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

Typed up a long response the other night and phone switched off and I lost it!! I was too tired to re-type!

No Sleep will maybe come back on again once she's got some results!

I wonder about people who work in so-called caring professions. Is it the system that makes them like that? Surely they don't go into their career with some of the attitudes that many of the posters here have come across! You can't win! Slated for being on benefits, slated for not coping if you're trying to work and care, punished financially for trying to get a better job!!

I was due to return to work on Monday, I requested a flexible working pattern for 6 months asking could I work 3 days and use my accrued holiday leave to cover the remaining 2 days (enough leave to do that for 26 weeks) it was turned down so hey ho I can't go back, GP has extended my not fit for work form for another 8 weeks. They'd rather pay me full time OSP than have me in working 3 days! :(

Oh no, how can they refuse? I think some is up to the discretion of the employer but I know carers in employment also have rights to flexi working. Look up the 'Sharon Coleman' case on google...she was refused flexi working and took her case to court and ended up taking it to court of European rights or something and she won. Afterwards it became a statute in, I think, the social security act, of discrimination by association- in other words they were discriminating against her for having a disabled child who she needed to be flexible for sort of thing.
I too wonder about these people; I think they go in with high hopes- most of them anyway, you'll always get the odd one on a power trip- but get sucked into the crappy system and bureaucracy...
You'd think they were funding SS out of their own bloody pockets half the time! Shame on them.

I know - in the short time I've been part of the 'SN world' I've learnt so much and I do think about new parents coming up behind. I'd loved to have had another parent to sort of hold my hand and support me, guide me, flag up things etc! Not an organisation, not a charity or SS just another parent! Not really sure how it would would work, just musing really but I do think it's a shame others have to learn the hard way too!!

Yes - I spoke to my union rep and he told me about the Coleman case! I just want to get back to work, for them to give me a chance at least. I can now appeal - I'm going to appeal to their better natures and hope they see sense!

When does your daughter head off? Here's to a calm and enjoyable week! :)

I was fairly lucky there as my then health visitor who was brilliant, got Crossroads to come see me and they offered a volunteer who had a very severely disabled daughter (she has since died) and she was brilliant; gave me loads of advice and benefits/charities to go for etc...she was so knowledgeable in disability issues and really helped me loads. Knowledge is definately power as far as disability is concerned I think.
I also had the Fragile X Society who too are absolutely great (have a conference on saturday) and sent me loads of info etc about FXS.
This is why I suggested them to 'No Sleep' as they're so informative and helpful (and friendly, normal people!)

Eldest DD goes off in November...I start college tomorrow PGCE and partner moves out tomorrow too...so all in all feeling a tad shite right now haha.
Do google the Coleman case, even if you don;t get anywhere at work it's handy to know where you stand legally.

Have a good week Sport...

Just a little bump; sorry guys but if it goes away I'll lose it! Hmmm me? Lose it? Surely not

Hi! Well how did your first day at college go? Does it feel strange being a student again?!

I've had a hectic week, I've been filling out my appeal to my flexible working request. I looked up the Coleman case, so basically I've resubmitted my request under the DDA as a reasonable adjustment to help me return to work! So we'll see what happens!

I'm also heading of to Newcastle on Saturday to run the GNR on Sunday - can't wait. I'm very excited at the thought of a nights uninterrupted sleep, my DS2 is a nightmare hence why I'm on MN at this time!!

I'd read on another thread that you and your partner had separated, I'm really sorry to hear that! Even if it was your decision, it still can't be easy :(

You can put this thread on your watch list which will make it easy to find!

Grr 3rd time lucky, dunno what's going on with this computer today!
thanks for the tip about watch list, didn't know!
1st day didn't happen- the information dept (!) gave me the wrong date and it's next monday. 70 mile round trip for pretty much nothing although I did sort some stuff while there.
What's the GNR?
My 1st love was from Newcastle, and oh how I still lurve that geordie accent! He was from a place caaled West Denton- now I remember that after...gosh 25 yrs later!
Still wonder about him occasionally, he's probably not georgeous anymore haha, probably fat n bald.
Enjoy the sleep anyway! I know where you're coming from there Sport! I was up at 5am this morning.
Ironically the boys slept til 6 but I'm so used to it now after 14 yrs.
Yes I have separated from partner of 18 yrs. Not easy even though my choice. He's stayed local for the boys sakes.
Think it was a long time coming really.
Off to coffee morning in a bit, have managed to get us a speaker from CAB so hoping people turn up. Not really been on top of reminding folk at the moment what with one thing n another. Been quite popular so far though.
Have a great day and enjoy your weekend.
I'm off to Birmingham myself for a Fragile X conference.

Hi!! Just recovering from a bug :( DS2 brought it home from the nursery - not pretty!!
GNR - Great North Run! Loved it! Yes the Newcastle accent is very nice - they couldn't understand a word I said mind you :)

How did the conference go? We're hoping to get to the Unique conference next year!

Hi sorry to hijack the thread, Ive found it whilst doing a search for fragile x.
My son is having a test for this next week and we should have the results by the end of nov.

He is 8 yrs old and has had no health problems up until last year when he had a seizure, he then had two more in the space of 3 months including a tonic clonic. He had a ct scan, mri scan and eeg. He was diagnosed with benign rolandic epilepsy in dec of last year and was put on medication. He had a few more seizures the following march and his meds were increased. He was all clear until recently when he had 3 partial seizures in one week, and I also noticed him falling over alot on his right side ( this is the side he has his seizures on).

Anyway we saw a different consultant to the one we had previously and he said he has markers for a genetic disorder. He has simian creases on both hands, a line going straight across, and he said he has a traingular shaped face with large forehead. However he didnt give us any indication of what he thought it was. So we googled and not really got anywhere.

I got the a copy of the letter sent by him to the geneticist and my gp and it says he has mild dysmorphism and has arranged for him to have karotyping and fragile x gene analysis.

Does anyone know if he is just testing for the fragile x or other things aswell..not quite sure what karyotyping is?

I only got this letter yesterday, and had a look at the support website etc.
DS has a short attention span, figets alot etc but I thought this was normal for a child really. He went through a phase of chewing his hand, and clothes but has stopped now, and this was shortly after he was put on meds so put it down to that. In fact alot of the signs that correspond to this syndrome Ive only noticed since the epilepsy started and he was put on meds so put it down to that.

Im unsure whether maybe only the signs are showing now as he's getting older? Surely if its genetic something would of been spotted earlier.

The more I read the more certain things make sense.

Are any of you mumsnetters still about??

Hey - Unpa1dcar3er will be along soon, she's the expert!

In the meantime - karyotyping is looking at thd chromosomes under a light microscope to check for large obvious abnormalities - it is thd first test ordered when a genetic condition is suspected. However there is a much more detailed test now available called the microarray which looks for smaller faults - www.rarechromo.org/fpdl/LittleYellowBook.pdf this is a really good book for describing all the various tests.

Fragile X is one of the most common genetic conditions affecting boys - and again one of the first tests done often to rule it out rather than a real coonsideration. Hopefully, Unpa1d will have a better idea on your Paeds thinking from the symptoms you described - is it a possible or more a ruling out exercise.

HTH

Thanks 2011RWC,
So does that mean they are testing for other things aswell then?

Things Ive noticed over the past few days, and thinking back over the past year,
Inabilty to keep still, unless he is playing his computer.

Runs everywhere, even around the house, Im forever telling him to slow down, and commented on how he is the only kid in his year group to still be running to school and back,and like some of you have said, arms fly everywhere.

Getting homework done is ALWAYS a battle, but if its computer based a breeze.

Struggles a bit with handwriting, but is average in everything else and top of the class in maths.

Likes routine

Has lashed out and throws proper tantrums, cries over silly things, but only been doing this since he has been on medication. I remeber one time his sister put a book on top of one of his and he screamed and got into a right emotional state over it.

Chews base of thumb sometimes, went through a phase of chewing his collar, sleeves etc.

Can sometimes struggle to get a sentence out.

From what others have said here, he does similiar, looks at people through corner of his eye. When speaking to him or telling him off wont look at you.

As for his appearance Ive never noticed anything but now can see he does have a large head, but then he is very small..one of the smallest in his year group and I thought his body just needed to catch up. He eats fine.
He has quite a large jaw I suppose, and his teeth seem big, but again they are his adults teeth just come through and his face needs to catch up. Ears are normal. Like I said he has the simian lines on both hands, nothing on his feet. Cant really tell about the high palette....what is considered high??

Also his dad found some links to epilepsy and this and discovered that the type is usually confused with bengin rolandic as they show the same on an eeg and the same type of seizures, this is what he was first diagnosed with. It all seems to be tieing in together.

Im also interested in how it may have affected me being the carrier. Ive read what you've said on here and can see similarities. I also sit with my leg under my bum or crossed legged at the dinner table, legs always bent up when on sofa. I have always been slim, even after two kids Im about 8 st at the most. Ive suffered extreme shyness all my life and social anxiety. Recently I have been suffereing anxiety/panic attacks in certain situations. Are there any other defiante things that could be assiocated, cant find much about carriers on internet.

thanks for your reply 2011, and Unpa1dcar3er...where are you?

Bumping back up for Unpa1d

From Bizkid - the symptoms are very similar to those unpaid has described earlier in the thread. Ive read about two boys diagnosed quite late on with Fragile X and often the facial indicators for any genetic condition don't become apparent until a little older. The karyotype would indicate that they may be looking for other things too - but they also might not have anything in mind again it could be a ruling out exercise. My DS had both a karyotype and FXS test but his Paed said she wasn't expecting any abnormal results!
It would be worth asking for a referral to a geneticist.
The fact that this is only being picked up now would indicate that it is mild especially if he's managing in MS school as FXS often includes learning delays. I won't want to comment on carrier characteristics because the only stuff I know I've learnt from unpa1d - she will be along soon!

Bump

Hi Sport, and thanks- how are you today?
Sorry Bizkit, not been on today...been up to my eyes.

Anyway the symptoms you describe could well be associated with FXS but it would be irresponsible of me to assume without knowing more (and I'm not there to see your son- if i could see him I'd more than likely spot it if he has it)
It's not usual to be diagnosed at age 8- my friend has 3 boys with it, and didnt know about the older two (now 30 and 28) until the younger son (now 18) was diagnosed 12 yrs ago!
Often once one child is diagnosed it leads on to other members of the family being diagnosed too-cousins, aunty's uncles etc...

It is the most common cause of inherited learning disability! and more people are being diagnosed everyday, people who have been put down as being autistic etc...

I assume you've tried the fragile x society web page (fragile.org.uk)? If you ring them (weekdays) you'll speak to someone lovely and helpful (they all know me there!)

On FB we have an FXS page and we can all write on it, ask questions etc..one the last couple of days has been about us carriers and we are all so similar it's uncanny- even down to our need to be in control and ordered, hanging our washing out certain ways, not liking to be sat 'into' a restaurant but with our backs to the wall, not liking people walking upstairs behind us, gynae problems, IBS and the like, bone problems later (e.g my mum has chrohns and also eosteoarthritus, I am about to have a bone density scan)
We are socially anxious but either retreat into the background or over compensate by being loud and bubbly (that's me folks haha- people are shocked when i say i lack confidence cos i appear very confident but inside I'm shaking)
So if you're on FB maybe check out the fragile x site on there. We're a nice bunch haha.
But as yet there is not a lot of official info about carrier women in that way.

The high palette; if you can pin him down between running (maybe when he's asleep) his palette will be higher than usual (compare with your partners perhaps, not yours as yours could also be high like mine is)- it will also be narrower, hence the cluttered teeth- my boys have had two rows, youngest about to go have 3 removed in hospital soon. Youngest was born with a tooth and both had at least 10 by 6 months (and I BF til then ouch!)
He will be very endearing and charming, cheeky too with a lovely sense of humour- slapstick is very popular amongst our boys.

The high forehead and longer face is a symptom but remember all kids have various symptoms and often the longer face is not apparent til they're older. About 20/30% have epilepsy.
The ears might not necessarily be big and sticky out but may be 'cupped'.
Biting the thumb/forefinger and back of hand is pretty much what they all do; my eldest has callouses on his 1st finger, youngest has hard skin on back of hand.

If he has it it will mean that your family will need testing, although this is personal choice but did you say you have a daughter? it could have implications for her if she's a carrier too. She might not be (my girls aren't)
Also the wider family may want testing.

Depression is very common amongst carriers and also our boys when they get older. I don't get depressed though- a nice pik of Johnny Depp and some dairy milk and i'm happy as a sand boy! But my mum has always had clinical depression.

If I can help in any other way please don't hesitate to email me on here...I will do what I can.

And Sport I am defo putting this on my watch list right now!!!!!

Oops sorry I meant it's not unusual to be diagnosed at age! Doh

Oh sorry again, some of our boys have something called Macro-orchidism which basically means he has very large- for his age- testes and willy. My older boy has this but younger hasn't.
younger has the simian creases but older boy hasn't.
So it's important to remember that while they all display characteristics they don't all have all of them. IYSWIM.

Hi unpa1dcar3r, funnily enough I was just looking at the fragile x groups on FB, which one is the one you use, there's quite a few.

The only reason he is being tested was because his consultant for epilepsy, noted these mild physical features, I just think we are lucky to have a consultant who seems quite on the ball!

Do you think the other symptoms show themselves more as they get older aswell not just the physical. We have never had any other issues up until recently, and the epilepsy only started a year ago, and boy was that a shock!!

Yes I have a daughter aswell who is 5, she hasnt got the simian creases, but my two look very much alike.

Errm yes he does have a big willy,lol, not sure about the testicles, not sure whats normal, but never thought they looked too big or anything.

Aswell as the shyness and social anxiety, I also have some sort of hormanal inbalance as Ive had acne since my teens and was tested for pcos, I read today that female carriers of the premutated gene have a risk of premature ovarian failure due to high levels of FSH, now I dont really know the in's and out's of all the hormones but its might explain alot regarding myself. I think I have been depressed at times, but never thought it bad enough to get help. My mum suffers depression.

I also dont like my back to a room, people behind me etc.

I suppose theres not much I can do till I get the results.

Good morning Bizkit, I have emailed you.

Thanks unpa1dcar3r, Ive sent a reply :)

Glad you both caught up with each other. Reading what you've written Unpa1d highlights again for me how lonely and isolated we feel with no DX. The new SWAN group is great for support but all of our DC's have very different symptoms (with overlaps obviously). Anyway off on a tangent. Hope you are well and your course is going well too! Not long until DD is off? I'll be here with wine/chocolate/doritos....

Stick around Bizkit - hope you get some answers soon and the wait is not to agonising!!

Hi Sport, Good to hear form you. I can only imagine no DX. I've have friends with similar problems; general LD, Unspecified etc...at least we have the society, and it's becoming more well known the more it's tested for.

Yes DD off in about 3 weeks ; sat here with her now putting the world to rights and she's asked me to go out for a drinks tonight with her and her friends from uni, as Ex away with boys at his mums...so I can go socialise and be human for a while!
So i might be incoherent a bit later and probably half dead tomorrow

How's you?

I had a letter from the genetics clinic saying my sons dr has requested we have an appointment with them...I have had no results yet, but Im assuming if the dr has contacted the genetics consultant he must of had some positive results back? Im reading it that way :(

Hi Bizkit.
I had to read this a couple of times; do you mean positive as in he has FXS or positive as in good news, it's negative?
Hmm I would definitely ring the genetics dept and ask them what the results are for starters. Not fair to expect you to wait even longer.

It's strange, this is the first time I've checked this thread for weeks and there you are!

Do ring them hon, you need to know I would think.
And also ask for an appt as early as possible.

Hi unpaId, I mean positive as in result, I dont see why he would refer me to a genetics consultant if it came back clear.
I rang the genetics dept to book the app and asked but she couldnt tell me, he has an app in jan though. I also rang DS consultants secretary to ask if he had results and she said he has recieved something back but it doesnt show what the results are on her system. He has an app with him in 2 weeks so I'll guess I will just have to wait till then, so frustrating, as his teacher knows he has been tested for this and is starting to ask questions and I can only say certain things my son does might be cos of this. He is falling over alot at school and though this is probably due to his epilepsy I really need to have a meeting with the school and the senco there to go through all this.

Oh poor you Bizkit having to wait even longer. I think I would push for an answer before the appt but that's me, I'm a bolshy mare!

Can they not put it in writing if they don't want to tell you over the phone? Or ask to speak to a geneticist directly.
I got my results for youngest over the phone and also for my girls with carrier status. They rang me with them.

It seems unfair to keep you hanging on when they know something about your child and you don't. Push that you need to inform school who are doing the right thing in asking questions about the condition etc.
Which hospital is it if you don't mind me asking. Mine was Guys and St Thomas' genetics dept and they were great. I had a lovely guy there who was so kind and friendly.