Genetic Testing/Autism

Letitia - posted on 05/22/2010 ( 12 moms have responded )

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My son is 6 yrs old. He has speech/developmental delays. He has been in school since he was three, has an IEP. He goes to speech/OT in and outside of school. He has recently started getting these wierd phobias of not wanting to go to bathroom, if they are noisy, things like that. I filled out the paper work to get him in with a new developmental pediatrcian. Do you think I should get him seen with a genetics, have some tests done What's the value to this? What is your experience with this?

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Sheila - posted on 05/22/2010

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Hi Letitia,

During the diagnostic process, my son went through a variety of tests...genetic test being one (looking for Fragile X). If your developmental ped thinks it to be of value, then do it. If you want it done, for peace of mind at the very least, then ask for it. There are some disorders that present similar to ASD but have their roots in something other than ASD (so, although most of the behaviour issues are treated the same, you might find out that your child will need a medical regiment to follow)

The phobias might have their root in specific circumstances. For example, one time I took my daughter to the public washroom at the library. She was around 5. Flushed the toilet, and if the darn thing didn't act like it was a gusher! A huge gusher of water, straight up from the toilet bowl, and it kept going! Daughter went into a panic, and now at 8.5 she is still very scared to flush the toilet...and I do mean very scared!

Is he diagnosed with ASD? There is also a blood test for ??? I honestly forget the name. It is a very rare physiological condition. Our pediatrician tested for it because she said even though the odds were very much against my son having ??? (a condition that mimics autism) it is 100% treatable so she always tested her patients in the extremely rare chance that it was present. She was very clear...do not get your hopes up, I have never had a child test positive but I would be remiss in my duty to my patients if I did not test. Needless to say, our son did not test positive.

The more you know about your child's physical health, the better informed you are in making decisions.

Good luck,

Sheila

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Jill - posted on 05/27/2010

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You do not have to see a special genetic Dr. to get test. Your regular Dr. can do this and send it to a gene Dr. All they are going to be able to tell you is if it is Fragile x. and you will have a nice set of pics of your sons gene make up. Did nothing for us.
As for the phobias he sounds a lot like my son. My son has sensory issues with hearing. We call it Superman hearing. If it is to loud we have to have earplugs to mute the noise down or head phones.

Summer - posted on 05/26/2010

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Lydia,
I'm sorry if I offended you. I have no clue what you have been through. We are all in the same boat. I just read your post and you had said whats the point, and its no use. I just thought that it sounded like you hadnt even done anything. It was my mistake. It was also when you said that the lab test would be hurtful to your child...my son has had blood and lab work and I would never do anything to hurt my child. What I simple saying was what I would do and what I will do...No way was it directed at you or anyone else. Sorry again, if you felt offended.

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Summer Parker,
I did not just sit back and did nothing for my child. I did a lot for my son. He occupied my time the minute we knew that something is wrong. We've gone through a lot of tests to the point that we both traumatized. I did a lot of research about his case and that time they still not recognize here. People here are ignorant about autism. Good thing there is internet to search. But those tests did not change his condition. I just have to believe that God gave him to me for His own reason. I just have to accept it. And I accepted it. He will not grow normal like other kids but I will try my very best to make him happy for the rest of his life. I am giving my best to teach him to live independently. And I'm hiring a good speech therapist and good occupational therapist. It hurt my feelings that as if you are telling me that I did nothing for my son. You just don't know what I've gone though.

Angelique - posted on 05/25/2010

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thats a great idea!!! the mp3 works so well for me when i have to take my son for check ups or when he has to give blood...he loves his music and its a good way to distract him while the doc does what he needs to do

Erin - posted on 05/25/2010

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Letitia,

Hi, has he actually had a hearing test done? I work in a specialized school for children with Autism, and one of my students actually has a sensitivity to certain frequencies of sound. Also have you tried either bringing a cd player/ mp3 player with some of his favorite songs on it into the bathroom? Have it available to him only when he is in the bathroom and no other time which will make going to the bathroom in public a fun activity instead of a negative one!

Ivy Scott - posted on 05/25/2010

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I don't know if this is helpful but I have a 4 year old that did the same thing. He would not go to the public bathrooms when he has been going for almost 6 months. We found out that it was because of my husband's deployment. Has anything changed in his routine? My son will go to public bathrooms now but he still gets scared with the noises.

Angelique - posted on 05/24/2010

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i have a 12 yr old who was diagnosed with pdd,adhd,autism ..we got that diagnosis when he was around 2 almost 3.when he was about 6 i got pregnant with my daughter and since my son was like that the doc suggested i have some testing done...in that test i found out the true condition my son has and also that it was a genetic disease that almost every woman in my family was a carrier of.what my son had was the mutation of the genetic disorder that affects boys more than girls..its called fragile x syndrom..and that is what caused his autusim ect...once we knew the proper diagnosis we were abel to get him proper meds,school,services,and were abel to read and learn about how to help him better..though we still have a verrry hard time ahead ..im glad i know exactly whats goinng on in my baby.

Pamela - posted on 05/23/2010

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our naturopath is going to send off to the Genova Diagnostic to help find out whats going on. my son is 28 Months and will be getting assessed on the 14 and 15th of June, but I also want our naturopath to look at him turns out he specializes in Autism. And said he can help once we get the results by getting a diet and supplements going .. I don't think it will do any harm and any way I can help him I will try.

Summer - posted on 05/23/2010

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Lydia,
How can you say its a waste of time and money. Isn't finding out what your child has in order to help them important. Its a simple blood test. The same kind of blood test you have to have done for physicals and check ups. When it comes to my child, I want to know. It could be serious or metabolic. These blood test can tell you a lot and help out with education and knowing exactly how to help your child. I cant jsut sit by and know that I am not doin everything in my power to help my child. I would live in a cardboard box and work 2 jobs if that meant gettting my kid medical attention and the therapys to help. MRI, CT scans, Blood work and doctor appointment dont hurt your child...sitting back and throwing in the towel does.

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For me, its no used. What for? It will not help my child's development. It will just hurt my son in all those laboratory procedures, waste of time and money. I will just work on what really my son need to have continuous development. I will just focus on getting a right program for his speech and occupational therapy.

Summer - posted on 05/23/2010

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Hi Letitia,

My son is almost 3 and we are being seen by genetics. He has symptoms of autism. We have been dealing with all the different neurologists, developmental peds, MRI and blood test. If you questions, what does it hurt. Its a simple blood test and hopefully it will open any closed door questions you may have. We also found having aMRI helpful. Sometimes they can tell alot but the brain and if there is any disorders. Our sons MRI showed minor signs of CP. We would have known that unless he had the MRI. We have been through everything and every emotion when it comes to our son and getting a name for whatever he may have. I understand your feelings, we need a name for whatever this is so we can get him help.
Good Luck

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