Fragile X testing

[MommyUpNorth]

I've just searched through some of the older posts on the Fragile X testing. DS is currently coming up to 14 months old, and today we've been told that they're going to start with this test. Up until this point we all thought he had a movement disorder along with various other development issues. As the movements are becoming slightly more 'normal', other issues are becoming stonger. I'm wondering if anyone else had a child tested at a young age?

I've got to say that this came out of left field a bit and I really didn't take it very well. I was fine when they said movement disorder, and we were working with someone and everybody was really positive... but now we've been hit with GDD in all areas of development and I just came home and cried.

Apart from the physical aspects of Fragile X, he matches most of the symptoms. Has anyone had a child that was diagnosed with this quite early?

I have not much experience that can help, but I do remember my DS having the blood test and them looking for some kind of marks on his body, and at one stage measuring his head. We eventually got a diagnosis of ASD, not fragile X, and I know how difficult this time is. The only thing I do have to tell you is that they seem to be nearer to finding the causes of fragile x, and there was an article not so long ago (Daily Mail or Times) about possible treatments for Fragile X (unlike autism, where they basically have no idea what causes it and therefore no idea how to treat it, apart from therapy etc). It is a really hard time, and I do feel for you. It does get a bit easier , but it never seems very fair! My DS has a hole in his heart and autism, but I think somewhere along the line someone gave him good things too - he is happy as happy all day long, and he is very very handsome and has a mummy and family who love him desperately. So there are always good things somewhere in the dark! Big hugs to you!

ds1 was tested for Frag X at 3 (he is severely autistic with severe learning difficulties). It came back negative. I think its a test they tend to do standardly with any sort of developmental delay just to rule it out.

I do know someone who had a child dxed with autism, and then tested for Frag X and found to have Frag X. She said that her child hadn't changed at all, but his diagnosis had and suddenly she was offered all sorts of services that she'd been trying to access for years! She seemed to see it as quite positive because it made accessing help so much easier.

14 months is a hard age as you don't know where you're headed and its hard to find people in the same situation as you. Coming home and crying is normal. I think I spent between the ages of 17 months and 4 sobbing (ds1 is 8 now and I don't get caught out very much now, but I still do occasionally).

DS1 was tested for fragile x when he was diagnosed with GDD. They ran a whole range of blood tests all of which came back negative. So we still have no idea what caused his problems
When DS was diagnosed it was as though a bomb went off in our laps, I had gone to to the appointment without DH and had no idea what was ahead. It's the only time he's ever had to come home from work and try to put me back together as I was in such a state. It took a long time to get through the intermittent tears & now it's an unexpected trigger that sets me off. at the time (he was just 3) the pead said it was impossibe to say where he would be in in a year of so's time. I have friends whose children have GDD and the ways in which they have developed from ages 1-3or 5 is so varied.

I just made sure I drew on the resources of people who were positive and steered clear of those who weren't. There was loads of input for early years and my advice would be to make the most of it as it's not so readily available once they get to school. Go gently on yourself for now though, think it's normal to have a good howl about it all.

A friend who is a retired Paed told me that Frag X is a 'big seive' = for most young children with GDD it is one of the initial tests done and rarely +.

DS had one at 20mths, Community Paed forgot to mention at our appt she wanted it done, just got the request through the post with Frag X written on it - nasty shock I can tell you. Called her office and she had gone on hol. So googled it (big mistake) DS had lots of the listed physical characteristics, inculding bilateal single palmer creases which I (nor any of the dozens of consultants we had seen) had ever noticed. He does not have Frag X.

Thank you all so much for the messages. I know that this may be just the start of a lifetime of questions, but just the week before everything was going well and we were at a CE school and I felt like things would be ok... and then we got home to 3 of his therapists at the house on Monday, an eye test on Tuesday and then the neuro development meeting on Wednesday which was started with 'I've made sure to book extra time so that I can thoroughly answer any questions'. I think my heart sunk at that point.

I think we've just had the biggest case of bad luck as he's got so many problems all rolled into one little boy. It started with more physical symptoms, so it really threw everyone off course for the first 9-10 months! I think as he's been working with the physio so intensively for a while, it's dampened down the movements so now the social side (or complete lack of it in his case) has shown through.

He had developmental delay to start with, and then at about 9 months it moved to GDD, and now they're not sure that it's a delay at all as there is no progress except in arm movement and sitting since his last appointment. Are there any good websites to 'teach' interaction/copying/social skills??

I know rationally that he is exactly the same as he was a week ago, but why does it feel like my whole world has just caved in!

He's got the best care really, and they've ordered more therapy sessions, and some extra therapists. They're ordering in more chairs and things, and extra toys to try and provoke an emotion. He'll have the first school multi disciplinary meeting in a couple months, but it all feels so unreal. There was no mention of any hope or positive story in the meeting where they used to say hopefully he will go down this path, or develop in this way...

Sorry, this isn't really a question about the orginal topic, but just a long whinge about how unfair it all is...

MUN,

You mention therapists - what type are they?

Also even with NT children whilst they are developing one skill (all the physio etc) others can halt or reverse.

My DS currently has both legs in plaster to correct his foot/leg/balance/walking problems - physio told us some of his other skill may temporarily be 'forgotten' whilst he concentrates on this area.

As I don't know what you have been through assesmentwise so far...Have you had a Griffiths Assesment? This is a developmental assesment to plot their developmental age against their chronological age. My DS first had this done at 20 months by a Community Paed (his develomental age was between 9 and 11 months in all areas at 20 months old, so 50% behind). It is a good baseline assesment, a stepping stone to measure future developemental advances against.

Has anyone told you about Portage? My DS was 20 mths and had no play skills whatsoever, he had to be taught from scratch by a very patient woman who came in weekly and taught us structured learing games. We were given lots of advice and support and set weekly play objectives - I cannot stress what a positive effect this had on my DS.

find your nearest Portage group here

You can self refer and do not need your GP to help, you just call and talk to them.

Good luck

We're getting OT, ST, & PT which is all that is available up here as far as I know.

Our physio gave us the same info about other skills being put on hold while concentration is in another area. He's been doing the physio now for about 8 months, and the other specialists don't think that the other skills have been 'put on hold'... they think they just aren't there.

I haven't heard the Griffiths Assesment mentioned at any of his appointments, but we meet with the pead in about a week so I will ask then. He's just had a week long assesment at a CE school, so I'm waiting on that report which may have some of that info in it.

It looks like portage is an England system. We're in Scotland and I don't think it exists here. We do have a 'play therapist' who is a nursery nurse and has sessions with his therapists and then comes to play/teach him for a couple of hours a week. It sounds similar.

Thanks so much for posting all of the info.