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Genetic testing

DANIEL HAD THE X TEST ALSO IT ALL GAVE BACK NEGATIVE. We're all signed up for the medical genetics clinic at Children's for mid January.  M was tested for Fragile X earlier this year but that came out negative.  The intake coordinator told me the doctor(s) will give M a physical examination, then likely a blood test.  I don't want to create controversy or anything, but I have to tell you that our motives are twofold: one to better understand M, but secondarily for a possibly future pregnancy.  Due to our second reason, our genetic counselor suggested that if something does come up on M's results, the entire family, or at the very least M's younger sibling get tested as well.They recommended I get tested for a few things, but I never did.  They also were evaluating me for something that didn't have a test at the time, but has at least a partial test (accurate about half the time) now, and I've never been tested for that either. We just got our son's test results back, and everything came out negative.  

Like andrewsmommy, I had amnio while pregnant (actually with all 4 of my kids) and they all came back "normal".  Tony was tested for fragile x as well; also normal.

We have a friend (Tony's classmate) who has Kleinfelter's and was dx with aspergers only 2-1/2 years ago.  Initially, doctors said his "differences" were due to the Kleinfelters.  I'd never heard of it before.

Mary

My doctor recommended it for Austin(was 4 at the time in April 2006)and of course everything came out to be fine and they couldnt find nothing...Honestly,before Austin had it done someone mention it was a waste of my time(but I being new ignore it)and sure enough it was...It just put Austin through alot of poking and I got stuck with a $1010.00 lab bill that the insurance had already paid $589 and 1010 is the remaining balance...so make sure you have Katie Beckett BEFORE you get the lab done cuz the lab wont take the Katie Beckette after the lab work....The lab people will tell you they will take the Katie Beckett if u have applied for it cuz I told them I was waiting for my card...thats a crock in Ga area...LOL.

 Good luck in your area....

Erica,Georgia....Austin(5)

I was .... came back normal. The geneticist my son saw did say he should have a genetic blood draw and a brain scan done just as precaution.  He did state that he didn't think it would find anything.  We will have it done just the same.  What is Katie Beckett??

Katie Beckett is a way to get Medicaid  for families whose incomes are too high but whose child has a severe medical disability.  Depending on the state, it can be very difficult to get. In NY it is.  I know some people who've gotten it for kids with autism, though. It pays for things medical insurance doesn't.  I've been told that if a child has been hospitalized for 30 days in a row at ANY time in his life, he can qualify (this is true for many preemies).  I am not certain that is the only way to qualify, though.

I was just curious...when your children were seen for developmental delays, did the doctor also recommend genetic testing?  If so, did you have it do?  And did any significant findings come from it?

Our dev ped strongly recommended it.  We had ds seen and test on 11/15 and are now awaiting the bood results.  Nothing alarming found upn physical examination.

Thanks in advance for reading my post.
Ds1 was tested for fragile x.Our ped ordered lotss of tests for genetic stuff, including fragile X. They took a few vials of blood. Results took about 4 weeks. Everything came back normal. He said this is standard procedure when a diagnosis of autism or other neuroloical affliction is made. 2nd round mom39061.5789699074We had it done for Adam, it all came back Negative, meaning that they cannot trace his Autism to genetics. The Doc told us that he didn't know how Adam got it because all of his tests were normal and there were no defects in his genes. It didn't surprise us because we had strongly suspected that his condition was caused by the DTAP AND FLU shots. Reason why is that after his first DTAP his head size increased and we had to take him for an ultrasound to r/o hydracephlus(which was not found, another answer of "I don't know why his head size increased" was given to us) and after the first 2 flu shots his personaility was horrible and he was jacked up for weeks. We refused all other flu and DTAP after that. Since the diagnosis when he turned 2, we have refused ALL SHOTS. His pediatrician also agrees with us(surprise, how many Doc's do you know do this). juls35inva39061.5897337963Thanks so much.  With my son, the dev ped and the genetic doc found epicanthal fold by his eyes (I think these folds are really prominent in Downs) and 2 patches of unpigmented hair on the back of my son's head.  We suspect the blood results will come back normal. Hopefully, with new research money, someone will find a cause and a way to prevent ASD.

It has been suggested but we have not done it.

There are tons of rare genetic disorders that don't even have a name, sometimes. Doctors who are familiar with developmental issues LOOK for facial features that might be considered unusal.  That could be a red flag for a genetic disorder. Fragile X is implicated in autism.  That is, if a child has Fragile X Syndrome, he's likely to have autism.  However, only a tiny percentage of kids on the autism spectrum have Fragile X.  Other genetic disorders can also be found, either as a cause of autism or as something co-morbid (as in Down Syndrome existing as well as autism).  It is best to eliminate the possibility that the symptoms might be caused by a genetic disorder.  For two reasons.  1, so that no one will question the autism dx if something like Fragile X is found and 2 so that the decision to have more children yourselves or advise your children about having children can be a fully informed one. Also, if a child has certain genetic syndromes, it's possible to get a more accurate prognosis.  At least then you won't spend decades wondering about the end of the story -- the genetics will tell the tale.  That's all I can think of as reasons that knowing about a particular genetic issue might be helpful.  Please let us know how it goes.

Kyle was initially tested for Fragile x.  They also did chromosome mapping at the same time.

Normal for fragile x.  But, they did discover xyy syndrome.  They're learning that xyy syndrome is the most common genetic disorder with autism.  Meaning, a small percentage of kids with autism have xyy, but boys that have xyy (with problems) have autism. 

We're going to the Mind Institute in Feb and they are conducting more genetic tests on him.  I was told by Dr. Tartaglia there that just because his other tests came back normal, doesn't mean there isn't something else there.  She said when these tests are done, they're looking for the KNOWN disorder/defects in the genes.

Michelle

I am considering having some genetic tests done. I would like Lachlan to have a sibling closer to his age than my older two children but I have very serious concerns about falling pregnant without at least looking into it.

I believe I have a problem with 1st pregnancies (both my boys have different fathers) and carrying boys. With the issue ofthe 1st pregnancy being out of the way, I would like to see a better indication of the odds.

Lachlan was also born at 29 week, so the issue of prematurity is a big one for me also.

I'd be interested in hearing how others go with this.

Mysh

 

My doctor said she didn't feel any bloodwork was necessary at this time - but while reading these responses - all of a sudden it DID occur to me that we had Three pregnancy losses before having our two successful pregnancies...

I wonder if there is a correlation? (Meaning, I wonder if my and my husband's genetics are not so hot)...

I always thought it had something to do with why we had twins (that I have eggs that tend to split) - I know our middle m/c was related to a chromosomal/twinning "accident" (a rare type of m/c where the egg allows two sperm to fertilize, then doesn't split - so there are too many chromosomes).


It was never suggested, but I requested it later on. The GI track dr suggested it, but haven't gone yet. Its on my to do list as other things are. They only tested for fragile X which was negative.Sharlet has been geneticly tested recently, we get the results on 17th Jan.

I had amniocentesis while pregnant -- Normal.

Andrew was tested for fragile X and other genetic disorders @ age 20 months -- Also Normal.

 

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