r Fri 05-Aug-11 07:39:33

The main thing to remember is as scary as this is if he has it, he is still your gorgeous special boy and will acheive so much more than what you suspect now.
I despaired when they were younger, esp with eldest, but now what they achieve is amazing.
Oh I forgot to say they generally have trouble with speech.

Now listen to this, my youngest has just given me 20p (!) out of his pocket money so I can buy myself some flowers! How many 12 yr olds would do that for their mums eh?

NoSleepTonight Fri 05-Aug-11 09:21:07

Morning, thanks for the replies.

I'll outline some things about my son which is why the paed has ordered the test.

He has learning difficulties, he can not write, letter formation & spacing is terrible.
He struggles with change, sequencing, instructions, prone to cry several times a day at what to anyone else would be nothing. Anxious and generally awkward in social situations. He will make eye contact, but a lot of looking away then flicking back.
Twists/contorts his arms and hands, bites his thumbs and sides of his fingers until they sometimes bleed. Can not sit still for long, always wriggling, shrieks with laughter or general over excitedness at what no-one else appears to find entertaining.

After watching a show on the iplayer this morning for example he has sung 'i love monnkeys, i loves monkeys' in a silly voice over and over and over and it will probably happen several times over the course of the day now.
Seems to almost need to make silly noises if that makes sense.

He's often distracted in his own world when he's meant to be working at school, he can do things when he has someone with him, when left alone it all goes out the window.

He's hypermobile in several joints, stamps/slaps his feet when walking.
Struggles with mainly finer motor skills, though still can not catch a ball, arms go everywhere when he runs etc. Also poor muscle tone.

He does have larger, sticky out ears that no-one else in the family appear to have.

He has friends, though he's very much the outsider if you know what I mean, though he does not see this himself.

Had more or less constant glue ear which was blamed for speech delay, though had grommits at 3y7m. Speech is still not what it should be.

We've struggled for so long to get to the point where we're taken seriously, our doctor is lovely, it just took a while to get here to this point. Lots of being fobbed off as 'quirky' needing longer to settle. Don't even get me started on school!

He also has a curve in his spine, a split in his bottom of his spine and suffers with constipation and bed wetting, though these could be a different issue..

God, written down that does seem like a lot. He's a sensitive, caring, loving, entertaining slightly quirky little boy. We're just fighting to get him the additional support he needs.

NoSleepTonight Fri 05-Aug-11 09:21:59

Sorry for typo's. Got squidgy ds3 sleeping on me smile

unpa1dcar3r Fri 05-Aug-11 12:45:10

Lots n lots of typical FXS stuff then No Sleep. The spine thing too- lots of our boys get scoliosis of the spine. Everything you've outlined screams FXS BUT it could be something else too. I don't want to say it sounds like FXS and then it isn't but it does sound like it, sorry- I might be very wrong.
Mine go to SEN school and love it there, they're not 'outsiders' if you know what I mean.
Do you find that although he is basically sociable that he is on the periphery of stuff going on, like he wants to join in but is not quite sure how to? Or wants to be invited to play, too shy to push in...

The earlier you find out the better so that you can learn the best way to educate him and to get him what he needs to cope in what is a very confusing world for him.
Have they said how long to wait for the test results? My eldest took about 3 months but youngest was a bit longer and then had to get my girls tested for carrier status which took nearly 6 months (they were clear)
If your son has it then I would imagine that your other children will also need testing- even if just for carrier status as this will have wider implications for them, later having children etc.
You won't need testing as it is clearly from you if it's a boy child IYSWIM.
It will also mean that other members of your family may need testing, sisters, brothers, cousins etc...

Our boys do tend to suffer with ENT problems although often they do grow out of them to a large extent as they get older.

Now this is how common it is; I have a friend 2 miles away with a FXS son, another 5 miles the other way with 3 grown up FX'ers, another about 12 miles away...
Feel free to private mail me if you want to, and I would suggest the Fragile X Society who are not only lovely friendly people but can give you loads (or a little if that's all you want) of information. You will find their details at fragilex.org and you can 'phone them.
I think they probably saved my life in the early days, having to get all 4 of my kids tested over a 2 yr period wasn't much fun!

unpa1dcar3r Fri 05-Aug-11 12:48:25

The repeating speech that he does is called echolalia. My youngest has this and pallialia too where he repeats what we've said over and over thousands of times...drives me bloody mental TBH!
Like he'll ask 'what's the time' constantly but what he's really asking is 'where am I supposed to be at this space in time, help me, I'm confused about what's happening next' IYSWIM.
There a loads of books too about FXS and also the society do a video for about £5 (probably a DVD nowadays!) which I found very helpful, only about 20 mins long.

unpa1dcar3r Fri 05-Aug-11 12:51:33

bites his thumbs and sides of his fingers until they sometimes bleed. Can not sit still for long, always wriggling, shrieks with laughter or general over excitedness at what no-one else appears to find entertaining.

Sorry keep seeing new things in your post!
youngest has warts on the back of his hand and thumb where he bites, eldest has like excema type skin and warts where he also bites his fingers. (Other conditions bite elsewhere, like maybe their wrists and there's one where they pull their fingernails out- thank God our boys don't do that!)
What you wrote here typifies my youngest to a T.

unpa1dcar3r Fri 05-Aug-11 13:00:00

Sorry again I'm not trying to overwhelm you but knowledge to what this condition entails- if indeed this is what your little lad has- is, IMO imperative.
Our children are the most complex little people and don't tick any regular disability boxes, the more you know about it the more you can educate those who are 'supposed' to know about it but most often don't have a bleeding clue...you're his mum, you know best and the more education you have into this condition- if it's that- the better all round for you and your whole family.

Claw3 Fri 05-Aug-11 13:04:11

My ds can write but has poor letter formation & spacing is terrible, capital letters in the middle of words and he still reverses certain letters 'c' for example.

Ds struggles with change, sequencing, instructions, and cries easily. Anxious and generally awkward in social situations, he gets anxious about things which would be very trivial to us. Ds eye contact is limited.

Ds scratches his skin until he bleeds and lots of vocal of vocal tics and head shaking. He can not sit still for long, always wriggling too and shrieks with laughter or general over excitedness at what no-one else appears to find entertaining. Last night for example he had a fit of the giggles, rolling around on the flooor for about 15 minutes because i said the word 'sleep'.

Ds repeats phrases or actions he sees on TV over and over. He talks to himself constantly

Ds is often distracted in his own world when he's meant to be working at school, he can do things when he has someone with him, when left alone it all goes out the window.

Ds's has hypermobility in all his joints, and is very rigid and upright when he walks. Struggles with finer motor skills, he cannot unscrew a lid, do up buttons, tie shoe laces etc. He cannot ride a bike with stablisers. He also poor muscle tone.

Ds likes the idea of friends, but struggles with it.

Ds had glue ear from the age of about 1 year to 3 years old, which was blamed for his speech delay, . Speech is still not what it should be.

Ds also has a curve in his spine. Ds suffers with incontience issues too.

My ds is 7 years old. He received a dx of Autism, after first ruling out FX, when he was 6 years old. The symptoms between FX and ASD seem very similar, dont that?

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1980Sport Fri 05-Aug-11 13:07:57

(Hi unpaid, knew you would be about soon!)

I just want to be a voice of caution! My DS's symptoms typify Angelman Syndrome and we were convinced he would receive this diagnosis. Cue lots if googling, joining FB groups, getting in touch with their associated charity etc. Three months later we receive a negative result. Obviously unpa1d you know a lot more about FXS than me but so many of the syndromes have very similar symptoms and overlap.

Really all I'm saying is try not to get too ahead of yourself - we did and then found ourselves having to disengage from groups we had joined.

unpa1dcar3r Fri 05-Aug-11 16:07:46

Hi Claw, was your son blood tested for FXS?
The differences I think are probably more physical e.g. the high pallette which they all seem to have (I don't even want to go down the road about mosaics etc as it's mind blowingly complicated- not something I've needed to investigate thoroughly as mine are not mosaic)

Hi Sport, yes I did mention in posts he may well not have this, there are so many genetic conditions out there which are similar, many not even diagnosed or recognised yet, and there are some similarities with autism- many with FXS also have autism (like my two do) and that's why people often mistake it for autism without the blood test which is a DNA thing now so little chance of mistake.
Years ago it was a chromosome test which did make mistakes- can you imagine being told they didn't have it when they did or vice versa- or girls being told they were clear only to go on and have FXS kids! Awful.

I won't pretend to be an expert- far from that! I do think though that it's worth investigating a few options if possible- without weighing yourself down with it might be this, it might be that...or recognising symptoms in many different things and panicking when it might be none of them!

I think the key is to get the results asap- not easy cos they have to 'grow' it in a machine apparently (this is why my girls took so long cos the bloody machine broke half way through); the waiting is awful isn't it, not knowing...

The thing that struck me was 'No Sleep' asked particularly about FXS and I get the impression this is the only thing her son is being tested for which made me wonder...my eldest was tested for a whole range of things at first inc CP! They didn't even mention the FXS test so it came as a complete shock to receive a 4 line letter telling me he had this, I'd never heard of it and didn't know if it was life threatening or anything, no internet then and it was a saturday (I'm sure you can guess the horror/shock etc.)

Claw3 Fri 05-Aug-11 18:40:15

Hi unpa, yes he had a blood test for FXS and they tested at the same time for 2 other genetic disorders, the names of which i cannot remember at the moment, without looking at the report.

The Paed suspected that ds had Autism, but wanted to just rule out genetic disorders before dxing with Autism, it appeared to be something they did as standard in this area, as a precaution, an elimination process of disorders with similar symptoms. Perhaps the OP's paed might be doing something similar, do you think?

unpa1dcar3r Fri 05-Aug-11 19:04:42

It's very possible Claw. It should be standard practice to eliminate other conditions if autism is suspected- esp if there is more than one child or a family history etc- but I think some LHA's don't do it as standard which is why some go undiagnosed or diagnosed with autism alone.
Your Paed was being sensible!

Often what happens is an older female child (or cousin, neice etc) will have it but will go undiagnosed because they are milder and it is only when a more severe boy comes along that the older girls get tested. It is a shame because the poor girls go through life struggling with various different things without them or their parents knowing why they are like this.

It could well be this with NO Sleep, her paed being sensible! until she gets the results I guess it's limbo land. But I believe forewarned is forearmed so at least she may have a little understanding if it is this.
That's just my opinion of course and everyones different, some don't want to know anything until (or even after diagnosis) but I like to meet problems- or potential problems-head on- Maybe it's the Carrier in me lol (we are pretty feisty bints!!!)

1980Sport Fri 05-Aug-11 19:05:15

Unpa1d - you're most definitely the FXS expert compared to the rest of us and I remember you saying before how you got your DS's diagnosis and I can't think of a worse way to receive such results!

I think for the OP I just wanted her to be a little bit cautious - is his Paed really thinking Fragile X or do they just want to rule it out. It seems to me they start with the most common cause of whatever the main symptoms are then work their way down the list. For us it started with muscular dystrophy, then fragile x, then CP (MRI scan), then karotype, then microdeletions and so on... After the FXS test the Paed said, 'I didn't think it was you know'

Although I guess with the OP's DS being that bit older they have more appearance wise to go on than they do with a baby.

1980Sport Fri 05-Aug-11 19:07:47

And totally agree that forewarned is forearmed, I just got myself a little too involved before our own non diagnosis of Angelman.

unpa1dcar3r Fri 05-Aug-11 19:12:13

Hi Sport, yes I wonder if her paed has some knowledge of FXS and suspects it (maybe she did check his physical features?) or whether she is just being cautious.
It is easier i suppose when they're older from a physical perspective as their features are more pronounced. They don't all have all the physical features (as I've said one son has this, the other son has that, feature) but the paed would still need some knowledge I would think about physical features if she was assuming this was what it is- otherwise again, she is simply ruling it out.

The only obvious thing with my eldest was his ears! I remember my MIL once taping his ears down (yes she really did that) as she said it was cos of the way I held him when breast feeding, making his ears fold over, which is why she thought they stuck out! I did laugh-and cringe- when he came home with bloody selotape on his ears, poor little mite! When I gently took it off, he had a little bald patch sad

1980Sport Fri 05-Aug-11 19:22:08

You're kidding me?!?! Nightmare - what on earth did you say to her?

I know the drs are stuck between a rock and a hard place but it would be nice to know if each condition tested for is a genuine consideration or just a ruling out exercise. DS's neurologist was very much 'oh he's so Angelmany!' she phoned the Geneticist almost excitedly to check that he was testing for AS, then wrote to us again confirming AS possibility. Then when we met the Geneticist after the test result he said he wasnt overly surprised at the negative result he really just wanted to rule it out!!! Aaaahhhh!

unpa1dcar3r Fri 05-Aug-11 20:11:56

Oh that must've been hard for you Sport- and I would say rather unprofessional of her in her capacity as an 'expert' medical person!

I don't know much about AS- did watch a docu some time ago and they seemd to vary enormously so I suppose like with anything, if they've got a bit of this or a bit of that it's a possibility but like I said to NO Sleep there are soooo many genetic conditions with similar traits and of course many conditions are co-morbid (the boys have autism too plus complex tourettes, adhd and so on...) But all as a direct consequence of FXS! If they didn't have that they wouldn't have the co-morbid conditions IYSWIM.

I would say thought that with FXS more is being discovered about it everyday and the wealth of information on this particular condition is second to none which is very positive. They did actually discover a cure I believe some time ago, tested on mice. Sadly it cured the FXS but killed them!
So that's a work in progress, and I doubt it will be achieved in my boys lifetime. Sadly.

As for the MIL, I think I was too shocked to say much at the time, and very vulnerable too with a son who did nothing but scream day and night, plus my older 2 who were only young then so I was 'worn out and fredbare'!
I think she still finds their disability hard to accept in many ways and thinks they can do so much more than they can in reality. Also that we exaggerate things. And that we should be grateful for any little help we get as other parents don't get it and I am simply a parent of course, not a carer!
I've adopted this plan; two ears, one for going in and the other for going out! wink

Claw3 Fri 05-Aug-11 20:13:00

unpa, we had family history, my brother was severely autistic and during paed appointment i was also asked about my parents and the fact my late dad was a math professor, paed suspected he might have been on the spectrum too or been passing on a genetic disorder i suppose.

Im the same as you, if they suspect something i like to read and get as much info as possible, although i didnt read about FX as paed was just ruling it out, so you are indeed an expert on FX, compared to me!

shock at the taped back ears, poor little love smile

glimmer Fri 05-Aug-11 20:14:13

Hi NoSleep. As Sport and unpa1dcar3r said, many of the genetic conditions present similarly. There is also the problem that some things can be clearly confirmed or ruled out (and FRX seems to be one of those), but that some of the syndromes can have various genetic reasons and even if they don't find the
most common genetic setup, it could be an uncommon one. Cystic Fibrosis and Noonan Syndrome can be caused by different genetic make-ups if this makes sense. We have a support threat on this forum, you are welcome to join us there!

1980Sport Fri 05-Aug-11 21:08:18

Unpa1d - I'm still learning the in one ear out the other skill, my mother has the capacity to reduce me to tears (although never in front of her) with her cutting comments and belief that DS's delays are a direct result of my inabilities as a parent sad

<waves to Glimmer>

We're becoming genetic experts! (unfortunately)

unpa1dcar3r Fri 05-Aug-11 21:09:52

Hi Claw, yes I would imagine they would want to rule out FXS if a family history of similar. But is it true that autism can also be in families, I know many firneds with autistic children who swear blind their husband or another relative is similar.

It will be interesting to learn of No Sleeps result. I guess it will take some time but stay in touch No Sleep.

Evening Glimmer! smile

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