Genetics testing

[Amanda32]

Does anybody know much about Genetics testing?

Obviously my son will have some blood test done, but what happens next etc? Do they do further testing on the family as he has already had the chromosome test done and was normal.

Any experience please let me know

Sorry if i have already put this information down before...Apologies

Many thanks

Amanda <'>

Edited January 6, 2005 by Amanda32

[AmyNelson]

Do you mean that as part of a diagnostic process that they will do genetic testing?

I think they do chromosome testing to look for fragile x, but I wouldnt imagine that they do any more genetic testing than that as part of diagnosing autism or asperger's. Genetic studies are carried out as part of research into causes and treatment for autism.

People would volunteer for these and it would be explained to them what they were participating in.

[Amanda32]

Hi Amy

What I mean is before my son was diagnosed he had a blood test done (chromosome) but came back normal. Then they mentioned about us seeing someone from genetics but did not follow it up. When we had an appointment the other day they said about it then, as i told them nothing as been done since. They are now going to sort that out but not sure excactly what it involves altogether..... as i'm not very good with taking much information in.

Take care

Amanda

[Amanda32]

Hi just an update on this discussion, I received a letter this morning about a genetics councellor coming to see us in a few weeks time. She wanted to see me and my husband but I had to cancel for another time as my son as something going on in his school, never miss any. So wait until 4th April, she is visiting for about an hr to ask questions about family history such as any problems relating to my son etc. Then when she as discussed family tree we have to wait for an appointment to see a clinical geneticist at the hospital if need further testing. As anyone been through this at all as just wanted to know.

Many thanks

Amanda

[Amanda32]

Hi everyone

Just had a Genetics councellor here just now, was a mix up there side with appointments i think. I had to go through all the family tree and so did my hubby but could only give them some information because we all never see all our families anyway. She said just have to wait for an appointment within the next 3/4mths to see the geneticist. She was telling me that it may be that he had autism when he was conceived if you know what i mean and that was born with it. See how things go might not get any answers but let them carry on as might not get the help again.

Take care all

Amanda

[Amanda32]

Hi everyone

Having a bad day..... We got to see the Clinical Geneticist earlier for 1 hr 30mins. My son really played up got really bored by the looks of things. It really felt like they was observing me not just my son looking at me but it mad e me umcomfortable a little. He wasn't in there for more than 10mins and started to wander off.. Pulling funny faces, saying fluff, poo, just plain silly but you could see that the 2 women that were trying not to laugh themselves to be honest. They talked about my problems and everyone elses etc, then asked to examine him. She measured his head, his birthmark, looked at his hands, feet mouth. then asked me if she could take photos of him and his hands, feet etc but had to sign to consent to this. She said nothing may come out of it but she's going to try see what she can find out. He really kept poking his tongue out and running off when he should of been examined and it made me feel like I was useless in not controlling him... To be honest I think she said he may of had problems before he was even born with his bowels so just wait and see what she comes up with. As anybody else been through this process at all in the past? Like to know what anyone else as gone through if they have been through the same thing.

Take care

Amanda

[hopeful]

I detest geneticists and all they stand for. They are intent on creating a master race in which I will have no place. They are the Nazis - The Next Generation.

[call me jaded]

I really like our geneticist. My son climbed into a cupboard rather than be examined and she very calmly took the photos of him whilst he was in there and then sent me one. He represents an Enigma to them, with his slightly dismorphic (odd-looking!) features and knobbly hands and feet. The last time we saw her she brought a couple of colleagues and said here's the little boy I've been telling you about and other comments she made during the examination made me think she was completely intrigued by us. They've done some very expensive testing on him looking at the telenores (if that's how you spell it) and so far he is Normal. Which encourages me to look at things outside of the genetics.

[hopeful]

Please delete.

Edited August 6, 2005 by hopeful

[Canopus]

The geneticists have no plan to ever create a master race as that would defeat the point of their strategy. It is insurance companies that are driving much of the research into genetics so they can charge higher premiums to customers with "bad" genes for things such as heart conditions or even AS for that matter.

[hopeful]

Nazi geneticists are pursuing their objective of a master race, initially by gentle seeming steps that fool naiive people, just like their idol Adolf Hitler did. Whatever the cause, genetic or otherwise, of somebody's Aspergers or Autism or many's another characteristic, it is inherent to the way they are. Autism/Aspergers could not be 'cured' without destroying - murdering - the people with that characteristic. The problem lies alone with those who cannot cope with diversity.

Edited August 6, 2005 by hopeful

[lsw146]

Hi my daughter had a chromosome test for Turners syndrome and when we got the letter back it said that all of here genes were normal. It may have been that the chromosome check that was doen was only looking for one specific problem with the genes "called genetic markers". The geneticist may have been brought in to look at all aspects of development so that they can know ahere else to look in the chromosomes. All chromsome contained hundreds of genes and this why research of them is such a vast, complicated and well debated subject.

 

geneticists may be looking for the gene marker that controls cancer or mutliple sclerosis and on the way find one that chooses hair length or skin colour or something with an even bigger impact on humanity such as sex choice. It is how the information is used that is critical!

 

How would it have been if those now diagnosed with Aspergers were still being diagnosed with mental health problems and hospitalised because no one would take a chance and move the research boundaries forward. In most cases research into Aspergers has moved things on positively but as with everything there are still those out there who think the ideal would be a cure! AND that is a whole other debate.

[Lucas]

I haven't actually noticed the number of those with either Kanner of Asperger diagnosis(or undiagnosed Autism) being commited because of misdiagnosis or actual mental health problems(which service providers ignore until it becomes a problem), so I am not going to pretend research has been a good thing up to now. It has all been based on value-led presumptions.

 

It's only in recent years when Autistics actually got involved in Autism research that things have slowly turned round, and only in some areas and among too few people. It is still assumed that Autism causes aggression, based on no imperial evidence whatsoever, but no one has bothered with a study to prove conclusively once and for all because too many people find it useful that Autistics are characterised as aggressive. The president of Autism Society Canada is on the record as saying that the parent-led groups didn't recieve any money until one Autistic boy was murdered by his mother(she was let free and given a job at ASC I heard), you get the impression that he means this is a good thing as nothing else in the sentence and surrounding statements made it clear that it was bad.

 

I have never seen or read an actually study concluding anything good about Autistic people that wasn't including Autistics as researchers. Only token articles written by Tony Attwood, Carol Gray and Simon Baron-Cohen(who made absolutely sure to exclude 'low-functioners' without defining what one was).

[hopeful]

Every time geneticists discover something 'important', homo sapiens is brought another step towards its increasingly imminent extinction.

[lsw146]

It is still assumed that Autism causes aggression, based on no imperial evidence whatsoever, but no one has bothered with a study to prove conclusively once and for all because too many people find it useful that Autistics are characterised as aggressive

 

I am sure you are right to say that people with Autism are their own biggest advocates but surely misrepresentations such as the above mean that research should be pushed forward.

 

as for my mental health comment I have read too many stories about misdiagnosis use of innappropriate drugs, hospitalisation, prison etc. I haven't seen figures but I know the problem existed and unfortunately still exists. doesn't more research mean more awareness?

[Canopus]

At least the condition is now recognised. It certainly wasn't back in 1988 and no psychology textbooks described anything that came close to AS. The simple existance of the knowledge of AS effectively thwarts any attempt to classify someone with AS as a madman, nutter, retard, schizophrenic, mentally unstable or whatever.

[Malika]

Hi

I am now waiting an apointment in hospital for my son for a second opinion and medical investigation I think that he may have fragile X because of his form of autism (he is very friendly) and some feature like flat feet hand grasp and rather big head, I have read recently that some chromosome testing are not accurate enough and there are another test which can be done for fragile X but it is more complexe an expensive could it be that your hospital may think that they should do a more accurate test ??? Could you ask to them why they want you to have an apointment with a geneticist may be they are just searching about autism to try to isolate a responsible gene. I have read as well that more doctor advocate fragile X testing for autistic children because of the implication in the family.

Hope you will be able to understand what is going on.

 

Malika.

[Amanda32]

Evening all. <'> <'>

 

Sorry not been on alot and giving any advice, dont think I would be any good to any of you lately I feel like everything is getting on top of me. As you know we are waiting to see what the consultant says about the manometry test that was done to see where we go from here about the ACE procedure. Well not had any reply about all the chromosome genetics testing done since last year until today...... Thought they had forgotten, to be honest I did anyway as us parents got too much to think about with our kids. They were unable to reach an underlying explanation for my sons problems. However they feel that further genetic testing may be helpful. Its saying its possible to look at the ends of the chromosomes in more detail. He had his done under a microscope and it was normal. Sometimes a small part of the end of the chromosome may be missing, which is not possible to see under a microscope. New techniques can enable them to look for additional chromosome material at the end. If some of the chromosome material from the ends as been gained or lost then it might indicate certain genes are not present in the right amount, this could lead to an explaination for my son's difficulties.

 

This test is done on a blood sample and takes several months. then when I get the results she would see me again to discuss the result and any implications for him and the family.

 

They enclosed a blood request form with it that needs to get signed but there are words on there that I do not understand.

Investigation required.........FISH

Details of test.......Telomeres

Provisional diagnoses.......Subteloneic rearrangovent (wrong spelling it's the hand writing)

The appointment I have is just before xmas to have his blood taken ( he will be fine he was very interested in what they were doing last time so no worries there)

 

Can anyone tell me if they ever heard of any of this?????

I can ring to find out but be helpful if you guys can as it would be appreciated.

 

It's saying something on the net about Telomeres is shorter life... All these words do my head in wish they left it off there as it's got me worried now.

Thanks again

 

Amanda to you all sorry again for not giving any advice recently.