Fragile x syndrome.....?

Question

as i have said before my son has this syndrome ,but my 4 daughters also has it ,but to a lesser extent.

the reason i have posted this question is that there are children and adults who have this syndrome and are going about un diagnosed.

although the syndrome is not life threatening people are only put into the bracket of either children with special needs or if your an adult you have a learning disability.

if before you leave your thoughts,maybe you could google fragile x and have a quick glimpse about it then come back leave your opinion on what you read.

but what i will say about the syndrome is that it is the second most common syndrome after downs..and if we can raise awareness then we can help others in the future....happy reading.

i would also like to apologise for posting this in the scottish football forum it`s just that most of you would be aware of my son being disabled but not aware of what his diability is .thanks for taking time to read this posting...mr struth

Answer 1

never heard of it struthie.looked it up and honestly shocked at the characteristics of the disease.hope joe is well.will pray for him as always.keep the faith struthie

Answer 2

Hi Struthie, I as a nurse and many of the friends I have who are nurses in Lanarkshire have little or no knowledge on this subject. However I have been doing some studying and have been to the local Uni and managed to find some papers written on it. Not only does it go un diagnosed but like Downs syndrome it can be detected early on in pregnancy. So for what it is worth anyone on the forum who is planning pregnancy can ask for a CVS (Chorionic Villus Sampling) test where cells are taken from the placenta where it attaches to the wall of the uterus and this can be done really early in the pregnancy. Also Amniocentesis will pick up Fragile x Syndrome or Martin-Barr syndrome.

Also lots of research centres in the US and there in Britain lots of work been down in London on this syndrome. There are breakthroughs in genetics every day now.Obviously too late to reverse this in Joe and your daughters but hopefully there will be a breakthrough soon on the prevention of this.

Lanark has an excellent facility for kids like Joe that I did some work in many years ago, a very happy time but very humbling place to go to it makes you stop and  realise how well of you are in this life.

I hope that you and your wife get lots of help and support from Lanarkshire trusts and also some respite care for Joe, no matter how much you love your kids you need some time for yourselves.  Also over here I work with one of the local GP's so next week I will see what he knows about this subject and hopefully do an awareness day in one of the local Universities.  Anyway Mr Struth I hope Joe and the girls keep well and continue to be a source of happiness to all the family.

Answer 3

Read about it.  To be honest i had never heard about it.

How can it go undiagnosed though, surely you would notice something like this?

Answer 4

I also find it very interesting, I had vaguely  heard of it  before but was ignorant . I have only known about downs and autism, knew it was a chromosone  disorder, but I have read about the symptoms now. Having 5 children with the same thing must be very hard , and you and your wife are truly parents in a million. It does seem to affect boys worse it says on the web. And yet all it took was one simple blood test. jeez, just shows you. I hope they are all keeping well and getting the treatments now that helps them lead full and happy lives ((hugs)) to you all, esp. Joe if he's there just now, he's one lucky young man for having YOU as his dad .

Answer 5

I googled it Mr Struth..must admit I have never heard of it before...but as I told you my son had stevens johnson syndrome..and I dont expect people know much about that either.

I do agree that we all need more awareness of things like fragile x..and have a diagnosis as like you say then the correct services can be put in place....this must take a h**l of a lot of yours and your wifes time and I for one take my hat off to you..Joe and his sisters are lucky to have the kind of parents that you seem to be.

All the best Mr Struth in all you do to encourage awareness of this condition...and may I add we may support different teams but when it comes to kids we stand together xx

Answer 6

I have read about this syndrome and how if left unchecked, can be mistaken for something else. I have admired your courage throughout the time I have known you in here. Joe is hard work, I am sure but you love him and soldier on regardless.

It is a great thing to bring people's awareness to this Struthie and there's no need to apologise mate. I am going to donate money to the charities involved in researching this illness, I hope it in some small way can help others in need.

Give Joe all our love and I pray you find the strength to carry on doing what you do best.

Answer 7

i  have a friend with 2 girls with fragile x syndrome  both have autism to ...but i was not awarer it affected mails to thank  to be honest i never googled it but will now good info hu

Answer 8

well well i am sorry to hear of this,and i found something that maybe of use

it's on google and the website is

www.autismvox.com/symptons-offragile-x-r...

i read you were based near bulford(ward or kiwi)

hope this info gives you strength mate

all the best to wee joe

Answer 9

I work in a primary school and have done for 13yrs and although I don't have direct contact with kids I feel I should have heard of this. But after reading up on it I have found it frightenly common.I think it would be a good thing to make the public more aware of all learning dissabilities.

P.S.It looks like you have the support from the full forum.

Answer 10

Cant add much more to what has already been said by everyone else. I wish you and your family all the health in the world x

Answer 11

i must admit struthy bhoy i had never heard of that disorder before i googled it as u asked it seems you and your family have their hands full i also agree with the oracle that u do not need to apologise to anyone on here i only hope joe continues to get better

Answer 12

Read the site on fragile x mr struth and hope that awerness can be raised to help all people concerned.

You also made the point about quality of life and what I have seen from you is that joe is very well loved and your a great dad.

Best wishes to you and your family.

Mr struth,down here they have one day a year called Special Rigs for Special Kids.They get all types of big rigs, trucks,buses and even the odd ice cream van and bring the kids thru town and all meet up at a certain place with BBQs and it raises awerness about 2 or 3 differenttypes of illnesses.The truckies donate their time every year and the local supermarkets donate the grub.Might be something you could do where you are.Its been going here 6yrs now and gets bigger every year.Last year they raised over 50,000 dollars plus its a great day out for the kids.Cheers David.

Answer 13

will have a look struthy as i havent a clue about the condition.very ignorant person  obviously.hope life treats you all well and the bairns live as "normal" life as posible.kids can be trying at the best of times but whatever and whoever they are ,they are.im sure they are loved as much,probably more,than most other weans........on a lighter note,was  actually born in devizes when the old man was in the royal artillery.but keep it quiet,might get accused of being one of them.

Answer 14

Another ignorant one here am afraid and had never heard of it.Never apologise for raising awareness about anything like this it's a good thing that people learn and understand about things like this.

I really can't find the words to say what an amazing job you and your wife are doing when it comes to your kids and there is nothing I can say that hasn't been said already in here.

Will definetly let make other people aware of this and hopefully more kids can be diagnosed as early as Joe was instead of parents being fobbed off with the usual oh he has a learning disability etc

Answer 15

post away mr struth..if it raises awarness then all the better..to be honest i had never heard of it until you mentioned it and i did a bit of reading up...so if it opens up peoples minds then fire away...regards to you mr struth..