diagnosis of A.S.D confirmed..need so advice if possible

[cait]

my 4 year old son had ASD confirmed today,but i was wondering the cdc have left me stunned..there is a history of austism and asd in my family and they want to test my son for fragile x syndrome...this is new to me and im feeling very confused i know he might not have it but they want to test to be sure he is showing a lot of the charactristics of fragile x.....has this happened to anyone else...it would be great to speak to someone who has been down this path...thanking you in advance...cait

[Lynden]

Hi Cait

 

It's quite normal, when going through the ASD diagnosis to be tested for Fragile X. Fragile X shares a lot of characteristics with ASD but is genetic so can be tested for. It's normal to rule it, and various other things, out first before giving an ASD diagnosis.

 

I know my son was certainly tested for FX, amongst other things and many friends who have ASD children were tested also. His 'best friend' at school has Fragile X and he and L are very similar in their behaviours.

 

Take care

Lynne

[cait]

thank you for taking time to answer my question....my eldest a girl has a dx of AS ADD and asscociated mood disorder her yonger sister ADHD my eldest son has no dx confirmed but school believe he has ADD and possible dyslexia....i was just concerned because it had never been mentioned with my daughter thanks again for answering my question...cait.

[Kathryn]

Hi Cait,

 

I don't know much about it myself - I've added a bit to your topic title in case there are others who have experience of this.

 

How do you feel after the diagnosis? It can be a time of conflicting feelings for many people.

 

K x

[sesley]

Would you enlighten me on what fragile X is.

[RainbowsButterflies]

I don't know much about it, but there is some informations here http://en.wikipedia.org/wiki/Fragile_X_syndrome

[LisaKaz75]

From what I know its tested via a blood test and its to do with a missing/ incomplete gene

 

My 3 year old was tested for it when we were going through diagnosis and was clear

 

It kind of helps rule out a medical reason for some of the traits that can be associated with autism

 

LisaKaz

[cait]

Hi Cait,

 

I don't know much about it myself - I've added a bit to your topic title in case there are others who have experience of this.

 

How do you feel after the diagnosis? It can be a time of conflicting feelings for many people.

 

K x

[cait]

thank you yes that was a good idea about adding it to my topic title....doc says it is a rare genetic disorder..but some doctors believe every child with autism should be tested for the fragile x gene because they believe it is the main gene which causes autism....my only knowledge of the condition is what ive read on wikpedia......they want to test for it,due to my family history..and all my children seem to be affected by some degree with some form of neurological disorder.....to be honest im a mixed bag of emotions at the moment..relieved to an extent because finally someone is listening to me about my little boys needs...sad and emotional, because i worry for him he is really struggling at school and has a lot of sensory issues..trying to get things straight in my own head to be trueful wanting to start fighting his corner getting him the support he needs....and yes a little apprehensive about the future and if confirmed what will having fragile x mean for him and worried incase they will need to test my other children if its confirmed....and then i will probebly go through a period of self blame because it is i whom has given them the fragile x gene..so i am kind of a mixed bag of emotions at the moment.

[JsMum]

Hi cait

 

welcome, My son was suspected Fragile X too as he has a lot of similarities to Fragile X.

 

For a child to have fragile X the parents have to be a carrier of the Fragile X, when it came to take Js Bloods he siad no, no, so the Doctor turned to me and said its OK J, because we can test your mum instead, so I had my blood taken to see if I was a carrier, It was a reliefe when My bloods came back normal and I wasnt a carrier of Fragile X, therefore J couldnt have Fragile X either, so he didnt need testing, if your son is likely to struggle with the actual bloods been taken I would request you be tested for a carrier, I have read that the Mother has to be a carrier for a child to have Fragile x.

 

There is a lot of information on the internet on Fragile X and actual websites so do look at them too.

 

Here is a link to some of the websites.

 

http://fragilex.org.uk/

 

It is very similair to Autism so they test Children to cancel out Fragile x.

 

Even if a child has Fragile X, with early diagnosis and confirmation there is more chance of early interventions and special needs provision delivered to prevent damage that could of been coursed if not identified earlier.

 

I worried a lot when I was waiting for the test, it is normal to be anxious of tests and waiting for the results, there are children with fragile x who lead very happy lives and have the support they need so if it does turn out that your son has Fragile x there will be support available.

 

I wish you the very best with the process of finding out either way.

 

JsMumx

Edited March 17, 2011 by JsMum

[coolblue]

Hi Cait

 

A diagnosis of an ASD is an *exclusion* diagnosis. That means it's a label applied to the child's symptoms after conditions known to cause autistic characteristics have been ruled out. It isn't a diagnosis in the same way that, say Down syndrome or Fragile X is a diagnosis, it's a label that says 'this child has these kind of symptoms but we don't know what causes them'.

 

Before my son was diagnosed with ASD his paediatrician gave him a battery of blood tests to rule out other conditions - which is what should happen, because there are at least 60 known conditions associated with ASD-type symptoms. It's important to rule these out, because if a child has a known genetic or metabolic disorder, then doctors will be aware of other health issues associated with them, and will be able to offer appropriate advice, support and treatment.

 

cb