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#1 of 4 Old 09-24-2013, 06:55 AM - Thread Starter
 
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How do you decide if genetic testing is necessary?

 

My mama instinct says that we should have some testing done. When I talk to my pediatrician about it, she isn't opposed to it but she also doesn't know what to write on the referral to the geneticist. I don't have a lot of confidence in our pediatrician at this point because she dismissed all my concerns about DS but did agree to give me the referrals I requested for OT, PT, and speech. We didn't need a referral for the neuropsych. As it turns out my concerns were very valid, just in speech DS is a little over three years behind typical kids his age and he has a severe articulation disorder that is in part due to childhood apraxia of speech and an auditory processing disorder. DS is number 4 of my 5 kids. He is very thin (37lbs at age 6yrs, 8months), doesn't eat well (sensory issues, deviated swallow, SLP wants us to go to the gastro doc and check on yeast), dyspraxic throughout his body, has low tone, ASD, SPD, LD (this is his primary eligibility for his IEP). I am looking for a new pediatrician but what can I say to our current pediatrician in the meantime. I just feel like something is 'off' that may turn up on a genetic test. I'm sure she would write whatever I wanted on the referral I just have no idea what to ask for. Please help!


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#2 of 4 Old 09-24-2013, 07:44 AM
 
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I think I am just going to follow you around on here Patti. :wink We did genetic testing with DS1, that is a whole other saga in our journey. The referral to the geneticist for for "unknown developmental delays" I believe. It doesn't have to be an elaborate reason why. 

 

I started to reply about PT on the other thread, haven't finished it yet. DS1 does better in water then in land so we've just run with that. His mobility on land is increasingly getting worse but in the water, I feel like his body is "free". He started off not even able to put his face in the water, but very randomly, our swim instructor was a SLP who stopped practicing after 20 years, was obviously used to SN kiddos, and LOVED DS1 so I credit all of his success in water to her. As far as bike riding goes. His PT tells me that it should not be physically possible for him to ride his bike. His balance is so poor, he has significant left sided weakness, on and on. But he does. And all over the place. Again this is a kid who will get off his bike and then promptly fall down for no real reason. The only thing I can think of is that one of his ASD obsessions is bikes. He used to push bikes around our house for hours, falling repeatedly, and dragging his leg, refusing to speak, eventually he started using a balance bike, and it slowly progressed. I felt like it was an effort that took countless hundreds of hours to accomplish but that is the beauty of those ASD obsessions, they just don't give up. 


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#3 of 4 Old 09-24-2013, 07:50 AM
 
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And to answer the other part of your questions. We did genetic testing in our search for "why". Why is DS1 this way? What am I missing? What else can I be doing to help him? For us, genetic testing only created more questions then answers because it did come back with things, but not the answer, just more issues. I don't regret it. We are still searching for why but I think we are very close to getting a real answer. After genetic testing, we circled back around to mild CP and ASD. ASD is confirmed but we are still making our way through the CP pathway diagnosis. And now we monitor genetics for the other issues.  


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#4 of 4 Old 09-24-2013, 09:25 AM - Thread Starter
 
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Hey Peony! We do have a lot in common :twothumbs

 

"Why is DS this way", is exactly what I am looking for! I think that because I am in the sciences it makes it feel even more compelling to search for the answer to 'why' through laboratory tests. I keep feeling like we are missing part of the answer. So I will tell the pediatrician "unknown developmental delays". I realized that it may just open the door to more questions and might not ultimately change anything we do in therapy but it feels important. I actually had prenatal genetic testing done on myself to see if I was a carrier of anything identifiable and I wasn't. Thanks!

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~Patti~ rainbow1284.gifMomma to three girls and three boys chicken3.gif, First mother to one girl triadadopt.jpg

Certified, card carrying member of the IEP Binder Clubkid.gif  

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