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Autism/fragile x

(16 Posts)
Thankgoodnessforcheerios Wed 05-Mar-14 20:20:54

Hi I hope this isn't a silly question... my son is having an assessment for autism next week and after doing a bit of research, if I knew nothing about autism I would be saying he must have fragile x. Would they assess for this automatically at his appointment or will I need to mention it.

2boysnamedR Wed 05-Mar-14 20:40:58

My pead has looked at facial features etc but nothing unusual seen. However I have two boys with sn so now the baby is having genetics testing next week.

Thankgoodnessforcheerios Thu 06-Mar-14 08:22:16

I suppose what I am asking is whether they will do a blood test on the day as this is the only way to diagnose? DS has never had a blood test and I am trying to be as prepared as possible. Or whether this would be a whole other referral and a different professional??

Levi174517 Thu 06-Mar-14 10:26:23

My DS had a blood test to check for fragile X and other chromosomal abnormalities as part of his journey to an ASD diagnosis. I think they explore every possibility.

If your DS needs a blood test its really not that bad. I got the GP to prescribe special cream - I can only recall it was called magic cream. You rub the cream on his arm an hour before the blood test and cover with cling film. It numbed the area. DS then sat straddling me and watched one nurse blow bubbles over his left shoulder while the other took blood from his right arm. All over in seconds and DS wasn't even aware they'd taken blood.

Don't know why I fretted about the blood test for weeks

2boysnamedR Thu 06-Mar-14 10:41:50

I saw my pead last week and she talked about genetics testing four months ago. She gave us the paperwork but we couldn't get it done on the day as we need to leave the cream on for a hour and book a time slot. I'm not sure they would do it there and then.

Thankgoodnessforcheerios Thu 06-Mar-14 10:54:03

Thanks 2boysnamedR and Levi174517

He may not even need it! Perhaps I should stop fretting

chocgalore Thu 06-Mar-14 11:07:49

we had to push hard for a referral to genetics. I don't think it is done routinely and probably depends where you are.

mumsuz Thu 06-Mar-14 12:09:05

Hi there. Is he having the ADOS assessment? I dont think they would do any genetics testing at that point. We got a separate referral to a geneticist who then did the testing for both Fragile X and Angleman syndrome.

Thankgoodnessforcheerios Thu 06-Mar-14 12:28:42

Hi I don't know what assessment he is having to be honest, all I know is that it is an assessment for autism with the community paediatrics outpatient department. The appointment letter only states the time and where, no other information. Shame they don't send out a leaflet with what to expect, how long you may be there, what to bring etc. I'm glad he is too young to need to have the appointment explained to him as I wouldn't do a very good job!

mumsuz Thu 06-Mar-14 12:58:28

Is there a number or person you could call to ask those questions - which arent in the least silly!

2boysnamedR Thu 06-Mar-14 13:05:17

Is it your first pead appointment?

Thankgoodnessforcheerios Thu 06-Mar-14 13:20:18

I have given up trying to call, the lady who deals with the appointments is never at her desk and I can't leave a message mumsuz

I have spoken to my health visitor who has advised me to bring his red book, I don't know what good that will do thoughconfused however I have his baby book which I have filled in in quite detail and I also did the M CHAT form online and printed if off.

And yes are first pead appointment 2boysnamedR

mumsuz Thu 06-Mar-14 13:41:45

Sounds like it is likely to be a more general discussion. And good that you have a detailed baby book with description/examples.

I hope it goes ok. There will always be people here to talk things through with afterwards.

chocgalore Thu 06-Mar-14 13:54:08

yes, if it is the first paed appointment I would think too that it is only a general discussion and then some of the usual "wait and see".

good idea to take the red book with you esp as you have filled it in in detail. I would also make a list with all the concerns you have about your DS. it is so easy to forget to mention things during these appointments.

Thankgoodnessforcheerios Thu 06-Mar-14 14:12:01

Oh dear, I do hope it is more than a general discussion, we have waited long enough, I need to know.

Sorry he did have a neuro assessment in January which I have just realised is under community paediatrics, however it was a different Borough, this appointment coming up is his first appointment in our new Borough.

Thankgoodnessforcheerios Thu 06-Mar-14 14:13:25

The outcome of that neuro asessment was that he more than likely somewhere on the spectrum hence the referral for the autism assessment. He is 28 months.

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