Any experience of Fragile X?

[littlemissbossy]

Do any mumsnetters with special needs children have experience of the genetic disorder know as Fragile X syndrome?
Any info will be much appreciated, thanks in advance lmbx

[Twinkie]

www.speechmag.com/archives/edeltuckwood.html

Got this off the web lmb - is from a parents perspective.

[Fio2]

I know someone who's son has it. Not much help. What do you want to know?

[littlemissbossy]

Thanks Twinkie for that link, i'm in the process of reading it
Fio2, I know a little about FX from the internet, but what i'd really like to know is how do you arrange a test? could you ask your friend how she had her ds diagnosed?

[Fio2]

well it is my aunties friend really not mine, I lied. He had a full chromosome analyisis, EEG, CT scan, amino acids test and they came to the conclusion it was Fragile X. He must be about 11 now. I think he was about 2 or 3 when he was diagnosed. he was missing milestones (globally delayed) and his behaviour was unusual and very demanding. Why do you know someone who is looking at this diagnosis?

[Jimjams]

DS1 was tested for fragile X- as all autistic children are tested down here. What do you want to know. It's important that a chromsome check and DNA test are done- sometimes without the DNA test it can be missed.

Children with frag X often show autistic type symptoms...... Often have mild/moderate learning difficulties.

[littlemissbossy]

Yes for my dss (aged 10). His behaviour has always been very challenging, possibly adhd/autistic. He is bright IQ of 126 but still has learning difficulties, we are currently having him assessed and he has seen a therapist for his behaviour which has in some ways improved but we really would like answers to the questions IYSWIM. Fragile X is something we discovered on the internet, he has MANY symptoms of it and we can definately make connections with his mothers side of the family too. Just don't know where to go next or if we're barking up the wrong tree.

[Fio2]

I would say if you feel definate that it could be a possibility mention it at your next appointment with the paed. Do you see a development paed? they should be able to arrange it. If not I would go to your GP and ask to be reffered to one and tell him/her your worries. Write down all the similarities beforehand so you dont forget and so you are taken seriously. I think if it is that much of a possibility they shouldnt refuse.

[tamum]

Littlemissbossy, you just need to go to your GP and get a referral. I would have thought you'd probably need to see a paediatician before getting genetic counselling and testing as they would want to check diagnostic features before actually testing. For what it's worth, I think it would be quite unusual for a boy with Fragile X to have a high IQ and to have reached 10 without a diagnosis, but I shall prepare for a flood of examples to the contrary

Jimjams is right, if they are going to do a test you should insist on a DNA test aswell as chromosomes, particularly because if this is what your ds has he must have a mild form I would have thought.

[littlemissbossy]

Thanks Fio2 and tatum. He hasn't seen a paediatrician only an occupational therapist. We've always had problems with him the worst being his extreme behaviour. We finally asked for help, having made excuses for him for years, because his tantrums were becoming increasingly violent. He was referred to a therapist as opposed to a paed because of his background i.e. losing his mother at a young age/possible attachment issues. Interestingly I've read from an American site that it is quite common for a late diagnosis and that in fact, people can reach adulthood before a diagnosis is made. Anyway girls, thanks for your help so far... I think a visit to our GP armed with the evidence is required.

[Jimjams]

What's his facial shape like? By about age 10 many children with frag X start to develop the long facial shape that is characteristic of frag X.

A lot of the characteristics of fragile X are autistic characteristics (although often without the learning difficulties). It sounds like you need to see a paed anyway. They could diagnose autism with or without frag x. If you get an autism diagnosis it is ALWAYS worth asking for a frag X check- as children with frag X generaly have a far easier time accessing services than children with dx of autism (not sour grapes- just told to me by a mum whose son was dxed initially with autism- given a chromsome check- negative. 3 years later a dna test revealed frag X and suddenly she said all these people appeared out of the woodwork- she couldn't belive it- his needs hadn;t changed but his diagnosis had).

[Jimjams]

My friend's dd (adopted) had a pretty awful start to life. Initially her autistic behaviour was missed because it was put down to attachemnt issues- but she did get diagnosed eventually.

[littlemissbossy]

When he was born and through early childhood he had a large head. As he's got older he does have quite a long face, certainly longer than his dad/brother. He also has nasal problems which apparently can be linked. Interestingly, as I've already said, a number of children from his mother's side have had other problems with learning, spinal, palate, large heads/prominent foreheads and his cousin (girl) has a very long face (her son had problems at birth relating to chromosones)... I had all their photos out yesterday. Is is me or am I just looking for an answer?

[busybee123]

frgile x website

[Fio2]

actually LMB it is one of the things they ask you when you go for genetic counselling, which we are going for atm for a diagnosis for our daughter. They ask about family history of illness's/conditions and look at unusual features. Our genetic doctor also asked for photographs of family members when they were the same age as our daughter, and took photos of our daughter too. We have only had a few appointments and we still havent got a diagnosis but in some cases a genetic dr can diagnose on the first appointment with tests to follow. I hope you find some answers, 10 yrs is a long time not to have any answers. Our dd is 4 and 'not knowing' is bad enough now

[littlemissbossy]

Thanks everyone for your advice/reassurance. I think he needs to see a paed too, but the therapist told me "this is the easiest way, long waiting list, etc". Because of his background he will obviously have some issues of attachment, but I know there's something more.

[Davros]

I always thought that FX basically presented as autism but the underlying cause is identifiable. A boy at my son's school has it. We had a test with a blood test (when he was sedated for something else). One thing about my friend's son and that I've heard elsewhere is that he has quite strange hair, like a gonk's iykwim! I'm not aware of any other physical features but then no expert either.

[littlemissbossy]

strange hair WDYM?? I've got bad hair today

[tamum]

It does sound quite like it, LMB. I hate to be rude, but does he have enlarged testicles? Macroorchidism is very common in FRAXA, not completely diagnostic, but quite suggestive. I know autism is a key feature, but I wouldn't have said that Fragile X was really equivalent to autism, it's the physical features and mental retardation (sorry to be non-PC) that are key. In the discussion about use of words like disabled the other day it was actually Fragile X I was talking about when I said I often have to use the term "mental retardation" in a scientific context. I have never that heard about hair!

[littlemissbossy]

it's ok tamum, you're not been rude, but yes he does!! in fact, we've always laughed (between ourselves) about him been well endowed ... "one day, he'll make a girl real happy"

[Davros]

Well, the hair thing is purely hearsay but the boy I know has quite coarse nylon--looking hair, like a gonk as I said! Then someone else told me this was because he has FX and I'm sure I heard it somewhere else but it may be a load of (large) b~ll~cks!

[tamum]

[Fio2]

bloody hell davros I thought it was only my husband who still used the word gonk!

[Davros]

I did wonder if you young uns would know what a gonk is..... think of Bits & Bobs if it helps.

[littlemissbossy]

glad you think we're young uns (if only)

[tamum]

Sadly I am v. familiar with the term gonk